Publications

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

190 publications found

Publications 2019

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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, 1-9 (in press)
    DOI 10.1080/09638288.2019.1573937, PubMed 31006287
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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. 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
  17. 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
  18. Skjeldal OH (2018)
    When no cause can be found
    Tidsskr Nor Laegeforen, 138 (13)
    DOI 10.4045/tidsskr.18.0598, PubMed 30180483
  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. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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

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. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  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. 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

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 (7), 711
    DOI 10.1002/humu.22997, PubMed 27300082
  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 (4), 359-63
    DOI 10.1002/humu.22960, PubMed 26820108
  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. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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

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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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

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. 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, 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  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. 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
  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. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  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)
    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
  6. 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
  7. Gjone H (2010)
    Chronic fatigue could be a marker of ADHD in children and adolescents
    Acta Paediatr., 99 (1), 5-6
  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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