Publications from OUS - Department of Clinical Neurosciences for Children

609 publications found

Publications 2024

1. Bieleninik L, Kvestad I, Gold C, Stordal AS, Assmus J, Arnon S, Elefant C, Ettenberger M, Gaden TS, Haar-Shamir D, Håvardstun T, Lichtensztejn M, Mangersnes J, Wiborg AN, Vederhus BJ, Ghetti CM (2024)
   Music Therapy in Infancy and Neurodevelopmental Outcomes in Preterm Children: A Secondary Analysis of the LongSTEP Randomized Clinical Trial
   JAMA Netw Open, 7 (5), e2410721
   DOI 10.1001/jamanetworkopen.2024.10721, PubMed 38753331
2. Brandt AE, Rø TB, Finnanger TG, Hypher RE, Lien E, Lund B, Catroppa C, Andersson S, Risnes K, Stubberud J (2024)
   Intelligence and executive function are associated with age at insult, time post-insult, and disability following chronic pediatric acquired brain injury
   Front Neurol, 14, 1192623
   DOI 10.3389/fneur.2023.1192623, PubMed 38249741
3. Brændvik SM, Ross Raftemo AE, Roeleveld K, Andersen GL, Ramstad K, Follestad T, Aarli Å, Bonikowski M, Vik T, Walking Easier (2024)
   Does botulinum neurotoxin A make walking easier in children with cerebral palsy? A randomized clinical trial
   Dev Med Child Neurol (in press)
   DOI 10.1111/dmcn.16038, PubMed 39058740
4. Dahl HM, Holthe IL, Andelic N, Løvstad M, Myhre MC (2024)
   Unmet health care needs over the first 2 years after pediatric traumatic brain injury
   Eur J Paediatr Neurol, 49, 73-81
   DOI 10.1016/j.ejpn.2024.01.002, PubMed 38430714
5. Drzymała-Czyż S, Walkowiak J, Colombo C, Alicandro G, Storrösten OT, Kolsgaard M, Bakkeheim E, Strandvik B (2024)
   Fatty acid abnormalities in cystic fibrosis-the missing link for a cure?
   iScience, 27 (11), 111153
   DOI 10.1016/j.isci.2024.111153, PubMed 39620135
6. Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S (2024)
   Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
   Commun Biol, 7 (1), 831
   DOI 10.1038/s42003-024-06466-1, PubMed 38977784
7. Gombaut C, Bakovic M, Tran HV, Goldman J, Wallace S, Ranganath B (2024)
   Simultaneous Free Flap Breast Reconstruction Combined With Contralateral Mastopexy or Breast Reduction: A Propensity-Matched National Surgical Quality Improvement Program Study on Postoperative Outcomes
   Ann Plast Surg, 92 (4S Suppl 2), S234-S240
   DOI 10.1097/SAP.0000000000003816, PubMed 38556680
8. Gramegna A, Addy C, Allen L, Bakkeheim E, Brown C, Daniels T, Davies G, Davies JC, De Marie K, Downey D, Felton I, Hafkemeyer S, Hamouda S, Kendall V, Lindberg U, Macek M, Mayell S, Pearlsman O, Schechter MS, Salvatori L, Sands D, Schwarz C, Shteinberg M, Taylor J, Taylor-Cousar JL et al. (2024)
   Standards for the care of people with cystic fibrosis (CF); Planning for a longer life
   J Cyst Fibros, 23 (3), 375-387
   DOI 10.1016/j.jcf.2024.05.007, PubMed 38789317
9. Gulseth E, Urdal A, Andersen MH, Falk RS, Aksnes G, Emblem R, Diseth T, Wæhre A (2024)
   Mental health and health-related quality of life in adolescents surgically treated for hypospadias in childhood
   J Pediatr Urol (in press)
   DOI 10.1016/j.jpurol.2024.09.031, PubMed 39490269
10. Hameed RA, Hoel AT, Diseth TH, Bjørnland K, Gjone H (2024)
    Mental Health, Psychosocial Functioning, and Quality of Life in Adolescents With Hirschsprung Disease
    J Pediatr Surg, 59 (6), 1037-1043
    DOI 10.1016/j.jpedsurg.2024.01.024, PubMed 38369401
11. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Ortigoza-Escobar JD, Tangeraas T, Berland S, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Bindoff LA (2024)
    Status epilepticus in POLG disease: a large multinational study
    J Neurol, 271 (8), 5156-5164
    DOI 10.1007/s00415-024-12463-5, PubMed 38822839
12. Kirschner J, Bernert G, Butoianu N, De Waele L, Fattal-Valevski A, Haberlova J, Moreno T, Klein A, Kostera-Pruszczyk A, Mercuri E, Quijano-Roy S, Sejersen T, Tizzano EF, van der Pol WL, Wallace S, Zafeiriou D, Ziegler A, Muntoni F, Servais L (2024)
    2024 update: European consensus statement on gene therapy for spinal muscular atrophy
    Eur J Paediatr Neurol, 51, 73-78
    DOI 10.1016/j.ejpn.2024.06.001, PubMed 38878702
13. Kristensen E, Mathisen L, Berland S, Klingenberg C, Brodtkorb E, Rasmussen M, Tangeraas T, Bliksrud YT, Rahman S, Bindoff LA, Hikmat O (2024)
    Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
    Ann Clin Transl Neurol, 11 (7), 1819-1830
    DOI 10.1002/acn3.52088, PubMed 38845467
14. Misceo D, Strømme P, Bitarafan F, Chawla MS, Sheng Y, Bach de Courtade SM, Eide L, Frengen E (2024)
    Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
    Genes (Basel), 15 (4)
    DOI 10.3390/genes15040500, PubMed 38674434
15. Moksnes HØ, Andelic N, Schäfer C, Anke A, Soberg HL, Røe C, Howe EI, Forslund MV, Røise O, Dahl HM, Becker F, Løvstad M, Perrin PB, Lu J, Sveen U, Hellstrøm T, Rasmussen MS (2024)
    Unmet rehabilitation needs in the first 6 months post-injury in a trauma centre population with moderate-to-severe traumatic injuries
    J Rehabil Med, 56, jrm40078
    DOI 10.2340/jrm.v56.40078, PubMed 38803207
16. Myren S, Helgeland H (2024)
    [Not Available]
    Tidsskr Nor Laegeforen, 144 (11)
    DOI 10.4045/tidsskr.24.0321, PubMed 39319769
17. Nyquist CB, Torgersen L, David LW, Diseth TH, Gulbrandsen K, Waehre A (2024)
    Treatment trajectories among children and adolescents referred to the Norwegian National Center for Gender Incongruence
    Acta Paediatr (in press)
    DOI 10.1111/apa.17530, PubMed 39648282
18. Nyquist CB, Torgersen L, David LW, Diseth TH, Magnus P, Biele GPE, Waehre A (2024)
    Population-adjusted numbers, demographics and mental health among children and adolescents referred to the Norwegian National Center for Gender Incongruence over two decades
    Eur Child Adolesc Psychiatry (in press)
    DOI 10.1007/s00787-024-02508-5, PubMed 39008097
19. Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM et al. (2024)
    Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
    Mov Disord, 39 (9), 1624-1630
    DOI 10.1002/mds.29883, PubMed 38899514
20. Rasmussen MS, Andelic N, Selj JN, Danielsen VM, Løvstad M, Howe EI, Hellstrøm T, Soberg HL, Brunborg C, Aas E, Moksnes H, Sveen U, Gaarder C, Næss PA, Helseth E, Røise O, Aarhus M, Øra HP, Bjørneboe JA, Fure S, Røe C, Schäfer C, Perrin PB, Lu J, Elf M et al. (2024)
    Self-management support program delivered in the sub-acute phase after traumatic injury-study protocol for a pragmatic randomized controlled trial
    Trials, 25 (1), 639
    DOI 10.1186/s13063-024-08492-0, PubMed 39350137
21. Rinde ER, Anderzén-Carlsson A, Jahnsen RB, Andersen RD (2024)
    Children with Cerebral Palsy and Their Parents Have Different Experiences of Pain Management: A Qualitative Study
    Children (Basel), 11 (9)
    DOI 10.3390/children11091055, PubMed 39334588
22. Rohrer-Baumgartner N, Laberg Holthe I, Svendsen EJ, Dahl HM, Borgen IMH, Hauger SL, Thulesius MS, Wade SL, Røe C, Løvstad M (2024)
    Children and families with chronic pediatric acquired brain injury in need of rehabilitation: characteristics and main challenges in daily life
    Disabil Rehabil, 1-10 (in press)
    DOI 10.1080/09638288.2024.2376936, PubMed 39001694
23. Sargénius HL, Hypher RE, Finnanger TG, Brandt AE, Andersson S, Risnes K, Rø TB, Stubberud JE (2024)
    Goal management training for improving fatigue in children and adolescents with acquired brain injuries: A 2-year follow-up of a randomised controlled trial
    Neuropsychol Rehabil, 1-21 (in press)
    DOI 10.1080/09602011.2024.2353395, PubMed 38848501
24. Sargénius HL, Rø TB, Hypher RE, Brandt AE, Andersson S, Finnanger TG, Risnes K, Stubberud J (2024)
    Health-related quality of life in children and adolescents with paediatric acquired brain injury: Secondary data analysis from a randomised controlled trial
    Qual Life Res (in press)
    DOI 10.1007/s11136-024-03838-2, PubMed 39572461
25. Semenchuk J, Naito Y, Charman SC, Carr SB, Cheng SY, Marshall BC, Faro A, Elbert A, Gutierrez HH, Goss CH, Karadag B, Burgel PR, Colombo C, Salvatore M, Padoan R, Daneau G, Harutyunyan S, Kashirskaya N, Kirwan L, Middleton PG, Ruseckaite R, de Monestrol I, Naehrlich L, Mondejar-Lopez P, Jung A et al. (2024)
    Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study
    J Cyst Fibros, 23 (5), 815-822
    DOI 10.1016/j.jcf.2024.07.019, PubMed 39191560
26. Skjeldal OH, Posserud MB (2024)
    Autism or Sukhareva's syndrome?
    Tidsskr Nor Laegeforen, 144 (10)
    DOI 10.4045/tidsskr.24.0310, PubMed 39254010
27. Wik-Klokk M, Rasmussen M, Ørstavik K, Zetterberg H, Hagen M, Holtebekk ME, Ramm-Pettersen A, Wallace S (2024)
    Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up
    Eur J Paediatr Neurol, 53, 109-116
    DOI 10.1016/j.ejpn.2024.09.009, PubMed 39447351
28. Ørstavik K, Solbakken G, Rasmussen M, Sanaker PS, Fossmo HL, Bryne E, Knutsen-Øy T, Elgsås T, Heiberg A (2024)
    Myotonic dystrophy type 1 - a multiorgan disorder
    Tidsskr Nor Laegeforen, 144 (5)
    DOI 10.4045/tidsskr.23.0687, PubMed 38651711
29. Ørstavik K, Solbakken G, Rasmussen M, Sanaker PS, Fossmo HL, Bryne E, Knutsen-Øy T, Elgsås T, Heiberg A (2024)
    [Not Available]
    Tidsskr Nor Laegeforen, 144
    DOI 10.4045/tidsskr.24.0236, PubMed 38738573

Publications 2023

1. Aden P, Skarbø AB, Wallace S, Ørstavik K, Rasmussen M (2023)
   Cognitive function, behaviour and quality of life in children with myotonic dystrophy type 1 in South - Eastern Norway
   Eur J Paediatr Neurol, 45, 1-6
   DOI 10.1016/j.ejpn.2023.05.004, PubMed 37209486
2. Bakkeheim E (2023)
   The role of cerebral palsy registries in improving patient care and collaboration: A global perspective
   Dev Med Child Neurol, 66 (6), 688-689
   DOI 10.1111/dmcn.15814, PubMed 37986232
3. Bootsma JN, Stadskleiv K, Phoenix M, Geytenbeek JJM, Gorter JW, McCauley D, Fiske S, Campbell F, Crews N, Cunningham BJ (2023)
   Implementation of the C-BiLLT, an accessible instrument to assess language comprehension in children with limited motor and speech function: an international clinician survey
   Augment Altern Commun, 39 (3), 135-145
   DOI 10.1080/07434618.2023.2197060, PubMed 37310116
4. Dahl HM, Holthe IL, Løvstad M, Tverdal C, Andelic N, Myhre MC (2023)
   Almost half of children and adolescents had unmet need 6 months after their traumatic brain injury
   Acta Paediatr, 112 (5), 1019-1028
   DOI 10.1111/apa.16693, PubMed 36708075
5. David LW, Stenberg N, Diseth TH, Helverschou SB, Nyquist CB, Øien RA, Waehre A (2023)
   Autistic Characteristics in a Nationally Representative Clinical Sample of Adolescents Seeking Medical Gender-Affirming Treatment in Norway
   J Autism Dev Disord (in press)
   DOI 10.1007/s10803-023-06181-6, PubMed 38055182
6. Fjeldvang RT, Nordaas MG, von Tetzchner S, Stadskleiv K (2023)
   Measuring impact of augmentative and alternative communication interventions: adapting the family impact of assistive technology scale for augmentative and alternative communication (FIATS-AAC-No) for use in Norway
   Augment Altern Commun, 39 (3), 170-180
   DOI 10.1080/07434618.2023.2170276, PubMed 37539681
7. Fosdahl MA, Berg B, Risberg MA, Øiestad BE, Holm I (2023)
   Body Mass Index, Quality of Life and Activity Limitation Trajectories over 2 Years in Patients with Knee or Hip Osteoarthritis: A Dual Trajectory Approach Based on 4265 Patients Included in the AktivA Quality Register
   J Clin Med, 12 (22)
   DOI 10.3390/jcm12227094, PubMed 38002706
8. Friede P, Hollung SJ, Vik T, Andersen GL, Cameron DL, de Rodez SA, Haugen OH, Lundervold T, Nicholas J, Stadskleiv K (2023)
   Norwegian paediatric habilitation centres judge their own competence on cerebral visual impairment as limited
   Acta Paediatr, 112 (7), 1530-1536
   DOI 10.1111/apa.16778, PubMed 36997302
9. Ghetti CM, Gaden TS, Bieleninik L, Kvestad I, Assmus J, Stordal AS, Aristizabal Sanchez LF, Arnon S, Dulsrud J, Elefant C, Epstein S, Ettenberger M, Glosli H, Konieczna-Nowak L, Lichtensztejn M, Lindvall MW, Mangersnes J, Murcia Fernández LD, Røed CJ, Saá G, Van Roy B, Vederhus BJ, Gold C (2023)
   Effect of Music Therapy on Parent-Infant Bonding Among Infants Born Preterm: A Randomized Clinical Trial
   JAMA Netw Open, 6 (5), e2315750
   DOI 10.1001/jamanetworkopen.2023.15750, PubMed 37234006
10. Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N et al. (2023)
    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
    Mol Genet Metab, 139 (3), 107624
    DOI 10.1016/j.ymgme.2023.107624, PubMed 37348148
11. Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N et al. (2023)
    Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
    Mol Genet Metab, 139 (4), 107647
    DOI 10.1016/j.ymgme.2023.107647, PubMed 37453860
12. Karlsen RA, Hoel AT, Gjone H, Bjørnland K (2023)
    Nurses' Experiences With Anal Dilatations in Babies With Anorectal Malformations - A Focus Group Interview Study
    J Pediatr Surg, 58 (10), 1929-1934
    DOI 10.1016/j.jpedsurg.2023.04.021, PubMed 37246043
13. Kiss RS, Chicoine J, Khalil Y, Sladek R, Chen H, Pisaturo A, Martin C, Dale JD, Brudenell TA, Kamath A, Kyei-Boahen J, Hafiane A, Daliah G, Alecki C, Hopes TS, Heier M, Aligianis IA, Lebrun JJ, Aspden J, Paci E, Kerksiek A, Lütjohann D, Clayton P, Wills JC, von Kriegsheim A et al. (2023)
    Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis
    J Biol Chem, 299 (11), 105295
    DOI 10.1016/j.jbc.2023.105295, PubMed 37774976
14. Klevberg GL, Zucknick M, Jahnsen R, Eliasson AC (2023)
    Development of Hand Use with and Without Intensive Training Among Children with Unilateral Cerebral Palsy in Scandinavia
    Dev Neurorehabil, 26 (3), 163-171
    DOI 10.1080/17518423.2023.2193256, PubMed 36945898
15. Kozlowska K, Schollar-Root O, Savage B, Hawkes C, Chudleigh C, Raghunandan J, Scher S, Helgeland H (2023)
    Illness-Promoting Psychological Processes in Children and Adolescents with Functional Neurological Disorder
    Children (Basel), 10 (11)
    DOI 10.3390/children10111724, PubMed 38002815
16. Lillehaug HA, Klevberg GL, Stadskleiv K (2023)
    Provision of augmentative and alternative communication interventions to Norwegian preschool children with cerebral palsy: are the right children receiving interventions?
    Augment Altern Commun, 39 (4), 219-229
    DOI 10.1080/07434618.2023.2212068, PubMed 37212772
17. Misceo D, Lirussi L, Strømme P, Sumathipala D, Guerin A, Wolf NI, Server A, Stensland M, Dalhus B, Tolun A, Kroes HY, Nyman TA, Nilsen HL, Frengen E (2023)
    A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
    Brain, 146 (8), 3513-3527
    DOI 10.1093/brain/awad086, PubMed 36917474
18. Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E (2023)
    Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
    Genes (Basel), 14 (11)
    DOI 10.3390/genes14111985, PubMed 38002928
19. Moksnes HØ, Schäfer C, Rasmussen MS, Soberg HL, Røise O, Anke A, Røe C, Næss PA, Gaarder C, Helseth E, Dahl HM, Hestnes M, Brunborg C, Andelic N, Hellstrøm T (2023)
    Functional Outcomes at 6 and 12 Months Post-Injury in a Trauma Centre Population with Moderate-to-Severe Traumatic Injuries
    J Clin Med, 12 (16)
    DOI 10.3390/jcm12165300, PubMed 37629342
20. Moksnes HØ, Schäfer C, Rasmussen MS, Søberg HL, Røise O, Anke A, Røe C, Næss PA, Gaarder C, Helseth E, Dahl HM, Hestnes M, Brunborg C, Andelic N, Hellstrøm T (2023)
    Factors associated with discharge destination from acute care after moderate-to-severe traumatic injuries in Norway: a prospective population-based study
    Inj Epidemiol, 10 (1), 20
    DOI 10.1186/s40621-023-00431-y, PubMed 37055808
21. Oslo Chronic Fatigue Consortium, Alme TN, Andreasson A, Asprusten TT, Bakken AK, Beadsworth MB, Boye B, Brodal PA, Brodwall EM, Brurberg KG, Bugge I, Chalder T, Due R, Eriksen HR, Fink PK, Flottorp SA, Fors EA, Jensen BF, Fundingsrud HP, Garner P, Havdal LB, Helgeland H, Jacobsen HB, Johnson GE, Jonsjö M et al. (2023)
    Chronic fatigue syndromes: real illnesses that people can recover from
    Scand J Prim Health Care, 41 (4), 372-376
    DOI 10.1080/02813432.2023.2235609, PubMed 37740918
22. Rasmussen M, Wallace S, Ørstavik K, Popperud T, Ramm-Pettersen A, Førde R (2023)
    [Start and stop criteria for very costly medicines – the example of spinal muscular atrophy]
    Tidsskr Nor Laegeforen, 143 (14)
    DOI 10.4045/tidsskr.23.0346, PubMed 37830969
23. Rinde ER, Anderzén-Carlsson A, Jahnsen RB, Andersen RD (2023)
    "I have to obey my pain" - children's experiences of pain burden in cerebral palsy
    Disabil Rehabil, 46 (6), 1112-1120
    DOI 10.1080/09638288.2023.2191012, PubMed 36987867
24. Rinde ER, Anderzén-Carlsson A, Jahnsen RB, Andersen RD (2023)
    "Pain is one piece of a complex jigsaw puzzle" - experiences of raising a child with cerebral palsy who has pain
    Disabil Rehabil, 46 (20), 4763-4771
    DOI 10.1080/09638288.2023.2290199, PubMed 38069685
25. Sargénius HL, Andersson S, Haugen I, Hypher R, Brandt AE, Finnanger TG, Rø TB, Risnes K, Stubberud J (2023)
    Cognitive rehabilitation in paediatric acquired brain injury-A 2-year follow-up of a randomised controlled trial
    Front Neurol, 14, 1173480
    DOI 10.3389/fneur.2023.1173480, PubMed 37325227
26. Simeunovic A, Brunborg C, Heier M, Seljeflot I, Dahl-Jørgensen K, Margeirsdottir HD (2023)
    Sustained low-grade inflammation in young participants with childhood onset type 1 diabetes: The Norwegian atherosclerosis and childhood diabetes (ACD) study
    Atherosclerosis, 379, 117151
    DOI 10.1016/j.atherosclerosis.2023.05.020, PubMed 37349194
27. Ullenhag A, Jahnsen R, Klove N, Smedvig S, Hoberg A (2023)
    How did youth with cerebral palsy perceive participation in everyday life after participating in a periodical intensive rehabilitation program based on adapted physical activity in groups? A qualitative interview study
    Disabil Rehabil, 46 (1), 58-66
    DOI 10.1080/09638288.2023.2180096, PubMed 36803505
28. Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Genomics England Research Consortium, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A et al. (2023)
    Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
    Hum Mol Genet, 32 (4), 580-594
    DOI 10.1093/hmg/ddac225, PubMed 36067010
29. Videnovic A, Pfeiffer HCV, Tylki-Szymańska A, Berry-Kravis E, Ezgü F, Ganju J, Jurecka A, Lang AE (2023)
    Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration
    Front Neurol, 14, 1098454
    DOI 10.3389/fneur.2023.1098454, PubMed 36970548
30. Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA et al. (2023)
    Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
    J Inherit Metab Dis, 47 (3), 431-446
    DOI 10.1002/jimd.12658, PubMed 37452721

Publications 2022

1. Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D et al. (2022)
   DNA methylation episignature in Gabriele-de Vries syndrome
   Genet Med, 24 (4), 905-914
   DOI 10.1016/j.gim.2021.12.003, PubMed 35027293
2. Finnanger TG, Andersson S, Chevignard M, Johansen GO, Brandt AE, Hypher RE, Risnes K, Rø TB, Stubberud J (2022)
   Assessment of Executive Function in Everyday Life-Psychometric Properties of the Norwegian Adaptation of the Children's Cooking Task
   Front Hum Neurosci, 15, 761755
   DOI 10.3389/fnhum.2021.761755, PubMed 35185492
3. Frič R, Sorteberg A, Wallace S, Alonso AS, Due-Tønnessen BJ, Wiedmann M (2022)
   [Moyamoya disease in children]
   Tidsskr Nor Laegeforen, 142 (13)
   DOI 10.4045/tidsskr.21.0776, PubMed 36164799
4. Førde S, Herner LB, Helland IB, Diseth TH (2022)
   The biopsychosocial model in paediatric clinical practice-An interdisciplinary approach to somatic symptom disorders
   Acta Paediatr, 111 (11), 2115-2124
   DOI 10.1111/apa.16517, PubMed 36000514
5. Gaden TS, Ghetti C, Kvestad I, Bieleninik Ł, Stordal AS, Assmus J, Arnon S, Elefant C, Epstein S, Ettenberger M, Lichtensztejn M, Lindvall MW, Mangersnes J, Røed CJ, Vederhus BJ, Gold C (2022)
   Short-term Music Therapy for Families With Preterm Infants: A Randomized Trial
   Pediatrics, 149 (2)
   DOI 10.1542/peds.2021-052797, PubMed 34988583
6. Gursli S, Quittner A, Jahnsen RB, Skrede B, Stuge B, Bakkeheim E (2022)
   Airway clearance physiotherapy and health-related quality of life in cystic fibrosis
   PLoS One, 17 (10), e0276310
   DOI 10.1371/journal.pone.0276310, PubMed 36256673
7. Holthe IL, Dahl HM, Rohrer-Baumgartner N, Eichler S, Elseth MF, Holthe Ø, Berntsen T, Yeates KO, Andelic N, Løvstad M (2022)
   Neuropsychological Impairment, Brain Injury Symptoms, and Health-Related Quality of Life After Pediatric TBI in Oslo
   Front Neurol, 12, 719915
   DOI 10.3389/fneur.2021.719915, PubMed 35153967
8. Hypher R, Brandt AE, Skovlund E, Skarbø AB, Barder HE, Andersson S, Rø TB, Risnes K, Finnanger TG, Stubberud J (2022)
   Metacognitive strategy training versus psychoeducation for improving fatigue in children and adolescents with acquired brain injuries: A randomized controlled trial
   Neuropsychology, 36 (7), 579-596
   DOI 10.1037/neu0000845, PubMed 35925734
9. Jensen SM, Müller KI, Mellgren SI, Bindoff LA, Rasmussen M, Ørstavik K, Jonsrud C, Tveten K, Nilssen Ø, Van Ghelue M, Arntzen KA (2022)
   Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
   Neuromuscul Disord, 33 (2), 119-132
   DOI 10.1016/j.nmd.2022.11.005, PubMed 36522254
10. Knudsen M, Stadskleiv K, O'Regan E, Alriksson-Schmidt AI, Andersen GL, Hollung SJ, Korsfelt Å, Ödman P (2022)
    The implementation of systematic monitoring of cognition in children with cerebral palsy in Sweden and Norway
    Disabil Rehabil, 45 (15), 2497-2506
    DOI 10.1080/09638288.2022.2094477, PubMed 35793099
11. Larsen SM, Eide TB, Brunborg C, Ramstad K (2022)
    Daytime contacts and general practitioner consultations, and pain as a reason for encounter in children with cerebral palsy; a Norwegian national registry linkage study
    Scand J Prim Health Care, 40 (4), 474-480
    DOI 10.1080/02813432.2022.2144992, PubMed 36633354
12. Larsen SM, Terjesen T, Jahnsen RB, Diseth TH, Ramstad K (2022)
    Health-related quality of life in adolescents with cerebral palsy; a cross-sectional and longitudinal population-based study
    Child Care Health Dev, 49 (2), 373-381
    DOI 10.1111/cch.13055, PubMed 36041889
13. O'Regan E, Stadskleiv K, Czuba T, Alriksson-Schmidt AI (2022)
    Cognitive assessments among children with cerebral palsy in Sweden and the use of augmentative and alternative communication and interpreters: a cross-sectional registry study
    Disabil Rehabil, 45 (22), 3656-3667
    DOI 10.1080/09638288.2022.2138571, PubMed 36308310
14. Olsson Mägi CA, Wik Despriee Å, Småstuen MC, Almqvist C, Bahram F, Bakkeheim E, Bjerg A, Glavin K, Granum B, Haugen G, Hedlin G, Jonassen CM, Lødrup Carlsen KC, Rehbinder EM, Rolfsjord LB, Staff AC, Skjerven HO, Vettukattil R, Nordlund B, Söderhäll C (2022)
    Maternal Stress, Early Life Factors and Infant Salivary Cortisol Levels
    Children (Basel), 9 (5)
    DOI 10.3390/children9050623, PubMed 35626800
15. Rohrer-Baumgartner N, Holthe IL, Svendsen EJ, Røe C, Egeland J, Borgen IMH, Hauger SL, Forslund MV, Brunborg C, Øra HP, Dahl HM, Bragstad LK, Killi EM, Sandhaug M, Kleffelgård I, Strand-Saugnes AP, Dahl-Hilstad I, Ponsford J, Winter L, Wade S, Løvstad M (2022)
    Rehabilitation for children with chronic acquired brain injury in the Child in Context Intervention (CICI) study: study protocol for a randomized controlled trial
    Trials, 23 (1), 169
    DOI 10.1186/s13063-022-06048-8, PubMed 35193666
16. Romundstad B, Solem S, Brandt AE, Hypher RE, Risnes K, Rø TB, Stubberud J, Finnanger TG (2022)
    Validity of the Behavioural Assessment of the Dysexecutive Syndrome for Children (BADS-C) in children and adolescents with pediatric acquired brain injury
    Neuropsychol Rehabil, 33 (4), 551-573
    DOI 10.1080/09602011.2022.2034649, PubMed 35188081
17. Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK et al. (2022)
    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
    Genet Med, 25 (1), 90-102
    DOI 10.1016/j.gim.2022.09.010, PubMed 36318270
18. Soberg HL, Moksnes HØ, Anke A, Røise O, Røe C, Aas E, Sveen U, Gaarder C, Næss PA, Helseth E, Dahl HM, Becker F, Løvstad M, Bartnes K, Schäfer C, Rasmusssen MS, Perrin P, Lu J, Hellstrøm T, Andelic N (2022)
    Correction: Rehabilitation Needs, Service Provision, and Costs in the First Year Following Traumatic Injuries: Protocol for a Prospective Cohort Study
    JMIR Res Protoc, 11 (3), e37723
    DOI 10.2196/37723, PubMed 35320112
19. Stadskleiv K (2022)
    A novel investigation of eye-gaze as an access method for children with dyskinetic cerebral palsy
    Dev Med Child Neurol, 64 (11), 1318-1319
    DOI 10.1111/dmcn.15269, PubMed 35598090
20. Stadskleiv K, Batorowicz B, Sandberg AD, Launonen K, Murray J, Neuvonen K, Oxley J, Renner G, Smith MM, Soto G, van Balkom H, Walter C, Yang CK, von Tetzchner S (2022)
    Aided communication, mind understanding and co-construction of meaning
    Dev Neurorehabil, 25 (8), 518-530
    DOI 10.1080/17518423.2022.2099030, PubMed 35848118
21. Stenshorne I, Syvertsen M, Ramm-Pettersen A, Henning S, Weatherup E, Bjørnstad A, Brüggemann N, Spetalen T, Selmer KK, Koht J (2022)
    Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway
    Front Pediatr, 10, 965282
    DOI 10.3389/fped.2022.965282, PubMed 35979408
22. Stubberud J, Hypher R, Brandt AE, Finnanger TG, Skovlund E, Andersson S, Risnes K, Rø TB (2022)
    Predictors of Functional School Outcome in Children With Pediatric Acquired Brain Injury
    Front Neurol, 13, 872469
    DOI 10.3389/fneur.2022.872469, PubMed 35493829
23. Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D (2022)
    ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
    Brain, 145 (7), 2602-2616
    DOI 10.1093/brain/awac034, PubMed 35104841
24. Torske T, Nærland T, Quintana DS, Hypher RE, Kaale A, Høyland AL, Hope S, Johannessen J, Øie MG, Andreassen OA (2022)
    Sex as a Moderator Between Parent Ratings of Executive Dysfunction and Social Difficulties in Children and Adolescents with Autism Spectrum Disorder
    J Autism Dev Disord, 53 (10), 3847-3859
    DOI 10.1007/s10803-022-05629-5, PubMed 35838825
25. Waehre A, Heggeli C, Hald K, Myhre AG, Diseth T (2022)
    A 15-20-year follow-up of mental health, psychosocial functioning and quality of life in a single center sample of individuals with differences in sex development
    Health Psychol Behav Med, 10 (1), 837-854
    DOI 10.1080/21642850.2022.2116329, PubMed 36105256
26. Ørstavik K, Arntzen KA, Mathisen P, Backe PH, Tangeraas T, Rasmussen M, Kristensen E, Van Ghelue M, Jonsrud C, Bliksrud YT (2022)
    Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
    JIMD Rep, 63 (3), 193-198
    DOI 10.1002/jmd2.12276, PubMed 35433169

Publications 2021

1. Andelic N, Røe C, Brunborg C, Zeldovich M, Løvstad M, Løke D, Borgen IM, Voormolen DC, Howe EI, Forslund MV, Dahl HM, von Steinbuechel N, CENTER-TBI participants investigators (2021)
   Correction to: Frequency of fatigue and its changes in the first 6 months after traumatic brain injury: results from the CENTER-TBI study
   J Neurol, 268 (1), 74-76
   DOI 10.1007/s00415-020-10174-1, PubMed 32910254
2. Andelic N, Røe C, Tenovuo O, Azouvi P, Dawes H, Majdan M, Ranta J, Howe EI, Wiegers EJA, Tverdal C, Borgen I, Forslund MV, Kleffelgaard I, Dahl HM, Jacob L, Cogné M, Lu J, von Steinbuechel N, Zeldovich M (2021)
   Unmet Rehabilitation Needs after Traumatic Brain Injury across Europe: Results from the CENTER-TBI Study
   J Clin Med, 10 (5)
   DOI 10.3390/jcm10051035, PubMed 33802336
3. Andersen RD, Genik L, Alriksson-Schmidt AI, Anderzen-Carlsson A, Burkitt C, Bruflot SK, Chambers CT, Jahnsen RB, Jeglinsky-Kankainen I, Kildal OA, Ramstad K, Sheriko J, Symons FJ, Wallin L, Andersen GL (2021)
   Pain burden in children with cerebral palsy (CPPain) survey: Study protocol
   Paediatr Neonatal Pain, 4 (1), 12-22
   DOI 10.1002/pne2.12049, PubMed 35546915
4. Arfa S, Solvang PK, Berg B, Jahnsen R (2021)
   Participation in a rehabilitation program based on adapted physical activities in Norway: a qualitative study of experiences of immigrant parents and their children with disabilities
   Disabil Rehabil, 44 (9), 1642-1649
   DOI 10.1080/09638288.2021.1907454, PubMed 33826448
5. Baklund IH, Dammen T, Moum TÅ, Kristiansen W, Duarte DS, Castro-Marrero J, Helland IB, Strand EB (2021)
   Evaluating Routine Blood Tests According to Clinical Symptoms and Diagnostic Criteria in Individuals with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
   J Clin Med, 10 (14)
   DOI 10.3390/jcm10143105, PubMed 34300271
6. Berg AK, Diseth TH, Abrahamsen TG, Halvorsen K, Reinfjell T, Erichsen HC (2021)
   Primary antibody deficiency: The impact on the quality of life and mental health of affected children and their parents
   Acta Paediatr, 110 (5), 1645-1652
   DOI 10.1111/apa.15752, PubMed 33420742
7. Blichfeldt-AEro SC, Halvorsen S, Trondalen G (2021)
   Music therapy in invasive cardiac procedures: Expanded perspective
   BRIT. J. MUSIC THER., 13594575211039090
   DOI 10.1177/13594575211039090
8. Brandt AE, Finnanger TG, Hypher RE, Rø TB, Skovlund E, Andersson S, Risnes K, Stubberud J (2021)
   Rehabilitation of executive function in chronic paediatric brain injury: a randomized controlled trial
   BMC Med, 19 (1), 253
   DOI 10.1186/s12916-021-02129-8, PubMed 34724955
9. Bufteac Gincota E, Jahnsen R, Spinei L, Andersen GL (2021)
   Risk Factors for Cerebral Palsy in Moldova
   Medicina (Kaunas), 57 (6)
   DOI 10.3390/medicina57060540, PubMed 34071238
10. Christensen JJ, Narverud I, Ruuth M, Heier M, Jauhiainen M, Ulven SM, Bogsrud MP, Kovanen PT, Halvorsen B, Oda MN, Wium C, Retterstøl K, Öörni K, Holven KB (2021)
    Children with familial hypercholesterolemia display changes in LDL and HDL function: A cross-sectional study
    J Intern Med, 290 (5), 1083-1097
    DOI 10.1111/joim.13383, PubMed 34506681
11. Dahl HM, Andelic N, Løvstad M, Holthe IL, Hestnes M, Diseth TH, Myhre MC (2021)
    Epidemiology of traumatic brain injury in children 15 years and younger in South-Eastern Norway in 2015-16. Implications for prevention and follow-up needs
    Eur J Paediatr Neurol, 31, 70-77
    DOI 10.1016/j.ejpn.2021.02.002, PubMed 33647532
12. Ellis MJ, Larsen K, Havighurst SS (2021)
    Childhood Disintegrative Disorder (CDD): Symptomatology of the Norwegian Patient Population and Parents' Experiences of Patient Regression
    J Autism Dev Disord, 52 (4), 1495-1506
    DOI 10.1007/s10803-021-05023-7, PubMed 33934283
13. García-Azorín D, Seeher KM, Newton CR, Okubadejo NU, Pilotto A, Saylor D, Winkler AS, Charfi Triki C, Leonardi M (2021)
    Disruptions of neurological services, its causes and mitigation strategies during COVID-19: a global review
    J Neurol, 268 (11), 3947-3960
    DOI 10.1007/s00415-021-10588-5, PubMed 34021772
14. Grosch IB, Andresen B, Diep LM, Diseth TH, Möller T (2021)
    Quality of life and emotional vulnerability in a national cohort of adolescents living with Fontan circulation
    Cardiol Young, 32 (6), 874-882
    DOI 10.1017/S1047951121003188, PubMed 34387177
15. Grosch IB, Andresen B, Diep LM, Diseth TH, Möller T (2021)
    Quality of life and emotional vulnerability in a national cohort of adolescents living with Fontan circulation - CORRIGENDUM
    Cardiol Young, 32 (7), 1192
    DOI 10.1017/S1047951121003802, PubMed 34486506
16. Gulseth E, Urdal A, Andersen MH, Diseth T, Aksnes G, Emblem R, Wæhre A (2021)
    High satisfaction on genital self-perception and sexual function in healthy Norwegian male adolescents
    J Pediatr Urol, 17 (4), 555.e1-555.e8
    DOI 10.1016/j.jpurol.2021.02.015, PubMed 33750647
17. Helgeland H, Lindheim MØ, Diseth TH, Brodal PA (2021)
    Clinical hypnosis - a revitalisation of the art of medicine
    Tidsskr Nor Laegeforen, 141 (7)
    DOI 10.4045/tidsskr.21.0098, PubMed 33950642
18. Hägglund G, Hollung SJ, Ahonen M, Andersen GL, Eggertsdóttir G, Gaston MS, Jahnsen R, Jeglinsky-Kankainen I, Nordbye-Nielsen K, Tresoldi I, Alriksson-Schmidt AI (2021)
    Treatment of spasticity in children and adolescents with cerebral palsy in Northern Europe: a CP-North registry study
    BMC Neurol, 21 (1), 276
    DOI 10.1186/s12883-021-02289-3, PubMed 34253183
19. Imms C, Jahnsen R, Ullenhag A (2021)
    Capture the magic: participation for all
    Disabil Rehabil, 44 (9), 1556-1557
    DOI 10.1080/09638288.2021.1994026, PubMed 34693841
20. Jung A, Orenti A, Dunlevy F, Aleksejeva E, Bakkeheim E, Bobrovnichy V, Carr SB, Colombo C, Corvol H, Cosgriff R, Daneau G, Dogru D, Drevinek P, Vukic AD, Fajac I, Fox A, Fustik S, Gulmans V, Harutyunyan S, Hatziagorou E, Kasmi I, Kayserová H, Kondratyeva E, Krivec U, Makukh H et al. (2021)
    Factors for severe outcomes following SARS-CoV-2 infection in people with cystic fibrosis in Europe
    ERJ Open Res, 7 (4)
    DOI 10.1183/23120541.00411-2021, PubMed 34984210
21. Kalleson R, Jahnsen R, Østensjø S (2021)
    Exploring participation in family and recreational activities among children with cerebral palsy during early childhood: how does it relate to motor function and parental empowerment?
    Disabil Rehabil, 44 (9), 1560-1570
    DOI 10.1080/09638288.2021.1894608, PubMed 33749471
22. Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julia Palacios NA, Friedman J, Yıldız Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H, International Working Group on Neurotransmitter related Disorders (iNTD), Burlina A, Cortès-Saladelafont E, Fernández Ramos JA, García-Cazorla A, Hoffmann GF, Kiat Hong ST et al. (2021)
    Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
    J Inherit Metab Dis, 44 (6), 1489-1502
    DOI 10.1002/jimd.12416, PubMed 34245036
23. Kildal E, Stadskleiv K, Boysen ES, Øderud T, Dahl IL, Seeberg TM, Guldal S, Strisland F, Morland C, Hassel B (2021)
    Increased heart rate functions as a signal of acute distress in non-communicating persons with intellectual disability
    Sci Rep, 11 (1), 6479
    DOI 10.1038/s41598-021-86023-6, PubMed 33742078
24. Klevberg GL, Jahnsen R, Elkjaer S, Zucknick M (2021)
    Hand use development in children with unilateral cerebral palsy
    Dev Med Child Neurol, 63 (12), 1462-1468
    DOI 10.1111/dmcn.14957, PubMed 34152004
25. Kozlowska K, Sawchuk T, Waugh JL, Helgeland H, Baker J, Scher S, Fobian AD (2021)
    Changing the culture of care for children and adolescents with functional neurological disorder
    Epilepsy Behav Rep, 16, 100486
    DOI 10.1016/j.ebr.2021.100486, PubMed 34761194
26. Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V et al. (2021)
    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
    Nat Commun, 12 (1), 5529
    DOI 10.1038/s41467-021-25515-5, PubMed 34545092
27. Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF et al. (2021)
    Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
    J Inherit Metab Dis, 44 (4), 1070-1082
    DOI 10.1002/jimd.12360, PubMed 33443316
28. Larsen SM, Ramstad K, Terjesen T (2021)
    Hip pain in adolescents with cerebral palsy: a population-based longitudinal study
    Dev Med Child Neurol, 63 (5), 601-607
    DOI 10.1111/dmcn.14782, PubMed 33393085
29. Larsen SM, Terjesen T, Jahnsen RB, Ramstad K (2021)
    Recurrent pain in adolescents with cerebral palsy: a longitudinal population-based study
    Dev Med Child Neurol, 64 (3), 357-363
    DOI 10.1111/dmcn.15040, PubMed 34448501
30. Magelssen M, Rasmussen M, Wallace S, Førde R (2021)
    Priority setting at the clinical level: the case of nusinersen and the Norwegian national expert group
    BMC Med Ethics, 22 (1), 54
    DOI 10.1186/s12910-021-00623-5, PubMed 33947377
31. Miklos M, Jahnsen R, Nyquist A, Hanisch H, Girdler S (2021)
    "Here we are together, at home you are alone" - social interactions and personal engagement during a group-based rehabilitation program for young adults with disability
    Disabil Rehabil, 44 (9), 1631-1641
    DOI 10.1080/09638288.2021.1921060, PubMed 34000938
32. Miklos M, Jahnsen R, Nyquist A, Ullenhag A (2021)
    How transactional relations contribute to adaptive developmental outcomes when young people with disabilities participate in specially designed group programs - a scoping review
    Scand J Occup Ther, 29 (8), 670-685
    DOI 10.1080/11038128.2021.1903989, PubMed 33820493
33. Nacul L, Authier FJ, Scheibenbogen C, Lorusso L, Helland IB, Martin JA, Sirbu CA, Mengshoel AM, Polo O, Behrends U, Nielsen H, Grabowski P, Sekulic S, Sepulveda N, Estévez-López F, Zalewski P, Pheby DFH, Castro-Marrero J, Sakkas GK, Capelli E, Brundsdlund I, Cullinan J, Krumina A, Bergquist J, Murovska M et al. (2021)
    European Network on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (EUROMENE): Expert Consensus on the Diagnosis, Service Provision, and Care of People with ME/CFS in Europe
    Medicina (Kaunas), 57 (5)
    DOI 10.3390/medicina57050510, PubMed 34069603
34. Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS et al. (2021)
    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
    J Clin Endocrinol Metab, 106 (2), e660-e674
    DOI 10.1210/clinem/dgaa700, PubMed 33005949
35. Pfeiffer HCV, De Visscher C, Gjone IH, Ygberg S, Herner LB, Hesselmark E, Idring Nordstrom S, Sandvig I, Skov L, Sørensen CB, Lim M, Wickstrom R, Hedderly T, Debes NM (2021)
    Authors' reply regarding "On diagnosing and treating PANS/PANDAS: Questions from a patient support group"
    Acta Paediatr, 110 (12), 3390-3391
    DOI 10.1111/apa.16149, PubMed 34644418
36. Pfeiffer HCV, Wickstrom R, Skov L, Sørensen CB, Sandvig I, Gjone IH, Ygberg S, de Visscher C, Idring Nordstrom S, Herner LB, Hesselmark E, Hedderly T, Lim M, Debes NM (2021)
    Clinical guidance for diagnosis and management of suspected Pediatric Acute-onset Neuropsychiatric Syndrome in the Nordic countries
    Acta Paediatr, 110 (12), 3153-3160
    DOI 10.1111/apa.15875, PubMed 33848371
37. Similä WA, Nøst TH, Helland IB, Rø TB (2021)
    Factors related to educational adaptations and social life at school experienced by young people with CFS/ME: a qualitative study
    BMJ Open, 11 (11), e051094
    DOI 10.1136/bmjopen-2021-051094, PubMed 34794992
38. Skaaret I, Steen H, Niratisairak S, Swanson D, Holm I (2021)
    Postoperative changes in vertical ground reaction forces, walking barefoot and with ankle-foot orthoses in children with Cerebral Palsy
    Clin Biomech (Bristol), 84, 105336
    DOI 10.1016/j.clinbiomech.2021.105336, PubMed 33848706
39. Soberg HL, Moksnes HØ, Anke A, Røise O, Røe C, Aas E, Sveen U, Gaarder C, Næss PA, Helseth E, Dahl HM, Becker F, Løvstad M, Bartnes K, Schäfer C, Rasmussen MS, Perrin P, Lu J, Hellstrøm T, Andelic N (2021)
    Rehabilitation Needs, Service Provision, and Costs in the First Year Following Traumatic Injuries: Protocol for a Prospective Cohort Study
    JMIR Res Protoc, 10 (4), e25980
    DOI 10.2196/25980, PubMed 33688841
40. Stadskleiv K, van Walsem MR, Andersen GL, Bergqvist L, Bøttcher L, Christensen K, Heyerdahl D, Hollung SJ, Høye H, Jahnsen R, Klevberg GL, Lindquist B, Passmark H, Rike PO, Rodby-Bousquet E, Alriksson-Schmidt AI (2021)
    Systematic Monitoring of Cognition for Adults With Cerebral Palsy-The Rationale Behind the Development of the CPCog-Adult Follow-Up Protocol
    Front Neurol, 12, 710440
    DOI 10.3389/fneur.2021.710440, PubMed 34630285
41. Steinhardt F, Dolva AS, Jahnsen R, Ullenhag A (2021)
    Exploring two subdimensions of participation, involvement and engagement: A scoping review
    Scand J Occup Ther, 29 (6), 441-463
    DOI 10.1080/11038128.2021.1950207, PubMed 34242105
42. Strømme P (2021)
    Angry puppet - a neurological syndrome in crime fiction
    Tidsskr Nor Laegeforen, 141 (5)
    DOI 10.4045/tidsskr.20.0729, PubMed 33754662
43. Stubberud A, Linde M, Brenner E, Heier M, Olsen A, Aamodt AH, Gravdahl GB, Tronvik E (2021)
    Self-administered biofeedback treatment app for pediatric migraine: A randomized pilot study
    Brain Behav., 11 (2), e01974
    DOI 10.1002/brb3.1974
44. Tollisen A, Flatø B, Selvaag AM, Aasland A, Ingebrigtsen T, Sagen J, Lerdal A (2021)
    Treatment Satisfaction With and Adherence to Disease-Modifying Antirheumatic Drugs in Adult Patients With Juvenile Idiopathic Arthritis
    Arthritis Care Res (Hoboken), 73 (2), 221-231
    DOI 10.1002/acr.24113, PubMed 31758669
45. Veiby NCBB, Simeunovic A, Heier M, Brunborg C, Saddique N, Moe MC, Dahl-Jørgensen K, Petrovski G, Margeirsdottir HD (2021)
    Retinal venular oxygen saturation is associated with non-proliferative diabetic retinopathy in young patients with type 1 diabetes
    Acta Ophthalmol, 100 (4), 388-394
    DOI 10.1111/aos.15018, PubMed 34668632
46. Aamodt AH, Tauboll E, Eichele T, Romundstad L, Sorteberg A, Wallace S, Fromm A, Raastad MF, Sand T, Skagen K, Eltoft A, Kefaloykos C, Frisvold SK, Nilsen KB, Carlsson M, Brathen G, Bakke I, Horn MA, Wiedmann M, Tennoe B, Totland JA, Ronning OM, Kurz M, Storstein A (2021)
    Brain monitoring in hospitals needs to be strengthened
    Tidsskr. Nor. Laegeforen., 141 (15), 1431-1433
47. Aamodt AH, Taubøll E, Eichele T, Romundstad L, Sorteberg A, Wallace S, Fromm A, Raastad MF, Sand T, Skagen K, Eltoft A, Kefaloykos C, Frisvold SK, Nilsen KB, Carlsson M, Bråthen G, Bakke I, Horn MA, Wiedmann M, Tennøe B, Totland JA, Rønning OM, Kurz M, Storstein A (2021)
    Brain monitoring in hospitals needs to be strengthened
    Tidsskr Nor Laegeforen, 141
    DOI 10.4045/tidsskr.21.0412, PubMed 34726044

Publications 2020

1. Alriksson-Schmidt AI, Jeglinsky I, Jonsdottir G, Kedir Seid A, Klevberg G, Buschmann E, Jahnsen R (2020)
   Living life with cerebral palsy? A description of the social safety nets for individuals with cerebral palsy in the Nordic countries
   Scand J Public Health, 49 (6), 653-665
   DOI 10.1177/1403494820974564, PubMed 33323047
2. Andelic N, Røe C, Brunborg C, Zeldovich M, Løvstad M, Løke D, Borgen IM, Voormolen DC, Howe EI, Forslund MV, Dahl HM, von Steinbuechel N, CENTER-TBI participants investigators (2020)
   Frequency of fatigue and its changes in the first 6 months after traumatic brain injury: results from the CENTER-TBI study
   J Neurol, 268 (1), 61-73
   DOI 10.1007/s00415-020-10022-2, PubMed 32676767
3. Arfa S, Solvang PK, Berg B, Jahnsen R (2020)
   Disabled and immigrant, a double minority challenge: a qualitative study about the experiences of immigrant parents of children with disabilities navigating health and rehabilitation services in Norway
   BMC Health Serv Res, 20 (1), 134
   DOI 10.1186/s12913-020-5004-2, PubMed 32087730
4. Arfa S, Solvang PK, Berg B, Jahnsen R (2020)
   Challenges and facilitators in supporting sustainable participation after rehabilitation: Experiences of immigrant parents and their children with disabilities
   Scand J Occup Ther, 29 (8), 631-644
   DOI 10.1080/11038128.2020.1856183, PubMed 33300814
5. Bang L, Tamnes CK, Norbom LB, Thomassen RA, Holm JS, Skotte LH, Juliusson PB, Mejlaender-Evjensvold M, Rø Ø (2020)
   Associations of age, body mass index and biochemical parameters with brain morphology in patients with anorexia nervosa
   Eur Eat Disord Rev, 29 (1), 74-85
   DOI 10.1002/erv.2803, PubMed 33125776
6. Birketvedt K, Mikkelsen A, Klingen LL, Henriksen C, Helland IB, Emblem R (2020)
   Nutritional Status in Adolescents with Esophageal Atresia
   J Pediatr, 218, 130-137
   DOI 10.1016/j.jpeds.2019.11.034, PubMed 31982089
7. C B B Veiby N, Simeunovic A, Heier M, Brunborg C, Saddique N, Moe MC, Dahl-Jørgensen K, Margeirsdottir HD, Petrovski G (2020)
   Venular oxygen saturation is increased in young patients with type 1 diabetes and mild nonproliferative diabetic retinopathy
   Acta Ophthalmol, 98 (8), 800-807
   DOI 10.1111/aos.14462, PubMed 32410388
8. Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE et al. (2020)
   Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
   Hum Mutat, 41 (12), 2179-2194
   DOI 10.1002/humu.24127, PubMed 33131181
9. Fiske SI, Haddeland AL, Skipar I, Bootsma JN, Geytenbeek JJ, Stadskleiv K (2020)
   Assessing language comprehension in motor impaired children needing AAC: validity and reliability of the Norwegian version of the receptive language test C-BiLLT
   Augment Altern Commun, 36 (2), 95-106
   DOI 10.1080/07434618.2020.1786857, PubMed 32706281
10. Fosdahl MA, Jahnsen R, Pripp AH, Holm I (2020)
    Change in popliteal angle and hamstrings spasticity during childhood in ambulant children with spastic bilateral cerebral palsy. A register-based cohort study
    BMC Pediatr, 20 (1), 11
    DOI 10.1186/s12887-019-1891-y, PubMed 31914961
11. Gjesdal BE, Jahnsen R, Morgan P, Opheim A, Mæland S (2020)
    Walking through life with cerebral palsy: reflections on daily walking by adults with cerebral palsy
    Int J Qual Stud Health Well-being, 15 (1), 1746577
    DOI 10.1080/17482631.2020.1746577, PubMed 32238123
12. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA (2020)
    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
    J Inherit Metab Dis, 43 (4), 726-736
    DOI 10.1002/jimd.12211, PubMed 32391929
13. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Samsonsen C, Brodtkorb E, Ostergaard E, de Coo R, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA (2020)
    The impact of gender, puberty, and pregnancy in patients with POLG disease
    Ann Clin Transl Neurol, 7 (10), 2019-2025
    DOI 10.1002/acn3.51199, PubMed 32949115
14. Hikmat O, Vederhus BJ, Benestad MR, Engeset IME, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Elgen IB, Bindoff LA (2020)
    Mental health and health related quality of life in mitochondrial POLG disease
    Mitochondrion, 55, 95-99
    DOI 10.1016/j.mito.2020.09.005, PubMed 32976988
15. Hoel AT, Tofft L, Bjørnland K, Gjone H, Teig CJ, Øresland T, Stenström P, Andersen MH (2020)
    Reaching adulthood with Hirschsprung's disease: Patient experiences and recommendations for transitional care
    J Pediatr Surg, 56 (2), 257-262
    DOI 10.1016/j.jpedsurg.2020.05.015, PubMed 32586610
16. Hunderi JOG, Rolfsjord LB, Carlsen KCL, Holst R, Bakkeheim E, Berents TL, Carlsen KH, Skjerven HO (2020)
    Virus, allergic sensitisation and cortisol in infant bronchiolitis and risk of early asthma
    ERJ Open Res, 6 (1)
    DOI 10.1183/23120541.00268-2019, PubMed 32201686
17. Høye H, Jahnsen RB, Løvstad M, Hartveit JF, Sørli H, Tornås S, Månum G (2020)
    A Mindfulness-Based Stress Reduction Program via Group Video Conferencing for Adults With Cerebral Palsy - A Pilot Study
    Front Neurol, 11, 195
    DOI 10.3389/fneur.2020.00195, PubMed 32318010
18. Kinge E, Glott T, Skjeldal OH (2020)
    Lack of quality assurance of professional work
    Tidsskr. Nor. Laegeforen., 140 (15), 1527-1528
19. Klopstock T, Videnovic A, Bischoff AT, Bonnet C, Cif L, Comella C, Correa-Vela M, Escolar ML, Fraser JL, Gonzalez V, Hermanowicz N, Jech R, Jinnah HA, Kmiec T, Lang A, Martí MJ, Mercimek-Andrews S, Monduy M, Nimmo GAM, Perez-Dueñas B, Pfeiffer HCV, Planellas L, Roze E, Thakur N, Tochen L et al. (2020)
    Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration
    Mov Disord, 36 (6), 1342-1352
    DOI 10.1002/mds.28392, PubMed 33200489
20. Kolset SO, Heier M, Retterstol K (2020)
    Lipoprotein retention in the vascular wall - a potential therapeutic target?
    Tidsskr. Nor. Laegeforen., 140 (10), 987-989
21. Larsen K, Aasland A, Schjølberg S, Hansen UI, Diseth TH (2020)
    Piloting the Use of a Short Observation List for ASD-Symptoms in Day-Care: Challenges and Further Possibilities
    J Autism Dev Disord, 50 (9), 3413-3423
    DOI 10.1007/s10803-019-04313-5, PubMed 31797183
22. Lindheim MØ, Johnsen SÅK, Hauge ÅL, Diseth TH (2020)
    The Outdoor Care Retreat
    Tidsskr Nor Laegeforen, 140 (16)
    DOI 10.4045/tidsskr.20.0409, PubMed 33172242
23. Mengshoel AM, Helland IB, Meeus M, Castro-Marrero J, Pheby D, Bolle Strand E (2020)
    Patients' experiences and effects of non-pharmacological treatment for myalgic encephalomyelitis/chronic fatigue syndrome - a scoping mixed methods review
    Int J Qual Stud Health Well-being, 15 (1), 1764830
    DOI 10.1080/17482631.2020.1764830, PubMed 32432991
24. Mikkelsen A, Boye B, Diseth TH, Malt U, Mørkrid L, IJsselstijn H, Emblem R (2020)
    Traumatic stress, mental health, and quality of life in adolescents with esophageal atresia
    J Pediatr Surg, 57 (7), 1423-1431
    DOI 10.1016/j.jpedsurg.2020.10.029, PubMed 33223226
25. Ona HN, Larsen K, Nordheim LV, Brurberg KG (2020)
    Effects of Pivotal Response Treatment (PRT) for Children with Autism Spectrum Disorders (ASD): a Systematic Review
    Rev. J. Autism Dev. Disord., 7 (1), 78-90
    DOI 10.1007/s40489-019-00180-z
26. Pearson TS, Gilbert L, Opladen T, Garcia-Cazorla A, Mastrangelo M, Leuzzi V, Tay SKH, Sykut-Cegielska J, Pons R, Mercimek-Andrews S, Kato M, Lücke T, Oppebøen M, Kurian MA, Steel D, Manti F, Meeks KD, Jeltsch K, Flint L (2020)
    AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
    J Inherit Metab Dis, 43 (5), 1121-1130
    DOI 10.1002/jimd.12247, PubMed 32369189
27. Server Alonso A, Sakinis T, Pfeiffer HCV, Sandvig I, Barlinn J, Marthinsen PB (2020)
    Understanding Pediatric Neuroimmune Disorder Conflicts: A Neuroradiologic Approach in the Molecular Era
    Radiographics, 40 (5), 1395-1411
    DOI 10.1148/rg.2020200032, PubMed 32735475
28. Similä WA, Halsteinli V, Helland IB, Suvatne C, Elmi H, Rø TB (2020)
    Health-related quality of life in Norwegian adolescents living with chronic fatigue syndrome
    Health Qual Life Outcomes, 18 (1), 170
    DOI 10.1186/s12955-020-01430-z, PubMed 32503553
29. Stadskleiv K (2020)
    Cognitive functioning in children with cerebral palsy
    Dev Med Child Neurol, 62 (3), 283-289
    DOI 10.1111/dmcn.14463, PubMed 32010976
30. Stadskleiv K, Stensvold E, Stokka K, Bechensteen AG, Brandal P (2020)
    Neuropsychological functioning in survivors of childhood medulloblastoma/CNS-PNET: The role of secondary medical complications
    Clin Neuropsychol, 36 (3), 600-625
    DOI 10.1080/13854046.2020.1794045, PubMed 32729777
31. Stensvold E, Stadskleiv K, Myklebust TÅ, Wesenberg F, Helseth E, Bechensteen AG, Brandal P (2020)
    Unmet rehabilitation needs in 86% of Norwegian paediatric embryonal brain tumour survivors
    Acta Paediatr, 109 (9), 1875-1886
    DOI 10.1111/apa.15188, PubMed 31977119
32. Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, Frengen E (2020)
    Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
    BMC Med Genet, 21 (1), 96
    DOI 10.1186/s12881-020-01024-y, PubMed 32381069
33. Sumathipala DS, Misceo D, Larsen SM, Barøy T, Gamage TH, Frengen E, Strømme P (2020)
    A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
    Clin Dysmorphol, 29 (2), 107-110
    DOI 10.1097/MCD.0000000000000314, PubMed 31929336
34. Tofft L, Hoel AT, Håkansson C, Zawadzki A, Gjone H, Øresland T, Bjørnland K, Stenström P (2020)
    Key components of successful transition for adolescents born with anorectal malformations-a Nordic focus group study
    Int J Adolesc Med Health, 34 (4), 211-218
    DOI 10.1515/ijamh-2020-0052, PubMed 32887184

Publications 2019

1. Alriksson-Schmidt AI, Ahonen M, Andersen GL, Eggertsdóttir G, Haula T, Jahnsen R, Jarl J, Jeglinsky-Kankainen I, Jonsdottir G, Seid AK, Ásgeirsdóttir TL, Møller-Madsen B, Nordbye-Nielsen K, Saha S, Steskal D, Sääksvuori L, Hägglund G (2019)
   CP-North: living life in the Nordic countries? A retrospective register research protocol on individuals with cerebral palsy and their parents living in Sweden, Norway, Denmark, Finland and Iceland
   BMJ Open, 9 (10), e024438
   DOI 10.1136/bmjopen-2018-024438, PubMed 31575533
2. Annexstad EJ, Bollerslev J, Westvik J, Myhre AG, Godang K, Holm I, Rasmussen M (2019)
   The role of delayed bone age in the evaluation of stature and bone health in glucocorticoid treated patients with Duchenne muscular dystrophy
   Int J Pediatr Endocrinol, 2019, 4
   DOI 10.1186/s13633-019-0070-0, PubMed 31889957
3. Annexstad EJ, Fagerheim T, Holm I, Rasmussen M (2019)
   Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway
   J Neuromuscul Dis, 6 (3), 349-359
   DOI 10.3233/JND-190402, PubMed 31381525
4. Arntsen V, Strandheim J, Helland IB, Sand T, Brodtkorb E (2019)
   Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan
   Epilepsy Behav, 94, 59-64
   DOI 10.1016/j.yebeh.2019.02.020, PubMed 30884409
5. Berntsen S, Edvardsen E, Gerbi S, Kolsgaard ML, Anderssen SA (2019)
   Do Obese Children Achieve Maximal Heart Rate during Treadmill Running?
   Sports (Basel), 7 (1)
   DOI 10.3390/sports7010026, PubMed 30669424
6. Bjurulf B, Magnus P, Hallböök T, Strømme P (2019)
   Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study
   Dev Med Child Neurol, 62 (1), 57-61
   DOI 10.1111/dmcn.14393, PubMed 31745987
7. Filges I, Stromme P (2019)
   CUGC for Stromme syndrome and CENPF-related disorders
   Eur J Hum Genet, 28 (1), 132-136
   DOI 10.1038/s41431-019-0498-y, PubMed 31488893
8. Fosdahl MA, Jahnsen R, Kvalheim K, Holm I (2019)
   Effect of a Combined Stretching and Strength Training Program on Gait Function in Children with Cerebral Palsy, GMFCS Level I & II: A Randomized Controlled Trial
   Medicina (Kaunas), 55 (6)
   DOI 10.3390/medicina55060250, PubMed 31174397
9. Fosdahl MA, Jahnsen R, Kvalheim K, Holm I (2019)
   Stretching and Progressive Resistance Exercise in Children With Cerebral Palsy: A Randomized Controlled Trial
   Pediatr Phys Ther, 31 (3), 264-271
   DOI 10.1097/PEP.0000000000000616, PubMed 31220010
10. Hypher RE, Brandt AE, Risnes K, Rø TB, Skovlund E, Andersson S, Finnanger TG, Stubberud J (2019)
    Paediatric goal management training in patients with acquired brain injury: study protocol for a randomised controlled trial
    BMJ Open, 9 (8), e029273
    DOI 10.1136/bmjopen-2019-029273, PubMed 31375619
11. Kalleson R, Jahnsen R, Østensjø S (2019)
    Empowerment in families raising a child with cerebral palsy during early childhood: Associations with child, family and service characteristics
    Child Care Health Dev, 46 (1), 19-27
    DOI 10.1111/cch.12716, PubMed 31503355
12. Khachane Y, Kozlowska K, Savage B, McClure G, Butler G, Gray N, Worth A, Mihailovich S, Perez DL, Helgeland H, Chrousos GP (2019)
    Twisted in Pain: The Multidisciplinary Treatment Approach to Functional Dystonia
    Harv Rev Psychiatry, 27 (6), 359-381
    DOI 10.1097/HRP.0000000000000237, PubMed 31714467
13. Lofstad GE, Reinfjell T, Weider S, Diseth TH, Hestad K (2019)
    Neurocognitive Outcome and Compensating Possibilities in Children and Adolescents Treated for Acute Lymphoblastic Leukemia With Chemotherapy Only
    Front Psychol, 10, 1027
    DOI 10.3389/fpsyg.2019.01027, PubMed 31156497
14. Nyquist A, Jahnsen RB, Moser T, Ullenhag A (2019)
    The coolest I know - a qualitative study exploring the participation experiences of children with disabilities in an adapted physical activities program
    Disabil Rehabil, 42 (17), 2501-2509
    DOI 10.1080/09638288.2019.1573937, PubMed 31006287
15. Rolfsjord LB, Skjerven HO, Bakkeheim E, Berents TL, Carlsen KH, Carlsen KCL (2019)
    Quality of life, salivary cortisol and atopic diseases in young children
    PLoS One, 14 (8), e0214040
    DOI 10.1371/journal.pone.0214040, PubMed 31469854
16. Skaaret I, Steen H, Huse AB, Holm I (2019)
    Comparison of gait with and without ankle-foot orthoses after lower limb surgery in children with unilateral cerebral palsy
    J Child Orthop, 13 (2), 180-189
    DOI 10.1302/1863-2548.13.180146, PubMed 30996743
17. Smeland AH, Rustøen T, Naess T, Nybro L, Lundeberg S, Reinertsen H, Diseth TH, Twycross A (2019)
    Children's views on postsurgical pain in recovery units in Norway: A qualitative study
    J Clin Nurs, 28 (11-12), 2157-2170
    DOI 10.1111/jocn.14788, PubMed 30667569
18. Steinhardt F, Ullenhag A, Jahnsen R, Dolva AS (2019)
    Perceived facilitators and barriers for participation in leisure activities in children with disabilities: Perspectives of children, parents and professionals
    Scand J Occup Ther, 28 (2), 121-135
    DOI 10.1080/11038128.2019.1703037, PubMed 31852318
19. Stenshorne I, Rasmussen M, Salvanos P, Tallaksen CME, Bindoff LA, Koht J (2019)
    Fever-related ataxia: a case report of CAPOS syndrome
    Cerebellum Ataxias, 6, 2
    DOI 10.1186/s40673-019-0096-3, PubMed 31410291
20. Strand EB, Mengshoel AM, Sandvik L, Helland IB, Abraham S, Nes LS (2019)
    Pain is associated with reduced quality of life and functional status in patients with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
    Scand J Pain, 19 (1), 61-72
    DOI 10.1515/sjpain-2018-0095, PubMed 30325738
21. Strand EB, Nacul L, Mengshoel AM, Helland IB, Grabowski P, Krumina A, Alegre-Martin J, Efrim-Budisteanu M, Sekulic S, Pheby D, Sakkas GK, Sirbu CA, Authier FJ, European Network on ME/CFS (EUROMENE) (2019)
    Myalgic encephalomyelitis/chronic fatigue Syndrome (ME/CFS): Investigating care practices pointed out to disparities in diagnosis and treatment across European Union
    PLoS One, 14 (12), e0225995
    DOI 10.1371/journal.pone.0225995, PubMed 31805176
22. Sumathipala D, Strømme P, Gilissen C, Corominas J, Frengen E, Misceo D (2019)
    TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
    Pediatr Neurol, 96, 74-75
    DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414
23. Tollisen A, Selvaag AM, Aasland A, Lerdal A, Flatø B (2019)
    Longitudinal Health Status from Early Disease to Adulthood and Associated Prognostic Factors in Juvenile Idiopathic Arthritis
    J Rheumatol, 46 (10), 1335-1344
    DOI 10.3899/jrheum.180948, PubMed 30877211
24. Weisser KH, Diseth TH, Boye B, Faerden A, Ekeberg Ø (2019)
    Examining the organization and quality of the psychiatric consultative service in Norway
    Nord J Psychiatry, 73 (1), 9-15
    DOI 10.1080/08039488.2018.1525426, PubMed 30661436
25. Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M et al. (2019)
    Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
    J Neuromuscul Dis, 6 (2), 241-258
    DOI 10.3233/JND-180376, PubMed 31127727

Publications 2018

1. Batorowicz B, Stadskleiv K, Renner G, Sandberg AD, von Tetzchner S (2018)
   Assessment of aided language comprehension and use in children and adolescents with severe speech and motor impairments
   Augment Altern Commun, 34 (1), 54-67
   DOI 10.1080/07434618.2017.1420689, PubMed 29322822
2. Bugge I, Jensen TK, Nilsen LG, Ekeberg Ø, Dyb G, Diseth TH (2018)
   Psychosocial care for hospitalized young survivors after the terror attack on Utøya Island: A qualitative study of the survivors' experiences
   Injury, 50 (1), 197-204
   DOI 10.1016/j.injury.2018.10.024, PubMed 30366828
3. Deliberato D, Jennische M, Oxley J, Nunes LRDP, Walter CCF, Massaro M, Almeida MA, Stadskleiv K, Basil C, Coronas M, Smith M, von Tetzchner S (2018)
   Vocabulary comprehension and strategies in name construction among children using aided communication
   Augment Altern Commun, 34 (1), 16-29
   DOI 10.1080/07434618.2017.1420691, PubMed 29353508
4. Gardsjord ES, Romm KL, Røssberg JI, Friis S, Barder HE, Evensen J, Haahr U, Ten Velden Hegelstad W, Joa I, Johannessen JO, Langeveld J, Larsen TK, Opjordsmoen S, Rund BR, Simonsen E, Vaglum P, Melle I (2018)
   Depression and functioning are important to subjective quality of life after a first episode psychosis
   Compr Psychiatry, 86, 107-114
   DOI 10.1016/j.comppsych.2018.07.014, PubMed 30114656
5. Gincota Bufteac E, Andersen GL, Torstein V, Jahnsen R (2018)
   Cerebral palsy in Moldova: subtypes, severity and associated impairments
   BMC Pediatr, 18 (1), 332
   DOI 10.1186/s12887-018-1305-6, PubMed 30340478
6. Gjems S, Helgeland H (2018)
   A young boy with unexplained headache and paralysis
   Tidsskr. Nor. Laegeforen., 138 (13), 1260-1262
7. Gjems S, Helgeland H (2018)
   A young boy with unexplained headache and paralysis
   Tidsskr Nor Laegeforen, 138 (13)
   DOI 10.4045/tidsskr.18.0081, PubMed 30180496
8. Hasselberg NE, Berge KE, Rasmussen M, Früh A, Ørstavik K, Haugaa KH (2018)
   [Cardiomyopathy in hereditary muscular dystrophies]
   Tidsskr Nor Laegeforen, 138 (1)
   DOI 10.4045/tidsskr.16.0683, PubMed 29313627
9. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA (2018)
   Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications
   Epilepsia, 59 (8), 1595-1602
   DOI 10.1111/epi.14459, PubMed 29920680
10. Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA (2018)
    Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
    J Inherit Metab Dis, 41 (1), 153
    DOI 10.1007/s10545-017-0092-9, PubMed 28952135
11. Jensen SM, Arntzen KA, Orstavik K, Rasmussen M, Bindoff LA (2018)
    Common promises for patients with neuromuscular diseases
    Tidsskr. Nor. Laegeforen., 138 (15), 1408-1409
12. Klevberg GL, Elvrum AG, Zucknick M, Elkjaer S, Østensjø S, Krumlinde-Sundholm L, Kjeken I, Jahnsen R (2018)
    Development of bimanual performance in young children with cerebral palsy
    Dev Med Child Neurol, 60 (5), 490-497
    DOI 10.1111/dmcn.13680, PubMed 29392717
13. Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C (2018)
    Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
    Nat Genet, 50 (3), 344-348
    DOI 10.1038/s41588-018-0063-6, PubMed 29483653
14. Larsen K, Aasland A, Diseth TH (2018)
    Brief Report: Agreement Between Parents and Day-Care Professionals on Early Symptoms Associated with Autism Spectrum Disorders
    J Autism Dev Disord, 48 (4), 1063-1068
    DOI 10.1007/s10803-017-3355-2, PubMed 29086212
15. Larsen K, Aasland A, Diseth TH (2018)
    Identification of Symptoms of Autism Spectrum Disorders in the Second Year of Life at Day-Care Centres by Day-Care Staff: Step One in the Development of a Short Observation List
    J Autism Dev Disord, 48 (7), 2267-2277
    DOI 10.1007/s10803-018-3489-x, PubMed 29423606
16. Murray J, Sandberg AD, Smith MM, Deliberato D, Stadskleiv K, von Tetzchner S (2018)
    Communicating the unknown: descriptions of pictured scenes and events presented on video by children and adolescents using aided communication and their peers using natural speech
    Augment Altern Commun, 34 (1), 30-39
    DOI 10.1080/07434618.2017.1420690, PubMed 29373919
17. Myrhaug HT, Odgaard-Jensen J, Jahnsen R (2018)
    The long-term effects of conductive education courses in young children with cerebral palsy: a randomized controlled trial
    Dev Neurorehabil, 22 (2), 111-119
    DOI 10.1080/17518423.2018.1460771, PubMed 29648488
18. Oyen AS, Ulleberg B, Sangar P, Wallace S, Holmstrom H (2018)
    Early efforts are important in behavioural difficulties in children Reply
    Tidsskr. Nor. Laegeforen., 138 (1), 16
19. Røe C, Kirkevold M, Andelic N, Soberg HL, Sveen U, Bautz-Holter E, Jahnsen R, van Walsem MR, Kildal Bragstad L, Gabrielsen Hjelle E, Klevberg G, Oretorp P, Habberstad A, Hagfors J, Væhle R, Engen G, Gutenbrunner C (2018)
    The challenges of describing rehabilitation services: A discussion paper
    J Rehabil Med, 50 (2), 151-158
    DOI 10.2340/16501977-2299, PubMed 29260837
20. Saetrang T, Bjørk IT, Capjon H, Rasmussen M (2018)
    Parent-child communication and timing of interventions are challenges in the Duchenne muscular dystrophy care
    Acta Paediatr, 108 (3), 535-540
    DOI 10.1111/apa.14537, PubMed 30118557
21. Skjeldal OH (2018)
    When no cause can be found
    Tidsskr Nor Laegeforen, 138 (13)
    DOI 10.4045/tidsskr.18.0598, PubMed 30180483
22. Skaaret I, Steen H, Terjesen T, Holm I (2018)
    Impact of ankle-foot orthoses on gait 1 year after lower limb surgery in children with bilateral cerebral palsy
    Prosthet Orthot Int, 43 (1), 12-20
    DOI 10.1177/0309364618791615, PubMed 30084755
23. Stadskleiv K, Batorowicz B, Massaro M, van Balkom H, von Tetzchner S (2018)
    Visual-spatial cognition in children using aided communication
    Augment Altern Commun, 34 (1), 68-78
    DOI 10.1080/07434618.2017.1422017, PubMed 29353517
24. Strømme P, Groeneweg S, Lima de Souza EC, Zevenbergen C, Torgersbråten A, Holmgren A, Gurcan E, Meima ME, Peeters RP, Visser WE, Høneren Johansson L, Babovic A, Zetterberg H, Heuer H, Frengen E, Misceo D, Visser TJ (2018)
    Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
    Thyroid, 28 (11), 1406-1415
    DOI 10.1089/thy.2018.0595, PubMed 30296914
25. Thorsteinsdottir H, Diseth TH, Lie A, Tangeraas T, Matthews I, Åsberg A, Bjerre A (2018)
    Small effort, high impact: Focus on physical activity improves oxygen uptake (VO_2peak ), quality of life, and mental health after pediatric renal transplantation
    Pediatr Transplant, 22 (6), e13242
    DOI 10.1111/petr.13242, PubMed 29921004
26. Tollisen A, Selvaag AM, Aulie HA, Lilleby V, Aasland A, Lerdal A, Flatø B (2018)
    Physical Functioning, Pain, and Health-Related Quality of Life in Adults With Juvenile Idiopathic Arthritis: A Longitudinal 30-Year Followup Study
    Arthritis Care Res (Hoboken), 70 (5), 741-749
    DOI 10.1002/acr.23327, PubMed 28732134
27. von Tetzchner S, Launonen K, Batorowicz B, Nunes LRDP, Walter CCF, Oxley J, Massaro M, Stadskleiv K, Yang CK, Deliberato D (2018)
    Communication aid provision and use among children and adolescents developing aided communication: an international survey
    Augment Altern Commun, 34 (1), 79-91
    DOI 10.1080/07434618.2017.1422019, PubMed 29355036
28. Willis C, Nyquist A, Jahnsen R, Elliott C, Ullenhag A (2018)
    Enabling physical activity participation for children and youth with disabilities following a goal-directed, family-centred intervention
    Res Dev Disabil, 77, 30-39
    DOI 10.1016/j.ridd.2018.03.010, PubMed 29635224
29. Willis CE, Reid S, Elliott C, Rosenberg M, Nyquist A, Jahnsen R, Girdler S (2018)
    A realist evaluation of a physical activity participation intervention for children and youth with disabilities: what works, for whom, in what circumstances, and how?
    BMC Pediatr, 18 (1), 113
    DOI 10.1186/s12887-018-1089-8, PubMed 29544462
30. Zahl SM, Egge A, Helseth E, Skarbø AB, Wester K (2018)
    Quality of life and physician-reported developmental, cognitive, and social problems in children with benign external hydrocephalus-long-term follow-up
    Childs Nerv Syst, 35 (2), 245-250
    DOI 10.1007/s00381-018-4016-2, PubMed 30523438
31. Ørstavik K, Rasmussen M, Arntzen KA, Bindoff LA (2018)
    [Not Available]
    Tidsskr Nor Laegeforen, 138 (14)
    DOI 10.4045/tidsskr.18.0580, PubMed 30234257
32. Øyen AS, Ulleberg B, Sangar P, Wallace S, Holmstrøm H (2018)
    [Not Available]
    Tidsskr Nor Laegeforen, 138 (1)
    DOI 10.4045/tidsskr.17.1091, PubMed 29313605

Publications 2017

1. Aden P, Annexstad EJ, Lien E, Tajsic JM, Mjellem N, Rasmussen M (2017)
   Muscle disorders with onset in childhood
   Tidsskr. Nor. Laegeforen., 137 (2), 108-111
2. Baksjøberget PE, Nyquist A, Moser T, Jahnsen R (2017)
   Having Fun and Staying Active! Children with Disabilities and Participation in Physical Activity: A Follow-Up Study
   Phys Occup Ther Pediatr, 37 (4), 347-358
   DOI 10.1080/01942638.2017.1281369, PubMed 28300457
3. Brunvand L, Heier M, Brunborg C, Hanssen KF, Fugelseth D, Stensaeth KH, Dahl-Jørgensen K, Margeirsdottir HD (2017)
   Advanced glycation end products in children with type 1 diabetes and early reduced diastolic heart function
   BMC Cardiovasc Disord, 17 (1), 133
   DOI 10.1186/s12872-017-0551-0, PubMed 28545398
4. Brændvik SM, Roeleveld K, Andersen GL, Raftemo AE, Ramstad K, Majkic-Tajsic J, Lamvik T, Lund B, Follestad T, Vik T (2017)
   The WE-Study: does botulinum toxin A make walking easier in children with cerebral palsy?: Study protocol for a randomized controlled trial
   Trials, 18 (1), 58
   DOI 10.1186/s13063-016-1772-8, PubMed 28166806
5. Bugge I, Dyb G, Stensland SØ, Ekeberg Ø, Wentzel-Larsen T, Diseth TH (2017)
   Physical Injury and Somatic Complaints: The Mediating Role of Posttraumatic Stress Symptoms in Young Survivors of a Terror Attack
   J Trauma Stress, 30 (3), 229-236
   DOI 10.1002/jts.22191, PubMed 28556275
6. Diseth TH, Emblem R (2017)
   Long-term psychosocial consequences of surgical congenital malformations
   Semin Pediatr Surg, 26 (5), 286-294
   DOI 10.1053/j.sempedsurg.2017.09.009, PubMed 29110824
7. Fletcher-Watson S, Larsen K, Salomone E, Members of the COST ESSEA Working Groups (2017)
   What do parents of children with autism expect from participation in research? A community survey about early autism studies
   Autism, 23 (1), 175-186
   DOI 10.1177/1362361317728436, PubMed 29126359
8. Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM et al. (2017)
   YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
   Am J Hum Genet, 100 (6), 907-925
   DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647
9. Gardsjord ES, Romm KL, Røssberg JI, Friis S, Barder HE, Evensen J, Haahr U, Ten Velden Hegelstad W, Joa I, Johannessen JO, Langeveld J, Larsen TK, Opjordsmoen S, Rund BR, Simonsen E, Vaglum P, McGlashan T, Melle I (2017)
   Is going into stable symptomatic remission associated with a more positive development of life satisfaction? A 10-year follow-up study of first episode psychosis
   Schizophr Res, 193, 364-369
   DOI 10.1016/j.schres.2017.07.006, PubMed 28701275
10. Gursli S, Sandvik L, Bakkeheim E, Skrede B, Stuge B (2017)
    Evaluation of a novel technique in airway clearance therapy - Specific Cough Technique (SCT) in cystic fibrosis: A pilot study of a series of N-of-1 randomised controlled trials
    SAGE Open Med, 5, 2050312117697505
    DOI 10.1177/2050312117697505, PubMed 28540046
11. Helgeland H, Førde S (2017)
    [Children and adolescents with unexplained physical symptoms]
    Tidsskr Nor Laegeforen, 137 (6), 433-434
    DOI 10.4045/tidsskr.17.0134, PubMed 28332793
12. Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA (2017)
    The presence of anaemia negatively influences survival in patients with POLG disease
    J Inherit Metab Dis, 40 (6), 861-866
    DOI 10.1007/s10545-017-0084-9, PubMed 28865037
13. Lindheim MØ, Helgeland H (2017)
    Hypnosis Training and Education: Experiences with a Norwegian One-Year Education Course in Clinical Hypnosis for Children and Adolescents
    Am J Clin Hypn, 59 (3), 282-291
    DOI 10.1080/00029157.2016.1230728, PubMed 27982780
14. Munkhaugen EK, Gjevik E, Pripp AH, Sponheim E, Diseth TH (2017)
    School refusal behaviour: Are children and adolescents with autism spectrum disorder at a higher risk?
    Res. Autism Spectr. Disord., 41-42, 31-38
    DOI 10.1016/j.rasd.2017.07.001
15. Munkhaugen EK, Torske T, Gjevik E, Nærland T, Pripp AH, Diseth TH (2017)
    Individual characteristics of students with autism spectrum disorders and school refusal behavior
    Autism, 23 (2), 413-423
    DOI 10.1177/1362361317748619, PubMed 29241346
16. Myrhaug HT, Odgaard-Jensen J, Østensjø S, Vøllestad NK, Jahnsen R (2017)
    Effects of a conductive education course in young children with cerebral palsy:A randomized controlled trial
    Dev Neurorehabil, 21 (8), 481-489
    DOI 10.1080/17518423.2017.1360961, PubMed 28816582
17. Oyen AS, Ulleberg B, Sangar P, Wallace S, Holmstrom H (2017)
    A boy with heart failure and behavioral disorders
    Tidsskr. Nor. Laegeforen., 137 (20), 1611-1613
18. Pettersson K, Bjerke KM, Jahnsen R, Öhrvik J, Rodby-Bousquet E (2017)
    Psychometric evaluation of the Scandinavian version of the caregiver priorities and child health index of life with disabilities
    Disabil Rehabil, 41 (2), 212-218
    DOI 10.1080/09638288.2017.1378930, PubMed 28927310
19. Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A et al. (2017)
    GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
    J Med Genet, 54 (7), 460-470
    DOI 10.1136/jmedgenet-2016-104509, PubMed 28377535
20. Popperud TH, Boldingh MI, Rasmussen M, Kerty E (2017)
    Juvenile myasthenia gravis in Norway: Clinical characteristics, treatment, and long-term outcome in a nationwide population-based cohort
    Eur J Paediatr Neurol, 21 (5), 707-714
    DOI 10.1016/j.ejpn.2017.04.003, PubMed 28457757
21. Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA et al. (2017)
    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
    Neuropediatrics, 48 (3), 166-184
    DOI 10.1055/s-0037-1601449, PubMed 28561207
22. Rolfsjord LB, Bakkeheim E, Berents TL, Alm J, Skjerven HO, Carlsen KH, Mowinckel P, Sjöbeck AC, Carlsen KCL (2017)
    Morning Salivary Cortisol in Young Children: Reference Values and the Effects of Age, Sex, and Acute Bronchiolitis
    J Pediatr, 184, 193-198.e3
    DOI 10.1016/j.jpeds.2017.01.064, PubMed 28284475
23. Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR (2017)
    Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
    Am J Med Genet A, 173 (5), 1447-1449
    DOI 10.1002/ajmg.a.38177, PubMed 28371307
24. Skranes JH, Løhaugen G, Schumacher EM, Osredkar D, Server A, Cowan FM, Stiris T, Fugelseth D, Thoresen M (2017)
    Amplitude-Integrated Electroencephalography Improves the Identification of Infants with Encephalopathy for Therapeutic Hypothermia and Predicts Neurodevelopmental Outcomes at 2 Years of Age
    J Pediatr, 187, 34-42
    DOI 10.1016/j.jpeds.2017.04.041, PubMed 28549636
25. Stadskleiv K (2017)
    Experiences from a support group for families of preschool children in the expressive AAC user group
    Augment Altern Commun, 33 (1), 3-13
    DOI 10.1080/07434618.2016.1276960, PubMed 28121175
26. Stadskleiv K, Jahnsen R, Andersen GL, von Tetzchner S (2017)
    Neuropsychological profiles of children with cerebral palsy
    Dev Neurorehabil, 21 (2), 108-120
    DOI 10.1080/17518423.2017.1282054, PubMed 28632466
27. Stadskleiv K, Jahnsen R, Andersen GL, von Tetzchner S (2017)
    Executive Functioning in Children Aged 6-18 Years with Cerebral Palsy
    J. Dev. Phys. Disabil., 29 (4), 663-681
    DOI 10.1007/s10882-017-9549-x
28. Tveten KM, Arnevik K, Jahnsen R (2017)
    Goal-directed physical activities in group rehabilitation and impact on health-related quality of life and participation among young adults with physical disabilities - a qualitative study
    Eur. J. Physiother., 19 (3), 131-136
    DOI 10.1080/21679169.2017.1304573
29. Øyen AS, Ulleberg B, Sangar P, Wallace S, Holmstrøm H (2017)
    [A boy with heart defects and behavioral problems]
    Tidsskr Nor Laegeforen, 137 (20)
    DOI 10.4045/tidsskr.17.0198, PubMed 29094549

Publications 2016

1. Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
   Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
   Hum Mutat, 37 (4), 359-63
   DOI 10.1002/humu.22960, PubMed 26820108
2. Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
   Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
   Hum Mutat, 37 (7), 711
   DOI 10.1002/humu.22997, PubMed 27300082
3. Fletcher-Watson S, Apicella F, Auyeung B, Beranova S, Bonnet-Brilhault F, Canal-Bedia R, Charman T, Chericoni N, Conceição IC, Davies K, Farroni T, Gomot M, Jones E, Kaale A, Kapica K, Kawa R, Kylliäinen A, Larsen K, Lefort-Besnard J, Malvy J, Manso de Dios S, Markovska-Simoska S, Millo I, Miranda N, Pasco G et al. (2016)
   Attitudes of the autism community to early autism research
   Autism, 21 (1), 61-74
   DOI 10.1177/1362361315626577, PubMed 26975669
4. Gardsjord ES, Romm KL, Friis S, Barder HE, Evensen J, Haahr U, ten Velden Hegelstad W, Joa I, Johannessen JO, Langeveld J, Larsen TK, Opjordsmoen S, Rund BR, Simonsen E, Vaglum P, McGlashan T, Melle I, Røssberg JI (2016)
   Subjective quality of life in first-episode psychosis. A ten year follow-up study
   Schizophr Res, 172 (1-3), 23-8
   DOI 10.1016/j.schres.2016.02.034, PubMed 26947210
5. Gjerstad AC, Storrøsten OT, Bakkeheim E, Handeland K, Bangstad HJ (2016)
   A seven-month-old girl with sweaty feet
   Tidsskr Nor Laegeforen, 136 (16), 1366-8
   DOI 10.4045/tidsskr.15.1199, PubMed 27637057
6. Gravdal Kvarme L, Albertini-Früh E, Brekke I, Gardsjord R, Halvorsrud L, Liden H (2016)
   On duty all the time: health and quality of life among immigrant parents caring for a child with complex health needs
   J Clin Nurs, 25 (3-4), 362-71
   DOI 10.1111/jocn.13056, PubMed 26818363
7. Hegelstad WT, Bronnick KS, Barder HE, Evensen JH, Haahr U, Joa I, Johannessen JO, Langeveld J, Larsen TK, Melle I, Opjordsmoen S, Rund BR, Rossberg JI, Simonsen E, Vaglum PW, McGlashan TH, Friis S (2016)
   Preventing Poor Vocational Functioning in Psychosis Through Early Intervention
   Psychiatr Serv, 68 (1), 100-103
   DOI 10.1176/appi.ps.201500451, PubMed 27582238
8. Heuser K, Nakken KO, Sandvig I, Taubøll E (2016)
   [What causes febrile convulsions?]
   Tidsskr Nor Laegeforen, 136 (1), 36-8
   DOI 10.4045/tidsskr.14.1503, PubMed 26757658
9. Hope S, Johannessen CH, Aanonsen NO, Strømme P (2016)
   The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway
   Eur J Neurol, 23 Suppl 1, 36-44
   DOI 10.1111/ene.12884, PubMed 26563096
10. Jahnsen R (2016)
    Pain hurts 2: changes over time in children and young people with cerebral palsy
    Dev Med Child Neurol, 59 (4), 345-346
    DOI 10.1111/dmcn.13365, PubMed 27981575
11. Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ et al. (2016)
    Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
    Neurology, 86 (23), 2171-8
    DOI 10.1212/WNL.0000000000002740, PubMed 27164704
12. Lundman E, Gaup HJ, Bakkeheim E, Olafsdottir EJ, Rootwelt T, Storrøsten OT, Pettersen RD (2016)
    Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years
    J Cyst Fibros, 15 (3), 318-24
    DOI 10.1016/j.jcf.2015.12.017, PubMed 26795017
13. Mikkelsen R, Rødevand LN, Wiig US, Zahl SM, Berntsen T, Skarbø AB, Egge A, Helseth E, Andersson S, Wester K (2016)
    Neurocognitive and psychosocial function in children with benign external hydrocephalus (BEH)-a long-term follow-up study
    Childs Nerv Syst, 33 (1), 91-99
    DOI 10.1007/s00381-016-3267-z, PubMed 27848005
14. Nyquist A, Moser T, Jahnsen R (2016)
    Fitness, Fun and Friends through Participation in Preferred Physical Activities: Achievable for Children with Disabilities?
    Int. J. Disabil. Dev. Educ., 63 (3), 334-356
    DOI 10.1080/1034912X.2015.1122176
15. Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P (2016)
    Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
    Neuromuscul Disord, 26 (9), 570-5
    DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922
16. Pedurupillay CR, Landsend EC, Vigeland MD, Ansar M, Frengen E, Misceo D, Strømme P (2016)
    Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
    Genes (Basel), 7 (8)
    DOI 10.3390/genes7080041, PubMed 27472364
17. Popperud TH, Boldingh MI, Brunborg C, Faiz KW, Heldal AT, Maniaol AH, Müller KI, Rasmussen M, Øymar K, Kerty E (2016)
    Juvenile myasthenia gravis in Norway: A nationwide epidemiological study
    Eur J Paediatr Neurol, 21 (2), 312-317
    DOI 10.1016/j.ejpn.2016.09.001, PubMed 27666466
18. Ramstad K, Jahnsen R, Diseth TH (2016)
    Associations between recurrent musculoskeletal pain and visits to the family doctor (GP) and specialist multi-professional team in 74 Norwegian youth with cerebral palsy
    Child Care Health Dev, 42 (5), 735-41
    DOI 10.1111/cch.12366, PubMed 27283955
19. Ramstad K, Terjesen T (2016)
    Hip pain is more frequent in severe hip displacement: a population-based study of 77 children with cerebral palsy
    J Pediatr Orthop B, 25 (3), 217-21
    DOI 10.1097/BPB.0000000000000282, PubMed 26895291
20. Rolfsjord LB, Skjerven HO, Carlsen KH, Mowinckel P, Bains KE, Bakkeheim E, Lødrup Carlsen KC (2016)
    The severity of acute bronchiolitis in infants was associated with quality of life nine months later
    Acta Paediatr, 105 (7), 834-41
    DOI 10.1111/apa.13396, PubMed 26970427
21. Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D (2016)
    Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
    Genes (Basel), 7 (12)
    DOI 10.3390/genes7120108, PubMed 27916860
22. Stadskleiv K, Jahnsen R, von Tetzchner S (2016)
    Structure of Executive Functioning in Children with Cerebral Palsy: an Investigation of Anderson's Developmental Model
    J. Dev. Phys. Disabil., 28 (5), 665-684
    DOI 10.1007/s10882-016-9500-6
23. Strand EB, Lillestol K, Jason LA, Tveito K, Diep LM, Valla SS, Sunnquist M, Helland IB, Herder I, Dammen T (2016)
    Comparing the DePaul Symptom Questionnaire with physician assessments: a preliminary study
    FATIGUE, 4 (1), 52-62
    DOI 10.1080/21641846.2015.1126026

Publications 2015

1. Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E (2015)
   A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
   Hum Mol Genet, 24 (20), 5845-54
   DOI 10.1093/hmg/ddv305, PubMed 26220973
2. Bugge I, Dyb G, Stensland SØ, Ekeberg Ø, Wentzel-Larsen T, Diseth TH (2015)
   Physical injury and posttraumatic stress reactions. A study of the survivors of the 2011 shooting massacre on Utøya Island, Norway
   J Psychosom Res, 79 (5), 384-90
   DOI 10.1016/j.jpsychores.2015.09.005, PubMed 26526313
3. Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I et al. (2015)
   Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
   J Inherit Metab Dis, 39 (2), 243-52
   DOI 10.1007/s10545-015-9894-9, PubMed 26475597
4. Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C et al. (2015)
   Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
   Am J Med Genet A, 167A (2), 296-312
   DOI 10.1002/ajmg.a.36887, PubMed 25604658
5. Eilertsen ME, Hjemdal O, Le TT, Diseth TH, Reinfjell T (2015)
   Resilience factors play an important role in the mental health of parents when children survive acute lymphoblastic leukaemia
   Acta Paediatr, 105 (1), e30-4
   DOI 10.1111/apa.13232, PubMed 26426347
6. Fjermestad KW, Vatne TM, Gjone H (2015)
   Cognitive behavioral therapy for adolescents with 22q11.2 deletion syndrome
   Adv. Ment. Health Intellet. Disabil., 9 (1), 30-39
   DOI 10.1108/AMHID-05-2014-0017
7. Friis S, Melle I, Johannessen JO, Røssberg JI, Barder HE, Evensen JH, Haahr U, Ten Velden Hegelstad W, Joa I, Langeveld J, Larsen TK, Opjordsmoen S, Rund BR, Simonsen E, Vaglum PW, McGlashan TH (2015)
   Early Predictors of Ten-Year Course in First-Episode Psychosis
   Psychiatr Serv, 67 (4), 438-43
   DOI 10.1176/appi.ps.201400558, PubMed 26567932
8. Heier M, Margeirsdottir HD, Torjesen PA, Seljeflot I, Stensæth KH, Gaarder M, Brunborg C, Hanssen KF, Dahl-Jørgensen K (2015)
   The advanced glycation end product methylglyoxal-derived hydroimidazolone-1 and early signs of atherosclerosis in childhood diabetes
   Diab Vasc Dis Res, 12 (2), 139-45
   DOI 10.1177/1479164114560910, PubMed 25616705
9. Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D (2015)
   Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
   Am J Med Genet A, 167A (3), 657-63
   DOI 10.1002/ajmg.a.36944, PubMed 25691420
10. Ramstad K, Jahnsen RB, Diseth TH (2015)
    Adolescents with cerebral palsy and their contact with the GP and the habilitative services
    Tidsskr. Nor. Laegeforen., 135 (5), 428-432
11. Ramstad K, Jahnsen RB, Diseth TH (2015)
    [Adolescents with cerebral palsy and their contact with the GP and the habilitative services]
    Tidsskr Nor Laegeforen, 135 (5), 429-33
    DOI 10.4045/tidsskr.14.0434, PubMed 25761027
12. Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E et al. (2015)
    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
    Elife, 4, e06602
    DOI 10.7554/eLife.06602, PubMed 26026149
13. Schumacher EM, Stiris TA, Larsson PG (2015)
    Effective connectivity in long-term EEG monitoring in preterm infants
    Clin Neurophysiol, 126 (12), 2261-8
    DOI 10.1016/j.clinph.2015.01.017, PubMed 25735477
14. Terjesen T, Lofterød B, Skaaret I (2015)
    Gait improvement surgery in ambulatory children with diplegic cerebral palsy
    Acta Orthop, 86 (4), 511-7
    DOI 10.3109/17453674.2015.1011927, PubMed 25637100
15. Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N et al. (2015)
    Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
    Brain, 139 (Pt 3), 674-91
    DOI 10.1093/brain/awv352, PubMed 26700687
16. Ørstavik K, Wallace SC, Torbergsen T, Abicht A, Erik Tangsrud S, Kerty E, Rasmussen M (2015)
    A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia
    J Neuromuscul Dis, 2 (2), 181-184
    DOI 10.3233/JND-150069, PubMed 27858731

Publications 2014

1. Annexstad EJ, Lund-Petersen I, Rasmussen M (2014)
   Duchenne muscular dystrophy
   Tidsskr Nor Laegeforen, 134 (14), 1361-4
   DOI 10.4045/tidsskr.13.0836, PubMed 25096430
2. Hallböök T, Sjölander A, Åmark P, Miranda M, Bjurulf B, Dahlin M (2014)
   Effectiveness of the ketogenic diet used to treat resistant childhood epilepsy in Scandinavia
   Eur J Paediatr Neurol, 19 (1), 29-36
   DOI 10.1016/j.ejpn.2014.09.005, PubMed 25457511
3. Høiness PR, Capjon H, Lofterød B (2014)
   Pain and rehabilitation problems after single-event multilevel surgery including bony foot surgery in cerebral palsy. A series of 7 children
   Acta Orthop, 85 (6), 646-51
   DOI 10.3109/17453674.2014.960141, PubMed 25191930
4. Kierulf Strømme K, Strømme P, Bjertness E, Lien L (2014)
   Intrauterine growth restriction - a population-based study of the association with academic performance and psychiatric health
   Acta Paediatr, 103 (8), 886-91
   DOI 10.1111/apa.12657, PubMed 24724871
5. Misund AR, Nerdrum P, Diseth TH (2014)
   Mental health in women experiencing preterm birth
   BMC Pregnancy Childbirth, 14, 263
   DOI 10.1186/1471-2393-14-263, PubMed 25107462
6. Myrhaug HT, Jahnsen R, Østensjø S (2014)
   Family-centred practices in the provision of interventions and services in primary health care: A survey of parents of preschool children with cerebral palsy
   J Child Health Care, 20 (1), 109-19
   DOI 10.1177/1367493514551312, PubMed 25336236
7. Ramstad K, Loge JH, Jahnsen R, Diseth TH (2014)
   Self-reported mental health in youth with cerebral palsy and associations to recurrent musculoskeletal pain
   Disabil Rehabil, 37 (2), 144-50
   DOI 10.3109/09638288.2014.913703, PubMed 24786760
8. Rasmussen M, Scheie D, Breivik N, Mork M, Lindal S (2014)
   Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I
   Acta Paediatr, 103 (5), 553-8
   DOI 10.1111/apa.12561, PubMed 24447024
9. Rolfsjord LB, Skjerven HO, Bakkeheim E, Carlsen KH, Hunderi JO, Kvenshagen BK, Mowinckel P, Lødrup Carlsen KC (2014)
   Children hospitalised with bronchiolitis in the first year of life have a lower quality of life nine months later
   Acta Paediatr, 104 (1), 53-8
   DOI 10.1111/apa.12792, PubMed 25169812
10. Sandvig I, Barlinn J, Nedregaard B, Skjeldal OH (2014)
    Multiple sclerosis in children and adolescents. An important differential diagnosis of acute neurological disease
    Eur J Paediatr Neurol, 19 (2), 211-7
    DOI 10.1016/j.ejpn.2014.12.004, PubMed 25596063
11. Stadskleiv K, von Tetzchner S, Batorowicz B, van Balkom H, Dahlgren-Sandberg A, Renner G (2014)
    Investigating executive functions in children with severe speech and movement disorders using structured tasks
    Front Psychol, 5, 992
    DOI 10.3389/fpsyg.2014.00992, PubMed 25249999
12. Tinderholt Myrhaug H, Østensjø S, Larun L, Odgaard-Jensen J, Jahnsen R (2014)
    Intensive training of motor function and functional skills among young children with cerebral palsy: a systematic review and meta-analysis
    BMC Pediatr, 14, 292
    DOI 10.1186/s12887-014-0292-5, PubMed 25475608
13. Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA (2014)
    A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability
    Hum Mol Genet, 23 (23), 6356-65
    DOI 10.1093/hmg/ddu357, PubMed 25008109
14. Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G, 4H Research Group (2014)
    Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
    Neurology, 83 (21), 1898-905
    DOI 10.1212/WNL.0000000000001002, PubMed 25339210

Publications 2013

1. Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E (2013)
   Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
   Orphanet J Rare Dis, 8, 3
   DOI 10.1186/1750-1172-8-3, PubMed 23294540
2. Dyb G, Jensen TK, Nygaard E, Ekeberg O, Diseth TH, Wentzel-Larsen T, Thoresen S (2013)
   Post-traumatic stress reactions in survivors of the 2011 massacre on Utøya Island, Norway
   Br J Psychiatry, 204, 361-7
   DOI 10.1192/bjp.bp.113.133157, PubMed 24115344
3. Holtebekk ME, Berntsen S, Rasmussen M, Jahnsen RB (2013)
   Physical activity and motor function in children and adolescents with neuromuscular disorders
   Pediatr Phys Ther, 25 (4), 415-20
   DOI 10.1097/PEP.0b013e3182a635f0, PubMed 23995671
4. Isaksen J, Diseth TH, Schjølberg S, Skjeldal OH (2013)
   Autism spectrum disorders--are they really epidemic?
   Eur J Paediatr Neurol, 17 (4), 327-33
   DOI 10.1016/j.ejpn.2013.03.003, PubMed 23602439
5. Misund AR, Nerdrum P, Bråten S, Pripp AH, Diseth TH (2013)
   Long-term risk of mental health problems in women experiencing preterm birth: a longitudinal study of 29 mothers
   Ann Gen Psychiatry, 12 (1), 33
   DOI 10.1186/1744-859X-12-33, PubMed 24176131
6. Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N et al. (2013)
   X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
   Hum Genet, 133 (5), 625-38
   DOI 10.1007/s00439-013-1403-3, PubMed 24326587
7. Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B et al. (2013)
   Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
   Lancet Neurol, 12 (12), 1159-69
   DOI 10.1016/S1474-4422(13)70258-8, PubMed 24183309
8. von Tetzchner S, Verdel M, Barstad BG, Gravås EM, Jahnsen R, Krabbe S, Ramstad K, Schiørbeck H, Skjeldal OH, Tranheim RS, Bang B, Jensen B, Jensen H, Kildemoes L, Mottlau J, Rasmussen KV, Ytting H (2013)
   The effect of interventions based on the programs of The Institutes for the Achievement of Human Potential and Family Hope Center
   Dev Neurorehabil, 16 (4), 217-29
   DOI 10.3109/17518423.2012.739211, PubMed 23834196
9. Wyller VB, Helland IB (2013)
   Relationship between autonomic cardiovascular control, case definition, clinical symptoms, and functional disability in adolescent chronic fatigue syndrome: an exploratory study
   Biopsychosoc Med, 7 (1), 5
   DOI 10.1186/1751-0759-7-5, PubMed 23388153

Publications 2012

1. Almaas R, Hankø E, Mollnes TE, Rootwelt T (2012)
   Dexamethasone reduces bilirubin-induced toxicity and IL-8 and MCP-1 release in human NT2-N neurons
   Brain Res, 1458, 12-7
   DOI 10.1016/j.brainres.2012.04.007, PubMed 22546346
2. Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E (2012)
   A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
   Eur J Med Genet, 55 (12), 695-9
   DOI 10.1016/j.ejmg.2012.08.002, PubMed 22986108
3. Høyer E, Jahnsen R, Stanghelle JK, Strand LI (2012)
   Body weight supported treadmill training versus traditional training in patients dependent on walking assistance after stroke: a randomized controlled trial
   Disabil Rehabil, 34 (3), 210-9
   DOI 10.3109/09638288.2011.593681, PubMed 21954995
4. Isaksen J, Bryn V, Diseth TH, Heiberg A, Schjølberg S, Skjeldal OH (2012)
   Children with autism spectrum disorders - the importance of medical investigations
   Eur J Paediatr Neurol, 17 (1), 68-76
   DOI 10.1016/j.ejpn.2012.08.004, PubMed 22954514
5. Isaksen J, Diseth TH, Schjølberg S, Skjeldal OH (2012)
   Observed prevalence of autism spectrum disorders in two Norwegian counties
   Eur J Paediatr Neurol, 16 (6), 592-8
   DOI 10.1016/j.ejpn.2012.01.014, PubMed 22342070
6. Kolsgaard ML, Joner G, Brunborg C, Anderssen SA, Tonstad S, Andersen LF (2012)
   Correction: "Reduction in BMI z-score and improvement in cardiometabolic risk factors in obese children and adolescents. The Oslo adiposity intervention study - a hospital/public health nurse combined treatment."
   BMC Pediatr, 12, 77
   DOI 10.1186/1471-2431-12-77, PubMed 22709339
7. Maanum G, Jahnsen R, Stanghelle JK, Sandvik L, Larsen KL, Keller A (2012)
   Face and construct validity of the Gait Deviation Index in adults with spastic cerebral palsy
   J Rehabil Med, 44 (3), 272-5
   DOI 10.2340/16501977-0930, PubMed 22214985
8. Nordtorp HL, Nyquist A, Jahnsen R, Moser T, Strand LI (2012)
   Reliability of the Norwegian version of the Children's Assessment of Participation and Enjoyment (CAPE) and Preferences for Activities of Children (PAC)
   Phys Occup Ther Pediatr, 33 (2), 199-212
   DOI 10.3109/01942638.2012.739269, PubMed 23157665
9. Opheim A, McGinley JL, Olsson E, Stanghelle JK, Jahnsen R (2012)
   Walking deterioration and gait analysis in adults with spastic bilateral cerebral palsy
   Gait Posture, 37 (2), 165-71
   DOI 10.1016/j.gaitpost.2012.06.032, PubMed 22818116
10. Ramstad K, Jahnsen R, Skjeldal OH, Diseth TH (2012)
    Mental health, health related quality of life and recurrent musculoskeletal pain in children with cerebral palsy 8-18 years old
    Disabil Rehabil, 34 (19), 1589-95
    DOI 10.3109/09638288.2012.656794, PubMed 22352294
11. Ramstad K, Jahnsen R, Skjeldal OH, Diseth TH (2012)
    Parent-reported participation in children with cerebral palsy: the contribution of recurrent musculoskeletal pain and child mental health problems
    Dev Med Child Neurol, 54 (9), 829-35
    DOI 10.1111/j.1469-8749.2012.04341.x, PubMed 22779735
12. Rasmussen M, Risberg K, Vollo A, Skjeldal OH (2012)
    Neuromuscular disorders in children in South-Eastern Norway
    J. Pediatr. Neurol., 10 (2), 95-100
    DOI 10.3233/JPN-2012-0542
13. Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M et al. (2012)
    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
    Nat Genet, 44 (11), 1243-8
    DOI 10.1038/ng.2414, PubMed 23001123
14. Skorpen J, Helland IB, Tennøe B (2012)
    Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report
    J Med Case Rep, 6, 383
    DOI 10.1186/1752-1947-6-383, PubMed 23146215
15. Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T (2012)
    Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
    Eur J Med Genet, 55 (3), 196-202
    DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853
16. Sulheim D, Hurum H, Helland IB, Thaulow E, Wyller VB (2012)
    Adolescent chronic fatigue syndrome; a follow-up study displays concurrent improvement of circulatory abnormalities and clinical symptoms
    Biopsychosoc Med, 6, 10
    DOI 10.1186/1751-0759-6-10, PubMed 22436201
17. Ullenhag A, Bult MK, Nyquist A, Ketelaar M, Jahnsen R, Krumlinde-Sundholm L, Almqvist L, Granlund M (2012)
    An international comparison of patterns of participation in leisure activities for children with and without disabilities in Sweden, Norway and the Netherlands
    Dev Neurorehabil, 15 (5), 369-85
    DOI 10.3109/17518423.2012.694915, PubMed 23030304

Publications 2011

1. Bakkeheim E, Carlsen KH, Carlsen KCL (2011)
   Paracetamol exposure during breastfeeding and risk of allergic disease
   Acta Paediatr., 100 (7), e3
   DOI 10.1111/j.1651-2227.2011.02340.x
2. Bakkeheim E, Mowinckel P, Carlsen KH, Burney P, Carlsen KC (2011)
   Altered oxidative state in schoolchildren with asthma and allergic rhinitis
   Pediatr Allergy Immunol, 22 (2), 178-85
   DOI 10.1111/j.1399-3038.2010.01092.x, PubMed 20633237
3. Bakkeheim E, Mowinckel P, Carlsen KH, Håland G, Carlsen KC (2011)
   Paracetamol in early infancy: the risk of childhood allergy and asthma
   Acta Paediatr, 100 (1), 90-6
   DOI 10.1111/j.1651-2227.2010.01942.x, PubMed 21143295
4. Diseth TH, Tangeraas T, Reinfjell T, Bjerre A (2011)
   Kidney transplantation in childhood: mental health and quality of life of children and caregivers
   Pediatr Nephrol, 26 (10), 1881-92
   DOI 10.1007/s00467-011-1887-9, PubMed 21520007
5. Hanert E, Schumacher E, Deleersnijder E (2011)
   Front dynamics in fractional-order epidemic models
   J Theor Biol, 279 (1), 9-16
   DOI 10.1016/j.jtbi.2011.03.012, PubMed 21420979
6. Larsen KL, Maanum G, Frøslie KF, Jahnsen R (2011)
   Ambulant adults with spastic cerebral palsy: the validity of lower limb joint angle measurements from sagittal video recordings
   Gait Posture, 35 (2), 186-91
   DOI 10.1016/j.gaitpost.2011.09.004, PubMed 21978791
7. Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E (2011)
   A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
   Am J Med Genet A, 155A (2), 403-8
   DOI 10.1002/ajmg.a.33798, PubMed 21271662
8. Maanum G, Jahnsen R, Stanghelle JK, Sandvik L, Keller A (2011)
   Effects of botulinum toxin A in ambulant adults with spastic cerebral palsy: a randomized double-blind placebo controlled-trial
   J Rehabil Med, 43 (4), 338-47
   DOI 10.2340/16501977-0672, PubMed 21305227
9. Opheim A, Jahnsen R, Olsson E, Stanghelle JK (2011)
   Physical and mental components of health-related quality of life and musculoskeletal pain sites over seven years in adults with spastic cerebral palsy
   J Rehabil Med, 43 (5), 382-7
   DOI 10.2340/16501977-0787, PubMed 21369676
10. Opheim A, Jahnsen R, Olsson E, Stanghelle JK (2011)
    Balance in relation to walking deterioration in adults with spastic bilateral cerebral palsy
    Phys Ther, 92 (2), 279-88
    DOI 10.2522/ptj.20100432, PubMed 22033070
11. Ramstad K, Jahnsen R, Skjeldal OH, Diseth TH (2011)
    Characteristics of recurrent musculoskeletal pain in children with cerebral palsy aged 8 to 18 years
    Dev Med Child Neurol, 53 (11), 1013-8
    DOI 10.1111/j.1469-8749.2011.04070.x, PubMed 22014321
12. Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH (2011)
    Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
    Orphanet J Rare Dis, 6, 58
    DOI 10.1186/1750-1172-6-58, PubMed 21878110
13. Riise R, Brox JI, Sorensen R, Skjeldal OH (2011)
    Spinal deformity and disability in patients with Rett syndrome
    Dev Med Child Neurol, 53 (7), 653-7
    DOI 10.1111/j.1469-8749.2011.03935.x, PubMed 21501153
14. Rincon GA, Vyas D, Zhou J, Fu FH, Oiestad BE, Holm I, Aune AK, Gunderson R, Myklebust G, Engebretsen L, Fosdahl M, Risberg MA (2011)
    "Knee function and prevalence of knee osteoarthritis after anterior cruciate ligament reconstruction: a prospective study with 10 to 15 years of follow-up". Letter to the editor
    Am J Sports Med, 39 (4), NP3; author reply NP3-4
    DOI 10.1177/0363546511403704, PubMed 21460071
15. Schumacher EM, Westvik AS, Larsson PG, Lindemann R, Westvik J, Stiris TA (2011)
    Feasibility of long-term continuous EEG monitoring during the first days of life in preterm infants: an automated quantification of the EEG activity
    Pediatr Res, 69 (5 Pt 1), 413-7
    DOI 10.1203/PDR.0b013e31821267d2, PubMed 21283050
16. Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE (2011)
    A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
    Eur J Hum Genet, 20 (1), 58-63
    DOI 10.1038/ejhg.2011.126, PubMed 21712855

Publications 2010

1. Bakkeheim E, Bergerud U, Schmidt-Melbye AC, Akkok CA, Liestol K, Fugelseth D, Lindemann R (2010)
   Maternal IgG Anti-A and Anti-B Titres Predict Outcome in ABO-Incompatibility in the Neonate EDITORIAL COMMENT
   Obstet. Gynecol. Surv., 65 (3), 160-162
   DOI 10.1097/01.ogx.0000369672.26710.64
2. Bakkeheim E, Mowinckel P, Carlsen KH, Burney P, Lødrup Carlsen KC (2010)
   Reduced basal salivary cortisol in children with asthma and allergic rhinitis
   Acta Paediatr, 99 (11), 1705-11
   DOI 10.1111/j.1651-2227.2009.01598.x, PubMed 19912147
3. Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E (2010)
   A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
   Eur J Med Genet, 53 (4), 221-4
   DOI 10.1016/j.ejmg.2010.03.010, PubMed 20382277
4. Berntsen S, Edvardsen E, Carlsen KH, Kolsgaard ML, Carlsen KC (2010)
   Effects of posture on lung function in obese children
   Clin Respir J, 5 (4), 252-7
   DOI 10.1111/j.1752-699X.2010.00227.x, PubMed 21801326
5. Capjon H, Bjørk IT (2010)
   Ambulant children with spastic cerebral palsy and their parents' perceptions and expectations prior to multilevel surgery
   Dev Neurorehabil, 13 (2), 80-7
   DOI 10.3109/17518420903373511, PubMed 20222768
6. Capjon H, Bjørk IT (2010)
   Rehabilitation after multilevel surgery in ambulant spastic children with cerebral palsy: children and parent experiences
   Dev Neurorehabil, 13 (3), 182-91
   DOI 10.3109/17518421003606151, PubMed 20450468
7. Gjone H (2010)
   Chronic fatigue could be a marker of ADHD in children and adolescents
   Acta Paediatr., 99 (1), 5-6
   DOI 10.1111/j.1651-2227.2009.01622.x
8. Gjone H, Diseth TH, Fausa O, Nøvik TS, Heiberg A (2010)
   Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents
   Clin Genet, 79 (1), 35-43
   DOI 10.1111/j.1399-0004.2010.01534.x, PubMed 21143468
9. Kanavin ØJ, Strømme P (2010)
   [Children with neurodegenerative disease]
   Tidsskr Nor Laegeforen, 130 (15), 1489-92
   DOI 10.4045/tidsskr.10.0020, PubMed 20706313
10. Kooij SJ, Bejerot S, Blackwell A, Caci H, Casas-Brugué M, Carpentier PJ, Edvinsson D, Fayyad J, Foeken K, Fitzgerald M, Gaillac V, Ginsberg Y, Henry C, Krause J, Lensing MB, Manor I, Niederhofer H, Nunes-Filipe C, Ohlmeier MD, Oswald P, Pallanti S, Pehlivanidis A, Ramos-Quiroga JA, Rastam M, Ryffel-Rawak D et al. (2010)
    European consensus statement on diagnosis and treatment of adult ADHD: The European Network Adult ADHD
    BMC Psychiatry, 10, 67
    DOI 10.1186/1471-244X-10-67, PubMed 20815868
11. Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S et al. (2010)
    Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
    Brain, 133 (Pt 3), 655-70
    DOI 10.1093/brain/awp336, PubMed 20129935
12. Maanum G, Jahnsen R, Frøslie KF, Larsen KL, Keller A (2010)
    Walking ability and predictors of performance on the 6-minute walk test in adults with spastic cerebral palsy
    Dev Med Child Neurol, 52 (6), e126-32
    DOI 10.1111/j.1469-8749.2010.03614.x, PubMed 20163429
13. Ostile IL, Johansson I, Aasland A, Flatö B, Möller A (2010)
    Self-rated physical and psychosocial health in a cohort of young adults with juvenile idiopathic arthritis
    Scand J Rheumatol, 39 (4), 318-25
    DOI 10.3109/03009740903505213, PubMed 20476866
14. Ramstad K, Jahnsen R, Lofterod B, Skjeldal OH (2010)
    Continuous intrathecal baclofen therapy in children with cerebral palsy - when does improvement emerge?
    Acta Paediatr, 99 (11), 1661-5
    DOI 10.1111/j.1651-2227.2009.01596.x, PubMed 19912148
15. Stensland E, Lindal S, Jonsrud C, Torbergsen T, Bindoff LA, Rasmussen M, Dahl A, Thyssen F, Nilssen Ø (2010)
    Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I
    Neuromuscul Disord, 21 (1), 41-6
    DOI 10.1016/j.nmd.2010.08.008, PubMed 20961759
16. Størvold GV, Jahnsen R (2010)
    Intensive motor skills training program combining group and individual sessions for children with cerebral palsy
    Pediatr Phys Ther, 22 (2), 150-9
    DOI 10.1097/PEP.0b013e3181dbe379, PubMed 20473097
17. Tønseth KA, Bjark T, Kratz G, Gross A, Kirschner R, Schreiner T, Diseth TH, Haraldsen I (2010)
    [Sex reassignment surgery in transsexuals]
    Tidsskr Nor Laegeforen, 130 (4), 376-9
    DOI 10.4045/tidsskr.08.0670, PubMed 20220861

Publications 2009

1. Bakkeheim E, Bergerud U, Schmidt-Melbye AC, Akkök CA, Liestøl K, Fugelseth D, Lindemann R (2009)
   Maternal IgG anti-A and anti-B titres predict outcome in ABO-incompatibility in the neonate
   Acta Paediatr, 98 (12), 1896-901
   DOI 10.1111/j.1651-2227.2009.01478.x, PubMed 19703120
2. Faugli A, Bjørnland K, Emblem R, Nøvik TS, Diseth TH (2009)
   Mental health and psychosocial functioning in adolescents with esophageal atresia
   J Pediatr Surg, 44 (4), 729-37
   DOI 10.1016/j.jpedsurg.2008.09.027, PubMed 19361632
3. Faugli A, Emblem R, Bjørnland K, Diseth TH (2009)
   Mental health in infants with esophageal atresia
   Infant Ment Health J, 30 (1), 40-56
   DOI 10.1002/imhj.20202, PubMed 28636118
4. Fredriksen PM, Diseth TH, Thaulow E (2009)
   Children and adolescents with congenital heart disease: assessment of behavioural and emotional problems
   Eur Child Adolesc Psychiatry, 18 (5), 292-300
   DOI 10.1007/s00787-008-0730-8, PubMed 19156353
5. Gjone H, Wyller VB (2009)
   Chronic fatigue in adolescence--autonomic dysregulation and mental health: an exploratory study
   Acta Paediatr, 98 (8), 1313-8
   DOI 10.1111/j.1651-2227.2009.01323.x, PubMed 19432823
6. Kollberg G, Darin N, Benan K, Moslemi AR, Lindal S, Tulinius M, Oldfors A, Holme E (2009)
   A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
   Neuromuscul Disord, 19 (2), 147-50
   DOI 10.1016/j.nmd.2008.11.014, PubMed 19138848
7. Kolsgaard ML, Wangensteen T, Brunborg C, Joner G, Holven KB, Halvorsen B, Aukrust P, Tonstad S (2009)
   Elevated visfatin levels in overweight and obese children and adolescents with metabolic syndrome
   Scand J Clin Lab Invest, 69 (8), 858-64
   DOI 10.3109/00365510903348677, PubMed 19929281
8. Lofterød B, Fosdahl MA, Terjesen T (2009)
   Can persistent drop foot after calf muscle lengthening be predicted preoperatively?
   J Foot Ankle Surg, 48 (6), 631-6
   DOI 10.1053/j.jfas.2009.07.001, PubMed 19857817
9. Maeland S, Jahnsen R, Opheim A, Froslie KF, Moe-Nilssen R, Stanghelle JK (2009)
   No effect on gait function of progressive resistance exercise in adults with cerebral palsy - A single-blind randomized controlled trial
   Eur. J. Physiother., 11 (4), 227-233
   DOI 10.3109/14038190902912423
10. Misceo D, Fannemel M, Barøy T, Roberto R, Tvedt B, Jaeger T, Bryn V, Strømme P, Frengen E (2009)
    SCA27 caused by a chromosome translocation: further delineation of the phenotype
    Neurogenetics, 10 (4), 371-4
    DOI 10.1007/s10048-009-0197-x, PubMed 19471976
11. Misceo D, Orstavik KH, Lybaek H, Sandvig I, Ormerod E, Houge G, Frengen E (2009)
    Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother
    Am J Med Genet A, 149A (12), 2877-81
    DOI 10.1002/ajmg.a.33106, PubMed 19938092
12. Ostlie IL, Aasland A, Johansson I, Flatö B, Möller A (2009)
    A longitudinal follow-up study of physical and psychosocial health in young adults with chronic childhood arthritis
    Clin Exp Rheumatol, 27 (6), 1039-46
    PubMed 20149328
13. Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A (2009)
    Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
    Clin Dysmorphol, 18 (2), 78-82
    DOI 10.1097/MCD.0b013e32831e19cd, PubMed 19057379
14. Reinfjell T, Lofstad GE, Nordahl HM, Vikan A, Diseth TH (2009)
    Children in remission from acute lymphoblastic leukaemia: mental health, psychosocial adjustment and parental functioning
    Eur J Cancer Care (Engl), 18 (4), 364-70
    DOI 10.1111/j.1365-2354.2008.00954.x, PubMed 19473372
15. Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC et al. (2009)
    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
    Nat Genet, 41 (7), 829-32
    DOI 10.1038/ng.373, PubMed 19525956
16. Roebroeck ME, Jahnsen R, Carona C, Kent RM, Chamberlain MA (2009)
    Adult outcomes and lifespan issues for people with childhood-onset physical disability
    Dev Med Child Neurol, 51 (8), 670-8
    DOI 10.1111/j.1469-8749.2009.03322.x, PubMed 19627341
17. Roxrud I, Raiborg C, Gilfillan GD, Strømme P, Stenmark H (2009)
    Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease
    Exp Cell Res, 315 (17), 3014-27
    DOI 10.1016/j.yexcr.2009.07.012, PubMed 19619532
18. Skjeldal OH (2009)
    [Determination of disability compensation--a difficult matter]
    Tidsskr Nor Laegeforen, 129 (13), 1354
    DOI 10.4045/tidsskr.09.0557, PubMed 19561675
19. Strømme P, Suren P, Kanavin OJ, Rootwelt T, Woldseth B, Abdelnoor M, Magnus P (2009)
    Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: a cohort study from Oslo, Norway
    Eur J Paediatr Neurol, 14 (2), 138-45
    DOI 10.1016/j.ejpn.2009.03.007, PubMed 19446480
20. Tajsharghi H, Leren TP, Abdul-Hussein S, Tulinius M, Brunvand L, Dahl HM, Oldfors A (2009)
    Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
    J Med Genet, 47 (8), 575-7
    DOI 10.1136/jmg.2009.072710, PubMed 19858127
21. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L et al. (2009)
    Expanding CEP290 mutational spectrum in ciliopathies
    Am J Med Genet A, 149A (10), 2173-80
    DOI 10.1002/ajmg.a.33025, PubMed 19764032
22. Wangensteen T, Kolsgaard ML, Mattingsdal M, Joner G, Tonstad S, Undlien D, Retterstol L (2009)
    Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway
    Exp Clin Endocrinol Diabetes, 117 (6), 266-73
    DOI 10.1055/s-0028-1102942, PubMed 19301229

Publications 2008

1. Bjurulf B, Spetalen S, Erichsen A, Vanier MT, Strøm EH, Strømme P (2008)
   Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue
   Med Sci Monit, 14 (8), CS71-5
   PubMed 18668002
2. Diseth TH (2008)
   [Children born with ambiguous genitalia]
   Tidsskr Nor Laegeforen, 128 (5), 576-80
   PubMed 18311202
3. Faugli A, Emblem R, Veenstra M, Bjørnland K, Diseth TH (2008)
   Does esophageal atresia influence the mother-infant interaction?
   J Pediatr Surg, 43 (10), 1796-801
   DOI 10.1016/j.jpedsurg.2008.04.011, PubMed 18926210
4. Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE et al. (2008)
   SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
   Am J Hum Genet, 82 (4), 1003-10
   DOI 10.1016/j.ajhg.2008.01.013, PubMed 18342287
5. Holm I, Fredriksen P, Fosdahl M, Vøllestad N (2008)
   A normative sample of isotonic and isokinetic muscle strength measurements in children 7 to 12 years of age
   Acta Paediatr, 97 (5), 602-7
   DOI 10.1111/j.1651-2227.2008.00709.x, PubMed 18355391
6. Huynh ME, Vandvik IH, Diseth TH (2008)
   Hypnotherapy in child psychiatry: the state of the art
   Clin Child Psychol Psychiatry, 13 (3), 377-93
   DOI 10.1177/1359104508090601, PubMed 18783121
7. Kolsgaard ML, Andersen LF, Tonstad S, Brunborg C, Wangensteen T, Joner G (2008)
   Ethnic differences in metabolic syndrome among overweight and obese children and adolescents: the Oslo Adiposity Intervention Study
   Acta Paediatr, 97 (11), 1557-63
   DOI 10.1111/j.1651-2227.2008.00955.x, PubMed 18657125
8. Lofstad GE, Reinfjell T, Hestad K, Diseth TH (2008)
   Cognitive outcome in children and adolescents treated for acute lymphoblastic leukaemia with chemotherapy only
   Acta Paediatr, 98 (1), 180-6
   DOI 10.1111/j.1651-2227.2008.01055.x, PubMed 18826490
9. Lofterød B, Terjesen T (2008)
   Results of treatment when orthopaedic surgeons follow gait-analysis recommendations in children with CP
   Dev Med Child Neurol, 50 (7), 503-9
   DOI 10.1111/j.1469-8749.2008.03018.x, PubMed 18611199
10. Lofterød B, Terjesen T (2008)
    Answer to HK Graham
    J Child Orthop, 2 (4), 323
    DOI 10.1007/s11832-008-0117-x, PubMed 19308562
11. Lofterød B, Terjesen T (2008)
    Local and distant effects of isolated calf muscle lengthening in children with cerebral palsy and equinus gait
    J Child Orthop, 2 (1), 55-61
    DOI 10.1007/s11832-007-0074-9, PubMed 19308603
12. Opheim A, Jahnsen R, Olsson E, Stanghelle JK (2008)
    Walking function, pain, and fatigue in adults with cerebral palsy: a 7-year follow-up study
    Dev Med Child Neurol, 51 (5), 381-8
    DOI 10.1111/j.1469-8749.2008.03250.x, PubMed 19207296
13. Reinfjell T, Hjemdal O, Aune T, Vikan A, Diseth TH (2008)
    The Pediatric Quality of Life Inventory (PedsQL) 4.0 as an assessment measure for depressive symptoms: a correlational study with young adolescents
    Nord J Psychiatry, 62 (4), 279-86
    DOI 10.1080/08039480801983950, PubMed 18645737
14. Skjeldal OH, Capjon H, Dahl A, Diseth TH (2008)
    Therapy in a subtropical climate for children with cerebral palsy. Evidence of physical and psychosocial effects?
    Acta Paediatr, 98 (4), 670-4
    DOI 10.1111/j.1651-2227.2008.01114.x, PubMed 19006523
15. Strømme P (2008)
    [Mental retardation]
    Tidsskr Nor Laegeforen, 128 (7), 841; author reply 841
    PubMed 18389036

Publications 2007

1. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S et al. (2007)
   CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
   Am J Hum Genet, 81 (1), 104-13
   DOI 10.1086/519026, PubMed 17564967
2. Dahl HM, Strømme P (2007)
   [Tuberous sclerosis]
   Tidsskr Nor Laegeforen, 127 (7), 853
   PubMed 17435801
3. Duncan ME, Miko T, Howe R, Hansen S, Menzel S, Melsom R, Frommel D, Bezuneh E, Hunegnaw M, Amare G, Wagaye W, Challis A, Aseffa A (2007)
   Growth and development of children of mothers with leprosy and healthy controls
   Ethiop Med J, 45 Suppl 1, 9-23
   PubMed 18710070
4. Holm I, Fredriksen PM, Fosdahl MA, Olstad M, Vøllestad N (2007)
   Impaired motor competence in school-aged children with complex congenital heart disease
   Arch Pediatr Adolesc Med, 161 (10), 945-50
   DOI 10.1001/archpedi.161.10.945, PubMed 17909137
5. Horn MA, Skjeldal OH (2007)
   [Refsum disease--a rare cause of polyneuropathy]
   Tidsskr Nor Laegeforen, 127 (15), 1960
   PubMed 17700744
6. Horn MA, van den Brink DM, Wanders RJ, Duran M, Poll-The BT, Tallaksen CM, Stokke OH, Moser H, Skjeldal OH (2007)
   Phenotype of adult Refsum disease due to a defect in peroxin 7
   Neurology, 68 (9), 698-700
   DOI 10.1212/01.wnl.0000255960.01644.39, PubMed 17325280
7. Kanavin OJ, Woldseth B, Jellum E, Tvedt B, Andresen BS, Stromme P (2007)
   2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
   J Med Case Rep, 1, 98
   DOI 10.1186/1752-1947-1-98, PubMed 17883863
8. Lofterød B, Terjesen T, Skaaret I, Huse AB, Jahnsen R (2007)
   Preoperative gait analysis has a substantial effect on orthopedic decision making in children with cerebral palsy: comparison between clinical evaluation and gait analysis in 60 patients
   Acta Orthop, 78 (1), 74-80
   DOI 10.1080/17453670610013448, PubMed 17453395
9. Reinfjell T, Lofstad GE, Veenstra M, Vikan A, Diseth TH (2007)
   Health-related quality of life and intellectual functioning in children in remission from acute lymphoblastic leukaemia
   Acta Paediatr, 96 (9), 1280-5
   DOI 10.1111/j.1651-2227.2007.00383.x, PubMed 17590194
10. Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE et al. (2007)
    Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Am J Hum Genet, 81 (4), 713-25
    DOI 10.1086/521373, PubMed 17846997
11. Stromme P, Kanavin OJ, Abdelnoor M, Woldseth B, Rootwelt T, Diderichsen J, Bjurulf B, Sommer F, Magnus P (2007)
    Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study
    BMC Pediatr, 7, 25
    DOI 10.1186/1471-2431-7-25, PubMed 17597517
12. Strømme P, Magnus P, Kanavin ØJ, Rootwelt T, Woldseth B, Abdelnoor M (2007)
    Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study
    Acta Paediatr, 97 (1), 35-40
    DOI 10.1111/j.1651-2227.2007.00579.x, PubMed 18076719
13. Wagner K, Risnes I, Berntsen T, Skarbø AB, Ramberg B, Vandvik IH, Rasmussen M, Nome T, Olsen KB, Svennevig JL (2007)
    Clinical and psychosocial follow-up study of children treated with extracorporeal membrane oxygenation
    Ann Thorac Surg, 84 (4), 1349-55
    DOI 10.1016/j.athoracsur.2007.05.019, PubMed 17888996
14. Ørstavik KH, Knudsen GP, Nordgarden H, Ormerod E, Strømme P, Lazarou LP, Rosser LG, Prescott T, Houge G (2007)
    Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
    Am J Med Genet A, 143A (13), 1510-3
    DOI 10.1002/ajmg.a.31797, PubMed 17568423

Publications 2006

1. Diseth TH (2006)
   Dissociation following traumatic medical treatment procedures in childhood: a longitudinal follow-up
   Dev Psychopathol, 18 (1), 233-51
   DOI 10.1017/S0954579406060135, PubMed 16478561
2. Hagemo PS, Skarbø AB, Rasmussen M, Fredriksen PM, Schage S (2006)
   An extensive long term follow-up of a cohort of patients with hypoplasia of the left heart
   Cardiol Young, 17 (1), 51-5
   DOI 10.1017/S1047951106001284, PubMed 17184572
3. Henriksen C, Helland IB, Rønnestad A, Grønn M, Iversen PO, Drevon CA (2006)
   Fat-soluble vitamins in breast-fed preterm and term infants
   Eur J Clin Nutr, 60 (6), 756-62
   DOI 10.1038/sj.ejcn.1602379, PubMed 16452918
4. Jacobs CM, Aden P, Mathisen GH, Khuong E, Gaarder M, Løberg EM, Lømo J, Maehlen J, Paulsen RE (2006)
   Chicken cerebellar granule neurons rapidly develop excitotoxicity in culture
   J Neurosci Methods, 156 (1-2), 129-35
   DOI 10.1016/j.jneumeth.2006.02.012, PubMed 16564575
5. Jahnsen R, Aamodt G, Rosenbaum P (2006)
   Gross Motor Function Classification System used in adults with cerebral palsy: agreement of self-reported versus professional rating
   Dev Med Child Neurol, 48 (9), 734-8
   DOI 10.1017/S0012162206001575, PubMed 16904019
6. Kanavin ØJ, Haakonsen M, Server A, Bajwa TJ, van der Knaap MS, Strømme P (2006)
   Microphthalmia and brain atrophy: a novel neurodegenerative disease
   Ann Neurol, 59 (4), 719-23
   DOI 10.1002/ana.20827, PubMed 16566018
7. Kleppa L, Kanavin ØJ, Klungland A, Strømme P (2006)
   A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
   Neuroscience, 145 (4), 1397-406
   DOI 10.1016/j.neuroscience.2006.09.025, PubMed 17084038
8. Loewy J, Hallan C, Friedman E, Martinez C (2006)
   Sleep/sedation in children undergoing EEG testing: a comparison of chloral hydrate and music therapy
   Am J Electroneurodiagnostic Technol, 46 (4), 343-55
   PubMed 17285817
9. Lofterød B, Jahnsen R, Terjesen T (2006)
   [Cerebral palsy in children--motor function and new treatment strategies]
   Tidsskr Nor Laegeforen, 126 (20), 2648-51
   PubMed 17057763
10. Ramstad K, Karstensen AB, Risberg K, Bergsaker DK, Sommer FF (2006)
    [Experiences with botulinum toxin injections against spasticity in children]
    Tidsskr Nor Laegeforen, 126 (4), 450-2
    PubMed 16477283
11. Reichelt KL, Skjeldal O (2006)
    IgA antibodies in Rett syndrome
    Autism, 10 (2), 189-97
    DOI 10.1177/1362361306062024, PubMed 16613867
12. Reinfjell T, Diseth TH, Veenstra M, Vikan A (2006)
    Measuring health-related quality of life in young adolescents: reliability and validity in the Norwegian version of the Pediatric Quality of Life Inventory 4.0 (PedsQL) generic core scales
    Health Qual Life Outcomes, 4, 61
    DOI 10.1186/1477-7525-4-61, PubMed 16972987
13. Sandvig I, Tennøe B, Eriksson AS (2006)
    [A ten-year old boy with progressive neurologic outcome]
    Tidsskr Nor Laegeforen, 126 (6), 779-81
    PubMed 16568569
14. Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J (2006)
    Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
    Brain, 129 (Pt 6), 1438-45
    DOI 10.1093/brain/awl107, PubMed 16670177
15. Waring R, Naidu S, Skjeldal O, Klovrza L, Reichelt KL (2006)
    Sulphur anion metabolism in Rett syndrome patients: A pilot study
    J. Pediatr. Neurol., 4 (4), 233-237
16. Aamodt G, Kjendahl A, Jahnsen R (2006)
    Dimensionality and scalability of the Motor Assessment Scale (MAS)
    Disabil Rehabil, 28 (16), 1007-13
    DOI 10.1080/09638280500476188, PubMed 16882640

Publications 2005

1. Diseth TH (2005)
   Dissociation in children and adolescents as reaction to trauma--an overview of conceptual issues and neurobiological factors
   Nord J Psychiatry, 59 (2), 79-91
   DOI 10.1080/08039480510022963, PubMed 16195104
2. Diseth TH, Christie HJ (2005)
   Trauma-related dissociative (conversion) disorders in children and adolescents--an overview of assessment tools and treatment principles
   Nord J Psychiatry, 59 (4), 278-92
   DOI 10.1080/08039480500213683, PubMed 16195132
3. Faugli A, Aamodt G, Bjørnland K, Emblem R, Diseth TH (2005)
   Assessment of early mother-child relation in infants with oesophageal atresia
   Nord J Psychiatry, 59 (6), 498-503
   DOI 10.1080/08039480500360856, PubMed 16316904
4. Ingebrigtsen T, Helland I, Lejon T (2005)
   Palladium-catalysed synthesis of pyrimidines
   Heterocycles, 65 (11), 2593-2603
5. Kjendahl A, Jahnsen R, Aamodt G (2005)
   Motor assessment scale in Norway: Translation and inter-rater reliability
   Eur. J. Physiother., 7 (1), 7-12
   DOI 10.1080/14038190510009441
6. Loewy J, Hallan C, Friedman E, Martinez C (2005)
   Sleep/sedation in children undergoing EEG testing: a comparison of chloral hydrate and music therapy
   J Perianesth Nurs, 20 (5), 323-32
   DOI 10.1016/j.jopan.2005.08.001, PubMed 16246809
7. Lofterød B, Terjesen T, Skaaret I (2005)
   [Gait analysis--a new diagnostic tool]
   Tidsskr Nor Laegeforen, 125 (15), 2014-6
   PubMed 16100541
8. Ramstad K, Tydal T, Askvik KM, Fotland P (2005)
   Predicting carbonate scale in oil producers from high-temperature reservoirs
   SPE J., 10 (4), 363-373
   DOI 10.2118/87430-PA
9. Rasmussen M, Sandvig I, Nustad A, Skjeldal OH (2005)
   [Infantile spasms]
   Tidsskr Nor Laegeforen, 125 (15), 2002-4
   PubMed 16100537
10. Rasmussen M, Sandvig I, Skjeldal OH, Nustad A (2005)
    [Infantile spasms]
    Tidsskr Nor Laegeforen, 125 (16), 2248
    PubMed 16138162
11. Rasmussen M, Skullerud K, Bakke SJ, Lebon P, Jahnsen FL (2005)
    Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters
    Neuropediatrics, 36 (1), 40-4
    DOI 10.1055/s-2004-830532, PubMed 15776321
12. Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M (2005)
    Large genomic rearrangements in MECP2
    Hum Mutat, 25 (3), 324
    DOI 10.1002/humu.9320, PubMed 15712379
13. Stromme P (2005)
    ARX and other single genes in X-linked mental retardation: revisiting a population-based study
    J. Pediatr. Neurol., 3 (2), 121-122
14. Stuen S, Dahl H, Bergström K, Moum T (2005)
    Unidirectional suppression of Anaplasma phagocytophilum genotypes in infected lambs
    Clin Diagn Lab Immunol, 12 (12), 1448-50
    DOI 10.1128/CDLI.12.12.1448-1450.2005, PubMed 16339070

Publications 2004

1. Akre B, Rasmussen M, Lundby R (2004)
   [Pyridoxine-dependent seizures]
   Tidsskr Nor Laegeforen, 124 (2), 162-4
   PubMed 14743226
2. Berg M, Jahnsen R, Frøslie KF, Hussain A (2004)
   Reliability of the Pediatric Evaluation of Disability Inventory (PEDI)
   Phys Occup Ther Pediatr, 24 (3), 61-77
   DOI 10.1300/j006v24n03_05, PubMed 15257969
3. Dahl A, Skjeldal OH, Simensen A, Dalen HE, Bråthen T, Ahlvin P, Svendsby EK, Sveinall A, Fredriksen PM (2004)
   [Treatment of patients with neuromuscular disease in a warm climate]
   Tidsskr Nor Laegeforen, 124 (13-14), 1795-8
   PubMed 15229669
4. Diseth TH, Vandvik IH (2004)
   [Hypnotherapy in the treatment of refractory nocturnal enuresis]
   Tidsskr Nor Laegeforen, 124 (4), 488-91
   PubMed 14983195
5. Holm I, Fosdahl MA, Friis A, Risberg MA, Myklebust G, Steen H (2004)
   Effect of neuromuscular training on proprioception, balance, muscle strength, and lower limb function in female team handball players
   Clin J Sport Med, 14 (2), 88-94
   DOI 10.1097/00042752-200403000-00006, PubMed 15014342
6. Jahnsen R, Villien L, Egeland T, Stanghelle JK, Holm I (2004)
   Locomotion skills in adults with cerebral palsy
   Clin Rehabil, 18 (3), 309-16
   DOI 10.1191/0269215504cr735oa, PubMed 15137562
7. Kyllerman M, Skjeldal O, Christensen E, Hagberg G, Holme E, Lönnquist T, Skov L, Rotwelt T, von Döbeln U (2004)
   Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1
   Eur J Paediatr Neurol, 8 (3), 121-9
   DOI 10.1016/j.ejpn.2003.12.007, PubMed 15120683
8. Matlary A, Prescott T, Tvedt B, Lindberg K, Server A, Aicardi J, Strømme P (2004)
   Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG
   Clin Dysmorphol, 13 (4), 257-260
   DOI 10.1097/00019605-200410000-00012, PubMed 15365465
9. Rasmussen M (2004)
   Carbamazepine and myasthenia gravis
   Neuropediatrics, 35 (4), 259
   DOI 10.1055/s-2004-817956, PubMed 15328570
10. Skjeldal OH (2004)
    [Habilitation of children with cerebral palsy]
    Tidsskr Nor Laegeforen, 124 (9), 1227
    PubMed 15131702
11. Terjesen T, Lofterød B, Myklebust G (2004)
    [Orthopaedic problems in adults with cerebral palsy]
    Tidsskr Nor Laegeforen, 124 (2), 156-9
    PubMed 14743225

Publications 2003

1. Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou J, Skjeldal O, Hanefeld F, Kerr A, Tandy A, Ravine D, Clarke A (2003)
   Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome
   J Med Genet, 40 (5), 380-4
   DOI 10.1136/jmg.40.5.380, PubMed 12746405
2. Hankø E, Tommarello S, Watchko JF, Hansen TW (2003)
   Administration of drugs known to inhibit P-glycoprotein increases brain bilirubin and alters the regional distribution of bilirubin in rat brain
   Pediatr Res, 54 (4), 441-5
   DOI 10.1203/01.PDR.0000085169.87948.B6, PubMed 12904601
3. Jahnsen R, Villien L, Stanghelle JK, Holm I (2003)
   Fatigue in adults with cerebral palsy in Norway compared with the general population
   Dev Med Child Neurol, 45 (5), 296-303
   DOI 10.1017/s0012162203000562, PubMed 12729142
4. Strømme P, Bakke SJ, Dahl A, Gécz J (2003)
   Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
   J Neurol Neurosurg Psychiatry, 74 (4), 536-8
   DOI 10.1136/jnnp.74.4.536, PubMed 12640086
5. Ørstavik KH, Eiklid K, van der Hagen CB, Spetalen S, Kierulf K, Skjeldal O, Buiting K (2003)
   Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection
   Am J Hum Genet, 72 (1), 218-9
   DOI 10.1086/346030, PubMed 12549484

Publications 2002

1. Aksnes G, Diseth TH, Helseth A, Edwin B, Stange M, Aafos G, Emblem R (2002)
   Appendicostomy for antegrade enema: effects on somatic and psychosocial functioning in children with myelomeningocele
   Pediatrics, 109 (3), 484-9
   DOI 10.1542/peds.109.3.484, PubMed 11875145
2. Blomhoff S, Diseth TH, Jacobsen MB, Vatn M (2002)
   [Irritable bowel syndrome--a multifactorial disease in children and adults]
   Tidsskr Nor Laegeforen, 122 (12), 1213-7
   PubMed 12089850
3. Brockmann K, Bjornstad A, Dechent P, Korenke CG, Smeitink J, Trijbels JM, Athanassopoulos S, Villagran R, Skjeldal OH, Wilichowski E, Frahm J, Hanefeld F (2002)
   Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency
   Ann Neurol, 52 (1), 38-46
   DOI 10.1002/ana.10232, PubMed 12112045
4. Hagberg B, Hanefeld F, Percy A, Skjeldal O (2002)
   An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
   Eur J Paediatr Neurol, 6 (5), 293-7
   DOI 10.1053/ejpn.2002.0612, PubMed 12378695
5. Jamain S, Quach H, Quintana-Murci L, Betancur C, Philippe A, Gillberg C, Sponheim E, Skjeldal OH, Fellous M, Leboyer M, Bourgeron T (2002)
   Y chromosome haplogroups in autistic subjects
   Mol Psychiatry, 7 (2), 217-9
   DOI 10.1038/sj.mp.4000968, PubMed 11840316
6. Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC (2002)
   X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX
   Neurology, 59 (3), 348-56
   DOI 10.1212/wnl.59.3.348, PubMed 12177367
7. Solaas KM, Skjeldal O, Gardner ML, Kase FB, Reichelt KL (2002)
   Urinary peptides in Rett syndrome
   Autism, 6 (3), 315-28
   DOI 10.1177/1362361302006003008, PubMed 12212921
8. Storheim K, Bø K, Pederstad O, Jahnsen R (2002)
   Intra-tester reproducibility of pressure biofeedback in measurement of transversus abdominis function
   Physiother Res Int, 7 (4), 239-49
   DOI 10.1002/pri.263, PubMed 12528579
9. Strømme P, Bjørnstad PG, Ramstad K (2002)
   Prevalence estimation of Williams syndrome
   J Child Neurol, 17 (4), 269-71
   DOI 10.1177/088307380201700406, PubMed 12088082
10. Aasland A, Tyldum G (2002)
    The NORBALT project: Comparative studies of living conditions in the three Baltic countries
    Soc. Indic. Res., 58 (1-3), 177-189
    DOI 10.1023/A:1015735917300

Publications 2001

1. Andersen WH, Rasmussen RK, Strømme P (2001)
   Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children
   Logoped Phoniatr Vocol, 26 (1), 2-9
   PubMed 11432411
2. Bjørnstad A, Skjeldal OH (2001)
   [Ischemic stroke in children--a diagnostic challenge]
   Tidsskr Nor Laegeforen, 121 (15), 1826-8
   PubMed 11464690
3. Haugen G, Helland I (2001)
   Influence of preeclampsia or maternal intake of omega-3 fatty acids on the vasoactive effect of prostaglandin F-two-alpha in human umbilical arteries
   Gynecol Obstet Invest, 52 (2), 75-81
   DOI 10.1159/000052947, PubMed 11586032
4. Sevre K, Bendz B, Hankø E, Nakstad AR, Hauge A, Kåsin JI, Lefrandt JD, Smit AJ, Eide I, Rostrup M (2001)
   Reduced autonomic activity during stepwise exposure to high altitude
   Acta Physiol Scand, 173 (4), 409-17
   DOI 10.1046/j.1365-201X.2001.00925.x, PubMed 11903133
5. Skaug MA, Helland I, Solvoll K, Saugstad OD (2001)
   Presence of ochratoxin A in human milk in relation to dietary intake
   Food Addit Contam, 18 (4), 321-7
   DOI 10.1080/02652030117740, PubMed 11339267
6. Skaug MA, Helland I, Solvoll K, Saugstad OD (2001)
   Presence of ochratoxin A in human milk in relation to dietary intake
   Food Addit. Contam. Part A-Chem., 18 (4), 321-327
   DOI 10.1080/02652030010021477
7. Skjeldal OH (2001)
   [Cerebral paresis]
   Tidsskr Nor Laegeforen, 121 (13), 1565
   PubMed 11446038
8. Wanders RJ, Jansen GA, Skjeldal OH (2001)
   Refsum disease, peroxisomes and phytanic acid oxidation: a review
   J Neuropathol Exp Neurol, 60 (11), 1021-31
   DOI 10.1093/jnen/60.11.1021, PubMed 11706932

Publications 2000

1. Jansen GA, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ (2000)
   Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease
   Hum Mol Genet, 9 (8), 1195-200
   DOI 10.1093/hmg/9.8.1195, PubMed 10767344
2. Rasmussen M, Sanengen T, Skullerud K, Kvittingen EA, Skjeldal OH (2000)
   Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease
   J Child Neurol, 15 (7), 473-7
   DOI 10.1177/088307380001500709, PubMed 10921519
3. Strømme P (2000)
   Aetiology in severe and mild mental retardation: a population-based study of Norwegian children
   Dev Med Child Neurol, 42 (2), 76-86
   DOI 10.1017/s0012162200000165, PubMed 10698323
4. Strømme P, Diseth TH (2000)
   Prevalence of psychiatric diagnoses in children with mental retardation: data from a population-based study
   Dev Med Child Neurol, 42 (4), 266-70
   DOI 10.1017/s0012162200000451, PubMed 10795566
5. Strømme P, Magnus P (2000)
   Correlations between socioeconomic status, IQ and aetiology in mental retardation: a population-based study of Norwegian children
   Soc Psychiatry Psychiatr Epidemiol, 35 (1), 12-8
   DOI 10.1007/s001270050003, PubMed 10741531
6. Strømme P, Thaulow E, Geiran O (2000)
   Cardiac surgery in a girl with trisomy 13
   Cardiol Young, 10 (6), 638-40
   DOI 10.1017/s1047951100008945, PubMed 11117399

Publications 1999

1. Diseth TH, Emblem R, Schultz A (1999)
   Mental health, psychosocial functioning, and quality of life in patients with bladder exstrophy and epispadias - an overview
   World J Urol, 17 (4), 239-48
   DOI 10.1007/s003450050139, PubMed 10460407
2. Gerdts R, Jensen D, Fauchald P, Skjeldal O (1999)
   [Guillain-Barre syndrome. Current treatment principles in the light of clinical aspects]
   Tidsskr Nor Laegeforen, 119 (4), 506-9
   PubMed 10081373
3. Helland I, Lejon T (1999)
   Synthesis of 4-phenylpyrimidine from acetophenone and formamide
   Heterocycles, 51 (3), 611-615
4. Lejon T, Helland I (1999)
   Effect of formamide in the Leuckart reaction
   Acta Chem. Scand., 53 (1), 76-78
   DOI 10.3891/acta.chem.scand.53-0076
5. Rasmussen M, Kerty E (1999)
   Benign paroxysmal tonic upgaze of a child with positive MRI findings
   J Pediatr Ophthalmol Strabismus, 36 (3), 164-6
   DOI 10.3928/0191-3913-19990501-18, PubMed 10358824
6. Strømme P, Sundet K, Mørk C, Cassiman JJ, Fryns JP, Claes S (1999)
   X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11
   J Med Genet, 36 (5), 374-8
   PubMed 10353782
7. Aasland A (1999)
   Multidimensional outcome in juvenile rheumatic diseases: A 9-year prospective follow-up
   Nord. J. Psychiatr., 53 (2), 161
8. Aasland A, Diseth TH (1999)
   Can the Harter Self-Perception Profile for Adolescents (SPPA) be used as an indicator of psychosocial outcome in adolescents with chronic physical disorders?
   Eur Child Adolesc Psychiatry, 8 (2), 78-85
   DOI 10.1007/s007870050088, PubMed 10435456

Publications 1998

1. Bjornland K, Diseth TH, Emblem R (1998)
   Long-term functional, manometric, and endosonographic evaluation of patients operated upon with the Duhamel technique
   Pediatr Surg Int, 13 (1), 24-8
   DOI 10.1007/s003830050236, PubMed 9391199
2. Diseth TH, Bjordal R, Schultz A, Stange M, Emblem R (1998)
   Somatic function, mental health and psychosocial functioning in 22 adolescents with bladder exstrophy and epispadias
   J Urol, 159 (5), 1684-9; discussion 1689-90
   DOI 10.1097/00005392-199805000-00092, PubMed 9554394
3. Diseth TH, Egeland T, Emblem R (1998)
   Effects of anal invasive treatment and incontinence on mental health and psychosocial functioning of adolescents with Hirschsprung's disease and low anorectal anomalies
   J Pediatr Surg, 33 (3), 468-75
   DOI 10.1016/s0022-3468(98)90090-2, PubMed 9537559
4. Flatø B, Sørskaar D, Vinje O, Lien G, Aasland A, Moum T, Førre O (1998)
   Measuring disability in early juvenile rheumatoid arthritis: evaluation of a Norwegian version of the childhood Health Assessment Questionnaire
   J Rheumatol, 25 (9), 1851-8
   PubMed 9733471
5. Flatø B, Aasland A, Vinje O, Førre O (1998)
   Outcome and predictive factors in juvenile rheumatoid arthritis and juvenile spondyloarthropathy
   J Rheumatol, 25 (2), 366-75
   PubMed 9489836
6. Hayes TB, Ramstad K, Nielsen EW (1998)
   [Hereditary exostoses--presentation of a family case]
   Tidsskr Nor Laegeforen, 118 (24), 3769-72
   PubMed 9816946
7. Jansen GA, Ferdinandusse S, Skjeldal OH, Stokke O, de Groot CJ, Jakobs C, Wanders RJ (1998)
   Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA
   J Inherit Metab Dis, 21 (3), 288-91
   DOI 10.1023/a:1005388710197, PubMed 9686377
8. Ramstad K, Oftedal G (1998)
   [Health services to the mentally retarded]
   Tidsskr Nor Laegeforen, 118 (8), 1258-9
   PubMed 9567707
9. Rasmussen M, Strømme P (1998)
   Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
   Clin Dysmorphol, 7 (1), 61-3
   PubMed 9546834
10. Skjeldal OH, Sponheim E, Ganes T, Jellum E, Bakke S (1998)
    Childhood autism: the need for physical investigations
    Brain Dev, 20 (4), 227-33
    DOI 10.1016/s0387-7604(98)00031-x, PubMed 9661967
11. Sponheim E, Skjeldal O (1998)
    Autism and related disorders: epidemiological findings in a Norwegian study using ICD-10 diagnostic criteria
    J Autism Dev Disord, 28 (3), 217-27
    DOI 10.1023/a:1026017405150, PubMed 9656133
12. Strømme P (1998)
    [Syndromes--correct diagnosis means better follow-up]
    Tidsskr Nor Laegeforen, 118 (10), 1539
    PubMed 9615578
13. Strømme P, Valvatne K (1998)
    Mental retardation in Norway: prevalence and sub-classification in a cohort of 30037 children born between 1980 and 1985
    Acta Paediatr, 87 (3), 291-6
    DOI 10.1080/08035259850157345, PubMed 9560036
14. Tvrdik T, Marcus S, Hou SM, Fält S, Noori P, Podlutskaja N, Hanefeld F, Strømme P, Lambert B (1998)
    Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
    Hum Genet, 103 (3), 311-8
    DOI 10.1007/s004390050822, PubMed 9799086
15. Aasland A, Flatø B, Vandvik IH (1998)
    Patient and parent experiences with health care services in pediatric rheumatology
    Scand J Rheumatol, 27 (4), 265-72
    DOI 10.1080/030097498442370, PubMed 9751466

Publications 1997

1. Bjursell C, Stibler H, Wahlström J, Kristiansson B, Skovby F, Strömme P, Blennow G, Martinsson T (1997)
   Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families
   Genomics, 39 (3), 247-53
   DOI 10.1006/geno.1996.4488, PubMed 9119361
2. Diseth TH, Bjørnland K, Nøvik TS, Emblem R (1997)
   Bowel function, mental health, and psychosocial function in adolescents with Hirschsprung's disease
   Arch Dis Child, 76 (2), 100-6
   DOI 10.1136/adc.76.2.100, PubMed 9068296
3. Emblem R, Diseth T, Morkrid L (1997)
   Anorectal anomalies: anorectal manometric function and anal endosonography in relation to functional outcome
   Pediatr Surg Int, 12 (7), 516-9
   DOI 10.1007/BF01258715, PubMed 9238120
4. Flatø B, Aasland A, Vandvik IH, Førre O (1997)
   Outcome and predictive factors in children with chronic idiopathic musculoskeletal pain
   Clin Exp Rheumatol, 15 (5), 569-77
   PubMed 9307867
5. Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GT, Wraith JE, Wanders RJ (1997)
   Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
   Nat Genet, 17 (2), 190-3
   DOI 10.1038/ng1097-190, PubMed 9326940
6. Lofterød B (1997)
   [Down syndrome --a multidisciplinary challenge]
   Tidsskr Nor Laegeforen, 117 (6), 803-4
   PubMed 9102971
7. Njølstad PR, Skjeldal OH, Agsteribbe E, Huckriede A, Wannag E, Søvik O, Waaler PE (1997)
   Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity
   Pediatr Neurol, 16 (2), 160-2
   DOI 10.1016/s0887-8994(96)00318-9, PubMed 9090694
8. Orstavik KH, Strømme P, Ek J, Torvik A, Skjeldal OH (1997)
   Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
   J Med Genet, 34 (10), 849-51
   DOI 10.1136/jmg.34.10.849, PubMed 9350820
9. Ramstad K (1997)
   [Care of epilepsy in mentally retarded persons]
   Tidsskr Nor Laegeforen, 117 (26), 3849
   PubMed 9417695
10. Skjeldal OH, von Tetzchner S, Aspelund F, Herder GA, Lofterłd B (1997)
    Rett syndrome: geographic variation in prevalence in Norway
    Brain Dev, 19 (4), 258-61
    DOI 10.1016/s0387-7604(97)00572-x, PubMed 9187475
11. Strømme P, Andersen W (1997)
    Developmental aspects in apple peel intestinal atresia-ocular anomalies-microcephaly syndrome
    Clin Genet, 52 (2), 133
    DOI 10.1111/j.1399-0004.1997.tb02532.x, PubMed 9298751
12. Strømme P, Månsson JE, Scott H, Skullerud K, Hovig T (1997)
    Encephaloneuropathy with lysosomal zebra bodies and GM2 ganglioside storage
    Pediatr Neurol, 16 (2), 141-4
    DOI 10.1016/s0887-8994(96)00298-6, PubMed 9090689
13. Aasland A, Flatö B, Vandvik IH (1997)
    Psychosocial factors in children with idiopathic musculoskeletal pain: a prospective, longitudinal study
    Acta Paediatr, 86 (7), 740-6
    DOI 10.1111/j.1651-2227.1997.tb08578.x, PubMed 9240883
14. Aasland A, Flatø B, Vandvik IH (1997)
    Psychosocial outcome in juvenile chronic arthritis: a nine-year follow-up
    Clin Exp Rheumatol, 15 (5), 561-8
    PubMed 9307866

Publications 1996

1. Bringeland EA, Ramstad K, Nielsen EW, Andersen L, Amundsen W, Mollnes TE (1996)
   [Reduced blood utilization in hip arthroplasty. Introduction of a blood preservation program]
   Tidsskr Nor Laegeforen, 116 (1), 30-3
   PubMed 8553331
2. Dahl M, Thommessen M, Rasmussen M, Selberg T (1996)
   Feeding and nutritional characteristics in children with moderate or severe cerebral palsy
   Acta Paediatr, 85 (6), 697-701
   DOI 10.1111/j.1651-2227.1996.tb14129.x, PubMed 8816207
3. Diseth TH, Emblem R (1996)
   Somatic function, mental health, and psychosocial adjustment of adolescents with anorectal anomalies
   J Pediatr Surg, 31 (5), 638-43
   DOI 10.1016/s0022-3468(96)90664-8, PubMed 8861471
4. Hansen TW, Henrichsen B, Rasmussen RK, Carling A, Andressen AB, Skjeldal O (1996)
   Neuropsychological and linguistic follow-up studies of children with galactosaemia from an unscreened population
   Acta Paediatr, 85 (10), 1197-201
   DOI 10.1111/j.1651-2227.1996.tb18228.x, PubMed 8922083
5. Malm G, Ringdén O, Winiarski J, Gröndahl E, Uyebrant P, Eriksson U, Håkansson H, Skjeldal O, Månsson JE (1996)
   Clinical outcome in four children with metachromatic leukodystrophy treated by bone marrow transplantation
   Bone Marrow Transplant, 17 (6), 1003-8
   PubMed 8807106
6. Rasmussen RK, Andreassen AB, Strømme P, Hansen TW (1996)
   Learning disabilities and language pathology in patients with galactosemia
   Logoped Phoniatr Vocol, 21 (3-4), 157-62
   DOI 10.3109/14015439609098884, PubMed 21275587
7. Rösby O, Strömme P, Sandsmark M, Ramstad K, Ormerod E, Birger van der Hagen C, Kubota T, Ledbetter DH, Orstavik KH (1996)
   Unilateral cleft lip in a boy with Angelman syndrome
   J Craniofac Genet Dev Biol, 16 (2), 122-5
   PubMed 8773903
8. Strømme P, Sandboe F (1996)
   Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
   Acta Ophthalmol Scand, 74 (1), 45-7
   DOI 10.1111/j.1600-0420.1996.tb00680.x, PubMed 8689480
9. Thoresen M, Haaland K, Løberg EM, Whitelaw A, Apricena F, Hankø E, Steen PA (1996)
   A piglet survival model of posthypoxic encephalopathy
   Pediatr Res, 40 (5), 738-48
   DOI 10.1203/00006450-199611000-00014, PubMed 8910940
10. von Tetzchner S, Jacobsen KH, Smith L, Skjeldal OH, Heiberg A, Fagan JF (1996)
    Vision, cognition and developmental characteristics of girls and women with Rett syndrome
    Dev Med Child Neurol, 38 (3), 212-25
    DOI 10.1111/j.1469-8749.1996.tb15083.x, PubMed 8631518

Publications 1995

1. CARLSEN PHJ, RIST O, LUND T, HELLAND I (1995)
   DESULFONATION OF ALKANESULFONATES AND SULFONYL CHLORIDES
   Acta Chem. Scand., 49 (9), 701-702
   DOI 10.3891/acta.chem.scand.49-0701
2. Lekman A, Skjeldal O, Sponheim E, Svennerholm L (1995)
   Gangliosides in children with autism
   Acta Paediatr, 84 (7), 787-90
   DOI 10.1111/j.1651-2227.1995.tb13757.x, PubMed 7549298
3. Levene M, Blennow M, Whitelaw A, Hankø E, Fellman V, Hartley R (1995)
   Acute effects of two different doses of magnesium sulphate in infants with birth asphyxia
   Arch Dis Child Fetal Neonatal Ed, 73 (3), F174-7
   DOI 10.1136/fn.73.3.f174, PubMed 8535876
4. ODBERG T, PEDERSEN OO, FLAGE T, FINNE PH, WHITELAW A, RIISE R, ARNESTAD J, SKUESETH T, ANDREASSON S, BORGSTROM M, RUDLING O, TOMMERUP N, WRIGHT A, KNUDTZON J, LOFTEROD B, STORHAUG K, SKUESETH T, ROSENBERG T, TORNQVIST K, KLYVE P (1995)
   THE NORWEGIAN-OPHTHALMOLOGICAL-SOCIETY SPRING MEETING, BERGEN, NORWAY, 1995 - USE OF MITOMYCIN IN TRABECULECTOMIES
   Acta Ophthalmol. Scand., 73 (5), 478-479
5. Orderud WJ, Skjeldal OH, Strømme P (1995)
   [Neuronal migration disorders. Radiological and clinical aspects]
   Tidsskr Nor Laegeforen, 115 (16), 1952-6
   PubMed 7638849
6. Orstavik KH, Strömme P, Spetalen S, Flage T, Westvik J, Vesterhus P, Skjeldal O (1995)
   Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?
   Am J Med Genet, 59 (1), 92-5
   DOI 10.1002/ajmg.1320590118, PubMed 8849019
7. Skjeldal OH (1995)
   [Rett syndrome--mostly an unsolved mystery]
   Tidsskr Nor Laegeforen, 115 (5), 579-80
   PubMed 7900106
8. Skjeldal OH, von Tetzchner S, Jacobsen K, Smith L, Heiberg A (1995)
   Rett syndrome--distribution of phenotypes with special attention to the preserved speech variant
   Neuropediatrics, 26 (2), 87
   DOI 10.1055/s-2007-979732, PubMed 7566462
9. Steen-Johnsen J, Bolle R, Holt J, Benan K, Magnus P (1995)
   Impact of pollution and place of residence on atopic diseases among schoolchildren in Telemark County, Norway
   Pediatr Allergy Immunol, 6 (4), 192-9
   DOI 10.1111/j.1399-3038.1995.tb00284.x, PubMed 8822391
10. Strømme P, Stokke O, Jellum E, Skjeldal OH, Baumgartner R (1995)
    Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?
    Clin Genet, 48 (1), 1-5
    DOI 10.1111/j.1399-0004.1995.tb04045.x, PubMed 7586637

Publications 1994

1. Diseth TH, Emblem R, Solbraa IB, Vandvik IH (1994)
   A psychosocial follow-up of ten adolescents with low anorectal malformation
   Acta Paediatr, 83 (2), 216-21
   DOI 10.1111/j.1651-2227.1994.tb13054.x, PubMed 8193506
2. Emblem R, Diseth T, Mørkrid L, Stien R, Bjordal R (1994)
   Anal endosonography and physiology in adolescents with corrected low anorectal anomalies
   J Pediatr Surg, 29 (3), 447-51
   DOI 10.1016/0022-3468(94)90589-4, PubMed 8201517
3. Hagberg BA, Skjeldal OH (1994)
   Rett variants: a suggested model for inclusion criteria
   Pediatr Neurol, 11 (1), 5-11
   DOI 10.1016/0887-8994(94)90082-5, PubMed 7986294
4. Kyllerman M, Skjeldal OH, Lundberg M, Holme I, Jellum E, von Döbeln U, Fossen A, Carlsson G (1994)
   Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations
   Mov Disord, 9 (1), 22-30
   DOI 10.1002/mds.870090105, PubMed 8139602
5. Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J (1994)
   Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
   Hum Mol Genet, 3 (11), 2037-42
   PubMed 7874123
6. Skjeldal OH, Strømme P, Christensen E (1994)
   [Adrenoleukodystrophy--clinical, biochemical and therapeutic aspects]
   Tidsskr Nor Laegeforen, 114 (28), 3321-3
   PubMed 7809891
7. Vandvik IH, Skjeldal O (1994)
   [Conversion disorders in children and adolescents. A multidisciplinary approach]
   Tidsskr Nor Laegeforen, 114 (12), 1405-8
   PubMed 8079224

Publications 1993

1. Agsteribbe E, Huckriede A, Veenhuis M, Ruiters MH, Niezen-Koning KE, Skjeldal OH, Skullerud K, Gupta RS, Hallberg R, van Diggelen OP (1993)
   A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60
   Biochem Biophys Res Commun, 193 (1), 146-54
   DOI 10.1006/bbrc.1993.1602, PubMed 8503901
2. Berge T, Diseth TH (1993)
   [Encopresis--in a child psychiatric treatment regime]
   Tidsskr Nor Laegeforen, 113 (27), 3345-8
   PubMed 8273058
3. Bolz KD, Aadahl P, Mangersnes J, Rødsjø JA, Jørstad S, Myhre HO, Angelsen BA, Nordby A (1993)
   Intravascular ultrasonographic assessment of thrombus formation on central venous catheters
   Acta Radiol, 34 (2), 162-7
   DOI 10.1177/028418519303400212, PubMed 8452723
4. Fannemel M, Riise R, Lofterød B, Tommerup N (1993)
   High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome
   Clin Genet, 43 (2), 111-2
   DOI 10.1111/j.1399-0004.1993.tb04461.x, PubMed 8448900
5. Fryns JP, Strømme P, van den Berghe H (1993)
   Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23
   Clin Genet, 44 (3), 149-51
   DOI 10.1111/j.1399-0004.1993.tb03867.x, PubMed 8275574
6. Strøm EH, Strømme P, Westvik J, Pedersen SJ (1993)
   Renal cysts in the carbohydrate-deficient glycoprotein syndrome
   Pediatr Nephrol, 7 (3), 253-5
   DOI 10.1007/BF00853211, PubMed 8518092
7. Strømme P, Dahl E, Flage T, Stene-Johansen H (1993)
   Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly
   Clin Genet, 44 (4), 208-10
   DOI 10.1111/j.1399-0004.1993.tb03881.x, PubMed 8261651
8. Strømme P, Knudtzon J, Westvik J, Traaholt L, Brandt-Hansen P (1993)
   Cleft lip and palate, scoliosis, skeletal and cardiac malformations and other dysmorphic features in a child. Case report
   Scand J Plast Reconstr Surg Hand Surg, 27 (1), 71-4
   DOI 10.3109/02844319309080295, PubMed 8493488

Publications 1992

1. AKSNES DW, KIMTYS LL, RAMSTAD K (1992)
   HIGH-FIELD NMR-STUDIES OF TERT-BUTYL CYANIDE IN LIQUID AND SOLID-PHASES
   Magn. Reson. Chem., 30 (9), 865-870
   DOI 10.1002/mrc.1260300913
2. Ostensen AB, Skjeldal OH, Monn E, Motzfeldt K, Fossen A, Jellum E, Hald JK, Bostad R (1992)
   [Glutaric aciduria type I]
   Tidsskr Nor Laegeforen, 112 (8), 1020-2
   PubMed 1553724
3. Rasmussen M, Grøholt B, Spurkland I (1992)
   [Use of psychopharmaceuticals in child- and adolescent-outpatient practice]
   Tidsskr Nor Laegeforen, 112 (8), 1003-6
   PubMed 1553719
4. Strømme P, Skjeldal OH, Knudtzon J (1992)
   [Mental retardation in children. Prevalence and etiology]
   Tidsskr Nor Laegeforen, 112 (6), 749-51
   PubMed 1561594

Publications 1991

1. Hald JK, Nakstad PH, Skjeldal OH, Strømme P (1991)
   Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I
   AJNR Am J Neuroradiol, 12 (3), 407-9
   PubMed 2058483
2. Heiberg A, Lofterød B (1991)
   [Prader-Willi syndrome]
   Nord Med, 106 (6-7), 189-90
   PubMed 1852594
3. JAEKEN J, HAGBERG B, STROMME P (1991)
   CLINICAL PRESENTATION AND NATURAL COURSE OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
   ACTA PAEDIATR SCAND (375), 6-13
4. Ruiters MH, van Spronsen EA, Skjeldal OH, Stromme P, Scholte HR, Pzyrembel H, Smit GP, Ruitenbeek W, Agsteribbe E (1991)
   Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disorders
   J Inherit Metab Dis, 14 (1), 45-8
   DOI 10.1007/BF01804387, PubMed 1861458
5. Skjeldal OH, Skullerud K (1991)
   [Mitochondrial diseases--more common than we realize?]
   Tidsskr Nor Laegeforen, 111 (2), 177-9
   PubMed 1998173
6. STROMME P, MAEHLEN J, STROM EH, TORVIK A (1991)
   POSTMORTEM FINDINGS IN 2 PATIENTS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
   ACTA PAEDIATR SCAND (375), 55-62
7. Strømme P (1991)
   The diagnosis of syndromes by use of a dysmorphology database
   Acta Paediatr Scand, 80 (1), 106-9
   DOI 10.1111/j.1651-2227.1991.tb11741.x, PubMed 2028781
8. Strømme P, Maehlen J, Strøm EH, Torvik A (1991)
   [The carbohydrate deficient glycoprotein syndrome]
   Tidsskr Nor Laegeforen, 111 (10), 1236-7
   PubMed 2042132

Publications 1990

1. Poll-The BT, Skjeldal OH, Stokke O, Demaugre F, Saudubray JM (1990)
   Complementation analysis of peroxisomal disorders and classical Refsum
   Prog Clin Biol Res, 321, 537-43
   PubMed 1691507
2. Skjeldal OH, Kase BF (1990)
   [Peroxisomal disorders. A new group of metabolic diseases]
   Tidsskr Nor Laegeforen, 110 (15), 1943-6
   PubMed 2194321
3. Strømme P, Ose L (1990)
   [Identification of syndromes using a combined computer and video program]
   Tidsskr Nor Laegeforen, 110 (9), 1085-7
   PubMed 2184540

Publications 1989

1. Diseth TH (1989)
   [The syringe dispenser project in Larvik. Experiences after one year]
   Tidsskr Nor Laegeforen, 109 (32), 3345-8
   PubMed 2595707
2. Fossen A, Skjeldal OH, Storm-Mathisen I (1989)
   [Psychological and neurologic long-term consequences of brain tumors in children. A pilot study]
   Tidsskr Nor Laegeforen, 109 (33), 3406-8
   PubMed 2609299
3. Poll-The BT, Skjeldal OH, Stokke O, Poulos A, Demaugre F, Saudubray JM (1989)
   Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders
   Hum Genet, 81 (2), 175-81
   DOI 10.1007/BF00293897, PubMed 2463966
4. Thoresen GH, Gjone IH, Gladhaug IP, Refsnes M, Ostby E, Christoffersen T (1989)
   Studies of glucocorticoid enhancement of the capacity of hepatocytes to accumulate cyclic AMP
   Pharmacol Toxicol, 65 (3), 175-80
   DOI 10.1111/j.1600-0773.1989.tb01151.x, PubMed 2478993

Publications 1988

1. AKSNES DW, RAMSTAD K, BJORLYKKE OP (1988)
   NATURAL ABUNDANCE C-13 AND DEUTERIUM NMR-STUDIES ON THE LIQUID AND SOLID-PHASES OF TERT-BUTYL CHLORIDE AND TERT-BUTYL NITRATE
   Magn. Reson. Chem., 26 (12), 1086-1092
   DOI 10.1002/mrc.1260261210
2. Kanavin OJ, Haug E, Gaarder PI (1988)
   [Thyroid function in adults with Down's syndrome. A study from an institution]
   Tidsskr Nor Laegeforen, 108 (10), 747-9
   PubMed 2966454
3. Torvik A, Torp S, Kase BF, Ek J, Skjeldal O, Stokke O (1988)
   Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination
   J Neurol Sci, 85 (1), 39-53
   DOI 10.1016/0022-510x(88)90034-2, PubMed 2455020

Publications 1987

1. AKSNES DW, RAMSTAD K (1987)
   PROTON AND C-13 NMR RELAXATION STUDIES OF 2,2-DICHLOROPROPANE AND 2,2-DIBROMOPROPANE
   Magn. Reson. Chem., 25 (6), 534-538
   DOI 10.1002/mrc.1260250616
2. AKSNES DW, RAMSTAD K (1987)
   PROTON AND C-13 NMR RELAXATION STUDIES ON TERT-BUTYL THIOL
   ACTA CHEM SCAND A, 41 (1), 1-7
   DOI 10.3891/acta.chem.scand.41a-0001
3. AKSNES DW, RAMSTAD K, BJORLYKKE OP (1987)
   C-13 NMR LINE-WIDTH AND RELAXATION STUDIES OF TERT-BUTYL BROMIDE AND TERT-BUTYL CYANIDE
   Magn. Reson. Chem., 25 (12), 1063-1068
   DOI 10.1002/mrc.1260251209
4. Kanavin OJ (1987)
   [Hypothyroidism and celiac disease in an adult with mongolism]
   Tidsskr Nor Laegeforen, 107 (12), 1030, 1036
   PubMed 2955546
5. Skjeldal OH, Stokke O (1987)
   The subcellular localization of phytanic acid oxidase in rat liver
   Biochim Biophys Acta, 921 (1), 38-42
   DOI 10.1016/0005-2760(87)90167-6, PubMed 3620488
6. Skjeldal OH, Stokke O, Refsum S, Norseth J, Petit H (1987)
   Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation
   J Neurol Sci, 77 (1), 87-96
   DOI 10.1016/0022-510x(87)90209-7, PubMed 2433405

Publications 1986

1. Kerty E, Eide N, Skjeldal O (1986)
   Visual evoked response in syphilitic optic atrophy. A case report
   Acta Ophthalmol (Copenh), 64 (5), 553-6
   DOI 10.1111/j.1755-3768.1986.tb06972.x, PubMed 3492857
2. Petit H, Leys D, Skjeldal OH, Caron JC, Lambert P, Lehembre P, Hache JC (1986)
   [Refsum's disease. Epidemiologic, clinical and biological correlation. 6 cases]
   Rev Neurol (Paris), 142 (5), 500-8
   PubMed 2431446
3. Skjeldal OH, Gjerstad L, Russell D, Hansen RN (1986)
   [Migraine and neurological disorders]
   Tidsskr Nor Laegeforen, 106 (15), 1298-300
   PubMed 3726844
4. Skjeldal OH, Russell D, Hansen RN, Bakke SJ (1986)
   [Cervical bruit and carotid artery stenosis]
   Tidsskr Nor Laegeforen, 106 (4), 306-7
   PubMed 3961746
5. Skjeldal OH, Stokke O, Norseth J, Lie SO (1986)
   Phytanic acid oxidase activity in cultured skin fibroblasts. Diagnostic usefulness and limitations
   Scand J Clin Lab Invest, 46 (3), 283-7
   DOI 10.3109/00365518609083671, PubMed 2424078
6. Stokke O, Jellum E, Kvittingen EA, Skjeldal O, Hvistendahl G (1986)
   Epoxy acids in peroxisomal disorders
   Scand J Clin Lab Invest, 46 (1), 95-6
   DOI 10.3109/00365518609086487, PubMed 3952444
7. Stokke O, Skjeldal OH, Høie K (1986)
   Disorders related to the metabolism of phytanic acid
   Scand J Clin Lab Invest Suppl, 184, 3-10
   PubMed 2438746
8. Storhaug K, Lofterød B (1986)
   [A scopolamine plaster behind the ear to prevent drooling?]
   Tidsskr Nor Laegeforen, 106 (29), 2440
   PubMed 3787613

Publications 1985

1. AKSNES DW, RAMSTAD K (1985)
   C-13 NMR SPIN-LATTICE RELAXATION AND MOLECULAR-MOTION IN 2-PHENYL-1,3,2-DIOXARSOLANE AND ITS 4-METHYL AND 4,5-DIMETHYL DERIVATIVES
   Magn. Reson. Chem., 23 (4), 253-258
   DOI 10.1002/mrc.1260230409
2. Lofterød B, Sortland O (1985)
   [Cerebral computer tomography. Experiences of a pediatric department]
   Tidsskr Nor Laegeforen, 105 (32), 2307-10
   PubMed 4082143

Publications 1984

1. AKSNES DW, RAMSTAD K (1984)
   C-13 NMR SPIN-LATTICE RELAXATION STUDIES ON 2-CHLORO-1,3,2-DIOXARSOLANE AND ITS RING-SUBSTITUTED METHYL-DERIVATIVES
   ACTA CHEM SCAND A, 38 (10), 781-787
   DOI 10.3891/acta.chem.scand.38a-0781
2. Eide N, Skjeldal O (1984)
   Juxtapapillary chorioretinitis in neurosyphilis. A case report
   Acta Ophthalmol (Copenh), 62 (3), 351-8
   DOI 10.1111/j.1755-3768.1984.tb08414.x, PubMed 6464683
3. Skjeldal OH (1984)
   [Positive Wassermann in the spinal fluid. Does it always mean neurosyphilis?]
   Tidsskr Nor Laegeforen, 104 (23), 1523-5
   PubMed 6484904
4. Skjeldal OH, Westre B (1984)
   [Hemiballism]
   Tidsskr Nor Laegeforen, 104 (19-21), 1313-4
   PubMed 6740629

Publications 1982

1. Grinde B, Jahnsen R (1982)
   Effects of protein-degradation inhibitors on the inactivation of tyrosine aminotransferase, tryptophan oxygenase and benzopyrene hydroxylase in isolated rat hepatocytes
   Biochem J, 202 (1), 191-6
   DOI 10.1042/bj2020191, PubMed 6123318
2. Lofterød B, Asberg A, Lossius OP (1982)
   [Rectal administration of diazepam in solution in dental treatment of mentally retarded patients]
   Tidsskr Nor Laegeforen, 102 (17-18), 978-9
   PubMed 7157275

Publications 1980

1. Skjeldal OH (1980)
   [Transient global amnesia]
   Tidsskr Nor Laegeforen, 100 (16), 1078-9
   PubMed 7414590

Publications 1979

1. Lofterød B (1979)
   [Imipramine therapy of nocturnal enuresis. Dosage and adverse effects]
   Tidsskr Nor Laegeforen, 99 (32), 1662-3
   PubMed 531848

Publications 1977

1. Ramstad K (1977)
   [A year of rheumatic surgery at nordland central hospital]
   Tidsskr Nor Laegeforen, 97 (9-10), 462-3
   PubMed 300515

Publications 1975

1. Jahnsen R (1975)
   [Editorial: Do we take a position?]
   Sykepleien, 62 (8), 307
   PubMed 1039124

Publications 1973

1. Gunnarsson A, Hurvell B, Hanko E (1973)
   [Proceedings: Netherlands Society for Microbiology meeting at Utrecht on 2 May 1973. Environmental effects on bacterial wall synthesis]
   Nord Vet Med, 25 (6), 313-21
   PubMed 4768223

Publications 1970

1. Hanko E, Erne K, Wanntorp H, Borg K (1970)
   Poisoning in ferrets by tissues of alkyl mercury-fed chickens
   Acta Vet Scand, 11 (2), 268-82
   DOI 10.1186/BF03547987, PubMed 5449102
2. Karlsson KA, Dahlstrand S, Hanko E, Söderlind O (1970)
   Demonstration of Francisella tularensis (syn. Pasteurella tularensis) in sylvan animals with the aid of fluorescent antibodies
   Acta Pathol Microbiol Scand B Microbiol Immunol, 78 (5), 647-51
   DOI 10.1111/j.1699-0463.1970.tb04351.x, PubMed 4922256

Publications 1964

1. RAMSTAD K (1964)
   [CONGENITAL DYSPLASIA OF THE HIP. EXPERIENCES WITH ORTOLANI'S EXAMINATION]
   Tidsskr Nor Laegeforen, 84, 1680-3
   PubMed 14251649