Publications

Publications published since 2009 from OUS - Department of Clinical Neurosciences for Children

276 publications found

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. 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
    DOI 10.1080/09638288.2021.1907454, PubMed 33826448
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
    DOI 10.1007/s10803-021-05023-7, PubMed 33934283
  9. 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
    DOI 10.1007/s00415-021-10588-5, PubMed 34021772
  10. 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, 1-9 (in press)
    DOI 10.1017/S1047951121003188, PubMed 34387177
  11. 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, 1 (in press)
    DOI 10.1017/S1047951121003802, PubMed 34486506
  12. 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 (in press)
    DOI 10.1016/j.jpurol.2021.02.015, PubMed 33750647
  13. 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
  14. 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
  15. 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
    DOI 10.1080/09638288.2021.1894608, PubMed 33749471
  16. 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
    DOI 10.1002/jimd.12416, PubMed 34245036
  17. 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
  18. Klevberg GL, Jahnsen R, Elkjaer S, Zucknick M (2021)
    Hand use development in children with unilateral cerebral palsy
    Dev Med Child Neurol
    DOI 10.1111/dmcn.14957, PubMed 34152004
  19. 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
  20. 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
  21. 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
  22. 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
    DOI 10.1111/dmcn.15040, PubMed 34448501
  23. 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
  24. 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
    DOI 10.1080/09638288.2021.1921060, PubMed 34000938
  25. 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
    DOI 10.1080/11038128.2021.1903989, PubMed 33820493
  26. 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
  27. 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
  28. 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
    DOI 10.1111/apa.15875, PubMed 33848371
  29. 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, Avon), 84, 105336
    DOI 10.1016/j.clinbiomech.2021.105336, PubMed 33848706
  30. 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
  31. Steinhardt F, Dolva AS, Jahnsen R, Ullenhag A (2021)
    Exploring two subdimensions of participation, involvement and engagement: A scoping review
    Scand J Occup Ther
    DOI 10.1080/11038128.2021.1950207, PubMed 34242105
  32. Strømme P (2021)
    Angry puppet - a neurological syndrome in crime fiction
    Tidsskr Nor Laegeforen, 141 (5)
    DOI 10.4045/tidsskr.20.0729, PubMed 33754662
  33. 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
  34. 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

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, 1403494820974564
    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)
    Challenges and facilitators in supporting sustainable participation after rehabilitation: Experiences of immigrant parents and their children with disabilities
    Scand J Occup Ther
    DOI 10.1080/11038128.2020.1856183, PubMed 33300814
  4. 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
  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. 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
  17. 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
  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. 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
  23. 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 (in press)
    DOI 10.1016/j.jpedsurg.2020.10.029, PubMed 33223226
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
    DOI 10.1080/13854046.2020.1794045, PubMed 32729777
  30. 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
  31. 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
  32. 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
  33. 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 (in press)
    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)
    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
  9. 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
  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. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. Ørstavik K, Rasmussen M, Arntzen KA, Bindoff LA (2018)
    Økt behov for fysioterapeuter med nevromuskulær kompetanse
    Tidsskr Nor Laegeforen, 138 (14)
    DOI 10.4045/tidsskr.18.0580, PubMed 30234257
  17. 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
  18. 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
  19. 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
  20. Skjeldal OH (2018)
    When no cause can be found
    Tidsskr Nor Laegeforen, 138 (13)
    DOI 10.4045/tidsskr.18.0598, PubMed 30180483
  21. 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
  22. 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
  23. 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 (VO2peak ), quality of life, and mental health after pediatric renal transplantation
    Pediatr Transplant, 22 (6), e13242
    DOI 10.1111/petr.13242, PubMed 29921004
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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

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. 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
  4. 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
  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. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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

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. 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
  10. 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
  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. 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
  13. 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
  14. 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
  15. 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
  16. 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

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)
    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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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. 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
  8. 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
  9. 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
  10. 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
  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. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. Skjeldal OH (2009)
    [Determination of disability compensation--a difficult matter]
    Tidsskr Nor Laegeforen, 129 (13), 1354
    DOI 10.4045/tidsskr.09.0557, PubMed 19561675
  18. 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
  19. 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
  20. 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
  21. 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
 
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