Publications RND research group

Publications 2024

  1. Gilhus NE, Andersen H, Andersen LK, Boldingh M, Laakso S, Leopoldsdottir MO, Madsen S, Piehl F, Popperud TH, Punga AR, Schirakow L, Vissing J (2024)
    Generalized myasthenia gravis with acetylcholine receptor antibodies: A guidance for treatment
    Eur J Neurol, 31 (5), e16229
    DOI 10.1111/ene.16229, PubMed 38321574
  2. Gombaut C, Bakovic M, Tran HV, Goldman J, Wallace S, Ranganath B (2024)
    Simultaneous Free Flap Breast Reconstruction Combined With Contralateral Mastopexy or Breast Reduction: A Propensity-Matched National Surgical Quality Improvement Program Study on Postoperative Outcomes
    Ann Plast Surg, 92 (4S Suppl 2), S234-S240
    DOI 10.1097/SAP.0000000000003816, PubMed 38556680
  3. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Ortigoza-Escobar JD, Tangeraas T, Berland S, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Bindoff LA (2024)
    Status epilepticus in POLG disease: a large multinational study
    J Neurol (in press)
    DOI 10.1007/s00415-024-12463-5, PubMed 38822839
  4. Kirschner J, Bernert G, Butoianu N, De Waele L, Fattal-Valevski A, Haberlova J, Moreno T, Klein A, Kostera-Pruszczyk A, Mercuri E, Quijano-Roy S, Sejersen T, Tizzano EF, van der Pol WL, Wallace S, Zafeiriou D, Ziegler A, Muntoni F, Servais L (2024)
    2024 update: European consensus statement on gene therapy for spinal muscular atrophy
    Eur J Paediatr Neurol, 51, 73-78 (in press)
    DOI 10.1016/j.ejpn.2024.06.001, PubMed 38878702
  5. Kristensen E, Mathisen L, Berland S, Klingenberg C, Brodtkorb E, Rasmussen M, Tangeraas T, Bliksrud YT, Rahman S, Bindoff LA, Hikmat O (2024)
    Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
    Ann Clin Transl Neurol, 11 (7), 1819-1830
    DOI 10.1002/acn3.52088, PubMed 38845467
  6. Solbakken G, Løseth S, Frich JC, Dietrichs E, Ørstavik K (2024)
    Small and large fiber neuropathy in adults with myotonic dystrophy type 1
    Front Neurol, 15, 1375218
    DOI 10.3389/fneur.2024.1375218, PubMed 38504800
  7. Ørstavik K, Rosenberger AD, Fossmo HL, Nordstrøm M, de Visser M (2024)
    Multidisciplinary management and care in rare neuromuscular disorders: A call for action
    Eur J Neurol, 31 (6), e16265
    DOI 10.1111/ene.16265, PubMed 38425128
  8. Ørstavik K, Solbakken G, Rasmussen M, Sanaker PS, Fossmo HL, Bryne E, Knutsen-Øy T, Elgsås T, Heiberg A (2024)
    Myotonic dystrophy type 1 - a multiorgan disorder
    Tidsskr Nor Laegeforen, 144 (5)
    DOI 10.4045/tidsskr.23.0687, PubMed 38651711
  9. Ørstavik K, Solbakken G, Rasmussen M, Sanaker PS, Fossmo HL, Bryne E, Knutsen-Øy T, Elgsås T, Heiberg A (2024)
    [Not Available]
    Tidsskr Nor Laegeforen, 144
    DOI 10.4045/tidsskr.24.0236, PubMed 38738573

Publications 2023

  1. Aden P, Skarbø AB, Wallace S, Ørstavik K, Rasmussen M (2023)
    Cognitive function, behaviour and quality of life in children with myotonic dystrophy type 1 in South - Eastern Norway
    Eur J Paediatr Neurol, 45, 1-6
    DOI 10.1016/j.ejpn.2023.05.004, PubMed 37209486
  2. Dunker Ø, U Lie M, Andries A, Nilsen KB, Omland P, Reiner A, Tannemaat MR, Reijntjes RH, Jabre JF (2023)
    The future is data-driven: A call to clinical neurophysiology laboratories to standardize your NCS data
    Clin Neurophysiol Pract, 8, 111-112
    DOI 10.1016/j.cnp.2023.05.002, PubMed 38152243
  3. Fossmo HL, Ørstavik K, Frich JC, Robinson HS (2023)
    Translation, reliability, and validity of the Norwegian version of the ABILHAND-NMD and the ACTIVLIM for Myotonic Dystrophy type 1
    Disabil Rehabil, 46 (12), 2699-2707
    DOI 10.1080/09638288.2023.2231848, PubMed 37438996
  4. Hope S, Nærland T, Olav Kolset S, Ueland T, Andreassen OA, Nordstrøm M (2023)
    Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced macrophage inhibitory factor
    Orphanet J Rare Dis, 18 (1), 185
    DOI 10.1186/s13023-023-02730-5, PubMed 37430349
  5. Mansour A, Steele A, Terrasse W, Butte Z, Kincaid H, Wallace S, Miller N, Miles M, Wojcik R, Murphy RX (2023)
    Incidence of Complications Associated With Lipectomy Techniques and Patient Body Mass Index: An Institutional and National Analysis Using the Tracking Operations and Outcomes for Plastic Surgeons
    Ann Plast Surg, 90 (6S Suppl 5), S526-S532
    DOI 10.1097/SAP.0000000000003532, PubMed 36921329
  6. Mühlbӓck A, van Walsem M, Nance M, Arnesen A, Page K, Fisher A, van Kampen M, Nuzzi A, Limpert R, Fossmo HL, Cruickshank T, Veenhuizen R, Multidisciplinary Care and Treatment Working Group of the European Huntington’s Disease Network (2023)
    What we don't need to prove but need to do in multidisciplinary treatment and care in Huntington's disease: a position paper
    Orphanet J Rare Dis, 18 (1), 19
    DOI 10.1186/s13023-023-02622-8, PubMed 36717864
  7. Rasmussen M, Wallace S, Ørstavik K, Popperud T, Ramm-Pettersen A, Førde R (2023)
    [Start and stop criteria for very costly medicines – the example of spinal muscular atrophy]
    Tidsskr Nor Laegeforen, 143 (14)
    DOI 10.4045/tidsskr.23.0346, PubMed 37830969
  8. Renzi D, Stanley T, Waxler J, Lee H, Pober B, Nordstrom M (2023)
    Body mass index variation in adults with Williams syndrome: associations with predicted dietary intake and food behaviors
    Food Nutr Res, 67
    DOI 10.29219/fnr.v67.9321, PubMed 37441515
  9. Røstad-Tollefsen HK, Kolset SO, Retterstøl K, Hesselberg H, Nordstrøm M (2023)
    Weight reduction and dietary improvements in a cluster-randomised controlled trial for adults with intellectual disabilities
    Food Nutr Res, 67
    DOI 10.29219/fnr.v67.9505, PubMed 38187792
  10. Ørstavik K (2023)
    Neuropathic pain - Still a challenge to assess
    Eur J Neurol, 30 (8), 2139-2140
    DOI 10.1111/ene.15889, PubMed 37218369

Publications 2022

  1. Andries A, Van Walsem MR, Ørstavik K, Frich JC (2022)
    Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases
    J Neuromuscul Dis, 9 (3), 437-446
    DOI 10.3233/JND-210677, PubMed 35180128
  2. Andries A, Ørstavik K, Rueegg CS, Eng S, Edvardsen E, Allen SM, Torsvik IK, Raastad T, Ruud E, Nilsen KB (2022)
    Polyneuropathy in Adolescent Childhood Cancer Survivors: The PACCS Study
    Pediatr Neurol, 140, 9-17
    DOI 10.1016/j.pediatrneurol.2022.11.012, PubMed 36586183
  3. Frič R, Sorteberg A, Wallace S, Alonso AS, Due-Tønnessen BJ, Wiedmann M (2022)
    [Moyamoya disease in children]
    Tidsskr Nor Laegeforen, 142 (13)
    DOI 10.4045/tidsskr.21.0776, PubMed 36164799
  4. Jensen SM, Müller KI, Mellgren SI, Bindoff LA, Rasmussen M, Ørstavik K, Jonsrud C, Tveten K, Nilssen Ø, Van Ghelue M, Arntzen KA (2022)
    Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
    Neuromuscul Disord, 33 (2), 119-132
    DOI 10.1016/j.nmd.2022.11.005, PubMed 36522254
  5. Lie HC, Anderssen S, Rueegg CS, Raastad T, Grydeland M, Thorsen L, Stensrud T, Edvardsen E, Larsen MH, Torsvik IK, Bovim LP, Götte M, Lähteenmäki PM, Kriemler S, Larsen HB, Fridh MK, Ørstavik K, Brun H, Matthews I, Hornset E, Ruud E (2022)
    The Physical Activity and Fitness in Childhood Cancer Survivors (PACCS) Study: Protocol for an International Mixed Methods Study
    JMIR Res Protoc, 11 (3), e35838
    DOI 10.2196/35838, PubMed 35258456
  6. Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K (2022)
    A woman in her fifties with chronic muscle weakness
    Tidsskr Nor Laegeforen, 142 (1)
    DOI 10.4045/tidsskr.21.0038, PubMed 35026081
  7. Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K (2022)
    [Correction: A woman in her fifties with chronic muscle weakness]
    Tidsskr Nor Laegeforen, 142 (2)
    DOI 10.4045/tidsskr.22.0032, PubMed 35107936
  8. Ørstavik K, Arntzen KA, Mathisen P, Backe PH, Tangeraas T, Rasmussen M, Kristensen E, Van Ghelue M, Jonsrud C, Bliksrud YT (2022)
    Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
    JIMD Rep, 63 (3), 193-198
    DOI 10.1002/jmd2.12276, PubMed 35433169

Publications 2021

  1. 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
  2. Pihlstrøm HK, Weedon-Fekjær MS, Bjerkely BL, von der Lippe C, Ørstavik K, Mathisen P, Heimdal K, Jenssen TG, Dahle DO, Solberg OK, Sigurdardottir S (2021)
    Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress
    JIMD Rep, 62 (1), 56-69
    DOI 10.1002/jmd2.12240, PubMed 34765399
  3. Popperud TH, Gul KA, Brunborg C, Olaussen RW, Abrahamsen TG, Osnes LT, Kerty E (2021)
    Thymectomy in Juvenile Myasthenia Gravis Is Safe Regarding Long Term Immunological Effects
    Front Neurol, 12, 596859
    DOI 10.3389/fneur.2021.596859, PubMed 33716918
  4. Sigurdardottir S, Bjerkely B, Jenssen TG, Mathisen P, von der Lippe C, Ørstavik K, Heimdal K, Dahle DO, Weedon-Fekjær MS, Solberg O, Pihlstrøm HK (2021)
    The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
    Orphanet J Rare Dis, 16 (1), 427
    DOI 10.1186/s13023-021-02066-y, PubMed 34641933
  5. Solbakken G, Løseth S, Froholdt A, Eikeland TD, Nærland T, Frich JC, Dietrichs E, Ørstavik K (2021)
    Pain in adult myotonic dystrophy type 1: relation to function and gender
    BMC Neurol, 21 (1), 101
    DOI 10.1186/s12883-021-02124-9, PubMed 33663406
  6. Welland NL, Hæstad H, Fossmo HL, Giltvedt K, Ørstavik K, Nordstrøm M (2021)
    The Role of Nutrition and Physical Activity as Trigger Factors of Paralytic Attacks in Primary Periodic Paralysis
    J Neuromuscul Dis, 8 (4), 457-468
    DOI 10.3233/JND-200604, PubMed 33646174
  7. Aamodt AH, Høgestøl EA, Popperud TH, Holter JC, Dyrhol-Riise AM, Tonby K, Stiksrud B, Quist-Paulsen E, Berge T, Barratt-Due A, Aukrust P, Heggelund L, Blennow K, Zetterberg H, Harbo HF (2021)
    Blood neurofilament light concentration at admittance: a potential prognostic marker in COVID-19
    J Neurol, 268 (10), 3574-3583
    DOI 10.1007/s00415-021-10517-6, PubMed 33743046
  8. Aamodt AH, Tauboll E, Eichele T, Romundstad L, Sorteberg A, Wallace S, Fromm A, Raastad MF, Sand T, Skagen K, Eltoft A, Kefaloykos C, Frisvold SK, Nilsen KB, Carlsson M, Brathen G, Bakke I, Horn MA, Wiedmann M, Tennoe B, Totland JA, Ronning OM, Kurz M, Storstein A (2021)
    Brain monitoring in hospitals needs to be strengthened
    Tidsskr. Nor. Laegeforen., 141 (15), 1431-1433
  9. Aamodt AH, Taubøll E, Eichele T, Romundstad L, Sorteberg A, Wallace S, Fromm A, Raastad MF, Sand T, Skagen K, Eltoft A, Kefaloykos C, Frisvold SK, Nilsen KB, Carlsson M, Bråthen G, Bakke I, Horn MA, Wiedmann M, Tennøe B, Totland JA, Rønning OM, Kurz M, Storstein A (2021)
    Brain monitoring in hospitals needs to be strengthened
    Tidsskr Nor Laegeforen, 141
    DOI 10.4045/tidsskr.21.0412, PubMed 34726044

Publications 2020

  1. Andries A, van Walsem MR, Frich JC (2020)
    Self-reported physical activity in people with limb-girdle muscular dystrophy and Charcot-Marie-Tooth disease in Norway
    BMC Musculoskelet Disord, 21 (1), 235
    DOI 10.1186/s12891-020-03246-w, PubMed 32284057
  2. Broch K, Popperud T, Gude E, Fløisand Y, Antal EA, Bosse G, Jonsrud C, Hegard T, Skaara S, Elsais A (2020)
    A Middle-Aged Man Presenting With Progressive Heart Failure, Myopathy, and Monoclonal Gammopathy of Uncertain Significance
    JACC Case Rep, 2 (5), 785-789
    DOI 10.1016/j.jaccas.2020.02.024, PubMed 34317348
  3. 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
  4. 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
  5. 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
  6. Nordstrøm M, Retterstøl K, Hope S, Kolset SO (2020)
    Nutritional challenges in children and adolescents with Down syndrome
    Lancet Child Adolesc Health, 4 (6), 455-464
    DOI 10.1016/S2352-4642(19)30400-6, PubMed 32450124
  7. Orstavik K, Kirkhus E, Hovland M (2020)
    Powerful attachments in a rare condition
    Tidsskr. Nor. Laegeforen., 140 (16), 1671
  8. Røstad-Tollefsen HK, Kolset SO, Retterstøl K, Hesselberg H, Nordstrøm M (2020)
    Factors influencing the opportunities of supporting staff to promote a healthy diet in adults with intellectual disabilities
    J Appl Res Intellect Disabil, 34 (3), 733-741
    DOI 10.1111/jar.12846, PubMed 33274594
  9. Ørstavik K, Kirkhus E, Hovland M (2020)
    [Hypertrophic calves in a rare condition]
    Tidsskr Nor Laegeforen, 140 (16)
    DOI 10.4045/tidsskr.20.0505, PubMed 33172251

Publications 2019

  1. Allen SM, Bédos Ulvin L, Sabel W, Popperud TH, Ørstavik K (2019)
    A painful foot with diagnostic and therapeutic consequences
    Scand J Pain, 19 (3), 615-618
    DOI 10.1515/sjpain-2019-0015, PubMed 31120861
  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. Miall RC, Rosenthal O, Ørstavik K, Cole JD, Sarlegna FR (2019)
    Loss of haptic feedback impairs control of hand posture: a study in chronically deafferented individuals when grasping and lifting objects
    Exp Brain Res, 237 (9), 2167-2184
    DOI 10.1007/s00221-019-05583-2, PubMed 31209510
  5. Orstavik K (2019)
    Oliver Sacks- about remorse, neurologist joy and empathy
    Tidsskr. Nor. Laegeforen., 139 (7), 637-640
  6. Solbakken G, Bjørnarå B, Kirkhus E, Nguyen B, Hansen G, Frich JC, Ørstavik K (2019)
    MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1
    BMC Neurol, 19 (1), 135
    DOI 10.1186/s12883-019-1357-8, PubMed 31216995
  7. 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
  8. 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
  9. Ørstavik K (2019)
    [Oliver Sacks – on regret, the joys of neuroscience literature, and empathy]
    Tidsskr Nor Laegeforen, 139 (7)
    DOI 10.4045/tidsskr.18.0663, PubMed 30969042

Publications 2018

  1. Arntzen KA, Høyer H, Ørstavik K, Tallaksen C, Vedeler C, Østern R, Nebuchennykh M, Braathen GJ, Fagerheim T (2018)
    Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
    Neuromuscul Disord, 28 (8), 639-645
    DOI 10.1016/j.nmd.2018.06.004, PubMed 30001926
  2. Fossmo HL, Holtebekk E, Giltvedt K, Dybesland AR, Sanaker PS, Ørstavik K (2018)
    Physical exercise in adults with hereditary neuromuscular disease
    Tidsskr Nor Laegeforen, 138 (11)
    DOI 10.4045/tidsskr.17.1024, PubMed 29947206
  3. 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
  4. 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
  5. 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
  6. Hope S, Nordstrom M, Retterstol K, Iversen PO, Kolset SO (2018)
    The right to a health promoting diet for people with intellectual disabilities
    Tidsskr. Nor. Laegeforen., 138 (2), 122-123
  7. Hope S, Nordstrøm M, Retterstøl K, Iversen PO, Kolset SO (2018)
    The right to a health-promoting diet for people with intellectual disabilities
    Tidsskr Nor Laegeforen, 138 (2)
    DOI 10.4045/tidsskr.17.0985, PubMed 29357630
  8. 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
  9. Jensen SM, Arntzen KA, Ørstavik K, Rasmussen M, Bindoff LA (2018)
    [Not Available]
    Tidsskr Nor Laegeforen, 138 (15)
    DOI 10.4045/tidsskr.18.0630, PubMed 30277043
  10. Kleggetveit IP, Loseth S, Orstavik K, Eichele T (2018)
    Clinical neurophysiology on suspicion of botulism
    Tidsskr. Nor. Laegeforen., 138 (9), 800
  11. Kleggetveit IP, Løseth S, Ørstavik K, Eichele T (2018)
    [Not Available]
    Tidsskr Nor Laegeforen, 138 (9)
    DOI 10.4045/tidsskr.18.0373, PubMed 29808649
  12. Kolset SO, Nordstrøm M, Hope S, Retterstøl K, Iversen PO (2018)
    Securing rights and nutritional health for persons with intellectual disabilities - a pressing challenge
    Food Nutr Res, 62
    DOI 10.29219/fnr.v62.1268, PubMed 29899685
  13. Miall RC, Kitchen NM, Nam SH, Lefumat H, Renault AG, Ørstavik K, Cole JD, Sarlegna FR (2018)
    Proprioceptive loss and the perception, control and learning of arm movements in humans: evidence from sensory neuronopathy
    Exp Brain Res, 236 (8), 2137-2155
    DOI 10.1007/s00221-018-5289-0, PubMed 29779050
  14. Oyen AS, Ulleberg B, Sangar P, Wallace S, Holmstrom H (2018)
    Early efforts are important in behavioural difficulties in children Reply
    Tidsskr. Nor. Laegeforen., 138 (1), 16
  15. 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
  16. Solheim O, Skalleberg J, Warncke T, Ørstavik K, Tropé C, Fosså SD (2018)
    Long-term neurotoxicity and Raynaud's phenomenon in patients treated with cisplatin-based chemotherapy for malignant ovarian germ cell tumor
    Acta Obstet Gynecol Scand, 98 (2), 240-249
    DOI 10.1111/aogs.13477, PubMed 30289161
  17. van Walsem MR, Piira A, Mikalsen G, Fossmo HL, Howe EI, Knutsen SF, Frich JC (2018)
    Cognitive Performance After a One-Year Multidisciplinary Intensive Rehabilitation Program for Huntington's Disease: An Observational Study
    J Huntingtons Dis, 7 (4), 379-389
    DOI 10.3233/JHD-180294, PubMed 30320595
  18. Ørstavik K, Rasmussen M, Arntzen KA, Bindoff LA (2018)
    [Not Available]
    Tidsskr Nor Laegeforen, 138 (14)
    DOI 10.4045/tidsskr.18.0580, PubMed 30234257
  19. Øyen AS, Ulleberg B, Sangar P, Wallace S, Holmstrøm H (2018)
    [Not Available]
    Tidsskr Nor Laegeforen, 138 (1)
    DOI 10.4045/tidsskr.17.1091, PubMed 29313605

Publications 2017

  1. Aden P, Annexstad EJ, Lien E, Tajsic JM, Mjellem N, Rasmussen M (2017)
    [Juvenile-onset muscular diseases]
    Tidsskr Nor Laegeforen, 137 (2), 108-111
    DOI 10.4045/tidsskr.16.0623, PubMed 28127073
  2. 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
  3. Haug MK, Willumsen J, Fossmo HL (2017)
    [Do you know the secret services?]
    Tidsskr Nor Laegeforen, 137 (22)
    DOI 10.4045/tidsskr.17.0882, PubMed 29181926
  4. Haug MK, Willumsen J, Fossmo HL (2017)
    Do you know the secret services?
    Tidsskr. Nor. Laegeforen., 137 (22), 1768
  5. 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
  6. Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS (2017)
    An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    Mol Genet Metab, 122 (4), 182-188
    DOI 10.1016/j.ymgme.2017.10.014, PubMed 29122468
  7. Orstavik K, Garfelt B, Leren TP, Saberniak J, Haugaa K, Jonsrud C (2017)
    A 50 year old man with proximal power failure and heart disease
    Tidsskr. Nor. Laegeforen., 137 (16), 1206-1209
  8. Oyen AS, Ulleberg B, Sangar P, Wallace S, Holmstrom H (2017)
    A boy with heart failure and behavioral disorders
    Tidsskr. Nor. Laegeforen., 137 (20), 1611-1613
  9. 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
  10. Popperud TH, Viken MK, Kerty E, Lie BA (2017)
    Juvenile myasthenia gravis in Norway: HLA-DRB1*04:04 is positively associated with prepubertal onset
    PLoS One, 12 (10), e0186383
    DOI 10.1371/journal.pone.0186383, PubMed 29036181
  11. 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
  12. Skjeldal OH, Rasmussen M, Barlinn J, Ramstad K, Strømme P, Sandvig I, Selberg T (2017)
    [Not Available]
    Tidsskr Nor Laegeforen, 137 (14-15)
    DOI 10.4045/tidsskr.17.0519, PubMed 28828824
  13. Steinholt M, Engjom H, Annexstad E, Moksnes KE, Abraham R, Kvaal B (2017)
    [Human rights, climate and global health in the Medical Association]
    Tidsskr Nor Laegeforen, 137 (6), 432
    DOI 10.4045/tidsskr.17.0092, PubMed 28332792
  14. Ørstavik K, Garfelt B, Leren TP, Saberniak J, Haugaa K, Jonsrud C (2017)
    [A 50-year-old man with proximal pareses and heart disease]
    Tidsskr Nor Laegeforen, 137 (16)
    DOI 10.4045/tidsskr.16.0789, PubMed 28871726
  15. Øyen AS, Ulleberg B, Sangar P, Wallace S, Holmstrøm H (2017)
    [A boy with heart defects and behavioral problems]
    Tidsskr Nor Laegeforen, 137 (20)
    DOI 10.4045/tidsskr.17.0198, PubMed 29094549

Publications 2016

  1. Arntzen KA, Lund I, Rasmussen M, Rønningen KE, Torp TI, Ørstavik K (2016)
    [Together for patients with hereditary neuromuscular conditions]
    Tidsskr Nor Laegeforen, 136 (14-15), 1198-9
    DOI 10.4045/tidsskr.16.0502, PubMed 27554555
  2. Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D (2016)
    A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
    Eur J Med Genet, 59 (6-7), 342-6
    DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039
  3. Kist AM, Sagafos D, Rush AM, Neacsu C, Eberhardt E, Schmidt R, Lunden LK, Ørstavik K, Kaluza L, Meents J, Zhang Z, Carr TH, Salter H, Malinowsky D, Wollberg P, Krupp J, Kleggetveit IP, Schmelz M, Jørum E, Lampert A, Namer B (2016)
    SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing
    PLoS One, 11 (9), e0161789
    DOI 10.1371/journal.pone.0161789, PubMed 27598514
  4. Loseth S, Mellgren SI, Braekken SK, Orstavik K (2016)
    OBITUARY Torberg Torbergsen
    Tidsskr. Nor. Laegeforen., 136 (1), 62
  5. Nordstrom M, Paus B, Retterstol K, Kolset SO (2016)
    The prevalence of metabolic risk factors of atherosclerotic cardiovascular disease in Williams syndrome, Prader-Willi syndrome, and Down syndrome
    J. Intellect. Dev. Dis., 41 (3), 187-196
    DOI 10.3109/13668250.2016.1167845
  6. 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
  7. 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
  8. 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
  9. Solbakken G, Ørstavik K, Hagen T, Dietrichs E, Naerland T (2016)
    Major involvement of trunk muscles in myotonic dystrophy type 1
    Acta Neurol Scand, 134 (6), 467-473
    DOI 10.1111/ane.12565, PubMed 26984572
  10. Solbakken G, Ørstavik K, Hagen T, Dietrichs E, Nærland T (2016)
    Major involvement of trunk muscles in myotonic dystrophy type 1
    Acta Neurologica Scandinavica, 1, 1-7
    DOI 10.1111/ane.12565, PublikaID 229
  11. Wallace S, Døhlen G, Holmstrøm H, Lund C, Russell D (2016)
    Cerebral Microemboli Detection and Differentiation During Transcatheter Closure of Patent Ductus Arteriosus
    Pediatr Cardiol, 37 (6), 1141-7
    DOI 10.1007/s00246-016-1410-y, PubMed 27229332

Publications 2015

  1. Boldingh MI, Maniaol AH, Brunborg C, Dekker L, Heldal AT, Lipka AF, Popperud TH, Niks EH, Verschuuren JJ, Tallaksen CM (2015)
    Geographical Distribution of Myasthenia Gravis in Northern Europe--Results from a Population-Based Study from Two Countries
    Neuroepidemiology, 44 (4), 221-31
    DOI 10.1159/000431036, PubMed 26068011
  2. 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
  3. 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
  4. Halvorsen JA, Ørstavik K (2015)
    [A woman in her 60s with itching arms]
    Tidsskr Nor Laegeforen, 135 (16), 1459-61
    DOI 10.4045/tidsskr.15.0223, PubMed 26356457
  5. Halvorsen JA, Ørstavik K (2015)
    [J.A. Halvorsen & K. Ørstavik reply]
    Tidsskr Nor Laegeforen, 135 (20), 1816
    DOI 10.4045/tidsskr.15.1077, PubMed 26534802
  6. Hughes J, Isaakidis P, Andries A, Mansoor H, Cox V, Meintjes G, Cox H (2015)
    Linezolid for multidrug-resistant tuberculosis in HIV-infected and -uninfected patients
    Eur Respir J, 46 (1), 271-4
    DOI 10.1183/09031936.00188114, PubMed 25837033
  7. Hughes J, Isaakidis P, Andries A, Mansoor H, Cox V, Meintjes G, Cox H (2015)
    Linezolid in drug-resistant tuberculosis: haste makes waste
    Eur Respir J, 46 (6), 1844-6
    DOI 10.1183/13993003.01374-2015, PubMed 26621892
  8. Namer B, Ørstavik K, Schmidt R, Kleggetveit IP, Weidner C, Mørk C, Kvernebo MS, Kvernebo K, Salter H, Carr TH, Segerdahl M, Quiding H, Waxman SG, Handwerker HO, Torebjörk HE, Jørum E, Schmelz M (2015)
    Specific changes in conduction velocity recovery cycles of single nociceptors in a patient with erythromelalgia with the I848T gain-of-function mutation of Nav1.7
    Pain, 156 (9), 1637-1646
    DOI 10.1097/j.pain.0000000000000229, PubMed 25993546
  9. Nordstrøm M, Paus B, Andersen LF, Kolset SO (2015)
    Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome
    Food Nutr Res, 59, 25487
    DOI 10.3402/fnr.v59.25487, PubMed 25653019
  10. 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
  11. 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. Khan S, Andries A, Pherwani A, Saranchuk P, Isaakidis P (2014)
    Patch-testing for the management of hypersensitivity reactions to second-line anti-tuberculosis drugs: a case report
    BMC Res Notes, 7, 537
    DOI 10.1186/1756-0500-7-537, PubMed 25128289
  3. Khan S, Das M, Andries A, Deshpande A, Mansoor H, Saranchuk P, Isaakidis P (2014)
    Second-line failure and first experience with third-line antiretroviral therapy in Mumbai, India
    Glob Health Action, 7, 24861
    DOI 10.3402/gha.v7.24861, PubMed 25084835
  4. Namer B, Schick M, Kleggetveit IP, Ørstavik K, Schmidt R, Jorum E, Torebjörk E, Handwerker H, Schmelz M (2014)
    Differential sensitization of silent nociceptors to low pH stimulation by prostaglandin E2 in human volunteers
    Eur J Pain, 19 (2), 159-66
    DOI 10.1002/ejp.532, PubMed 24890616
  5. 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
  6. Zhang Z, Schmelz M, Segerdahl M, Quiding H, Centerholt C, Juréus A, Carr TH, Whiteley J, Salter H, Kvernebo MS, Ørstavik K, Helås T, Kleggetveit IP, Lunden LK, Jørum E (2014)
    Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia
    Scand J Pain, 5 (4), 217-225
    DOI 10.1016/j.sjpain.2014.09.002, PubMed 29911575

Publications 2013

  1. Andries A, Das M, Isaakidis P, Saranchuk P (2013)
    Viral load for HIV treatment failure management: a report of eight drug-resistant tuberculosis cases co-infected with HIV requiring second-line antiretroviral treatment in Mumbai, India
    Am J Trop Med Hyg, 89 (6), 1233-1234
    DOI 10.4269/ajtmh.13-0526, PubMed 24306035
  2. Andries A, Isaakidis P, Das M, Khan S, Paryani R, Desai C, Dalal A, Mansoor H, Verma R, Fernandes D, Sotgiu G, Migliori GB, Saranchuk P (2013)
    High rate of hypothyroidism in multidrug-resistant tuberculosis patients co-infected with HIV in Mumbai, India
    PLoS One, 8 (10), e78313
    DOI 10.1371/journal.pone.0078313, PubMed 24194919
  3. Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM et al. (2013)
    'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
    Brain, 136 (Pt 4), 1146-54
    DOI 10.1093/brain/awt021, PubMed 23449775
  4. Elsais A, Popperud TH, Melien Ø, Kerty E (2013)
    [Drugs that may trigger or exacerbate myasthenia gravis]
    Tidsskr Nor Laegeforen, 133 (3), 296-9
    DOI 10.4045/tidsskr.12.0624, PubMed 23381166
  5. 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
  6. Jørum E, Warncke T, Ørstavik K (2013)
    [Small-fibre neuropathy]
    Tidsskr Nor Laegeforen, 133 (2), 179-83
    DOI 10.4045/tidsskr.12.0160, PubMed 23344604
  7. Nordstrøm M, Hansen BH, Paus B, Kolset SO (2013)
    Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome
    Res Dev Disabil, 34 (12), 4395-403
    DOI 10.1016/j.ridd.2013.09.021, PubMed 24139709
  8. 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
  9. Ørstavik K, Kleggetveit IP, Jørum E (2013)
    [Microneurography and research on peripheral neuropathic pain]
    Tidsskr Nor Laegeforen, 133 (3), 302-5
    DOI 10.4045/tidsskr.12.0098, PubMed 23381167

Publications 2012

  1. Jusufovic M, Sandset EC, Popperud TH, Solberg S, Ringstad G, Kerty E (2012)
    An unusual case of the syndrome of cervical rib with subclavian artery thrombosis and cerebellar and cerebral infarctions
    BMC Neurol, 12, 48
    DOI 10.1186/1471-2377-12-48, PubMed 22741548
  2. Kleggetveit IP, Namer B, Schmidt R, Helås T, Rückel M, Ørstavik K, Schmelz M, Jørum E (2012)
    High spontaneous activity of C-nociceptors in painful polyneuropathy
    Pain, 153 (10), 2040-2047
    DOI 10.1016/j.pain.2012.05.017, PubMed 22986070
  3. Rasmussen M, Risberg K, Vollo A, Skjeldal OH (2012)
    Neuromuscular disorders in children in South-Eastern Norway
    J. Pediatr. Neurol., 10 (2), 95-100
    DOI 10.3233/JPN-2012-0542
  4. 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
  5. Ørstavik K, Svalheim S, Gunnarsson R, Gilboe IM, Torbergsen T (2012)
    [A seriously ill patient who does not wake up after mechanical ventilation]
    Tidsskr Nor Laegeforen, 132 (7), 822-5
    DOI 10.4045/tidsskr.11.0357, PubMed 22511094
  6. Østern R, Fagerheim T, Ørstavik K, Holmøy T, Heiberg A, Lund-Petersen I, Strom TM, Nilssen Ø, Dahl A (2012)
    Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene
    Neuromuscul Disord, 22 (6), 511-21
    DOI 10.1016/j.nmd.2012.01.011, PubMed 22475618

Publications 2010

  1. Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A et al. (2010)
    Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum
    Hum Mutat, 31 (9), 992-1002
    DOI 10.1002/humu.21304, PubMed 20556798
  2. 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

Publications 2009

  1. Orstavik K, Jørum E (2009)
    Microneurographic findings of relevance to pain in patients with erythromelalgia and patients with diabetic neuropathy
    Neurosci Lett, 470 (3), 180-4
    DOI 10.1016/j.neulet.2009.05.061, PubMed 19481586
  2. 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

Publications 2008

  1. Namer B, Barta B, Ørstavik K, Schmidt R, Carr R, Schmelz M, Handwerker HO (2008)
    Microneurographic assessment of C-fibre function in aged healthy subjects
    J Physiol, 587 (2), 419-28
    DOI 10.1113/jphysiol.2008.162941, PubMed 19064617

Publications 2007

  1. Namer B, Hilliges M, Ørstavik K, Schmidt R, Weidner C, Torebjörk E, Handwerker H, Schmelz M (2007)
    Endothelin 1 activates and sensitizes human C-nociceptors
    Pain, 137 (1), 41-49
    DOI 10.1016/j.pain.2007.08.008, PubMed 17884295
  2. Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE et al. (2007)
    Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Am J Hum Genet, 81 (4), 713-25
    DOI 10.1086/521373, PubMed 17846997
  3. Wagner K, Risnes I, Berntsen T, Skarbø AB, Ramberg B, Vandvik IH, Rasmussen M, Nome T, Olsen KB, Svennevig JL (2007)
    Clinical and psychosocial follow-up study of children treated with extracorporeal membrane oxygenation
    Ann Thorac Surg, 84 (4), 1349-55
    DOI 10.1016/j.athoracsur.2007.05.019, PubMed 17888996

Publications 2006

  1. Hagemo PS, Skarbø AB, Rasmussen M, Fredriksen PM, Schage S (2006)
    An extensive long term follow-up of a cohort of patients with hypoplasia of the left heart
    Cardiol Young, 17 (1), 51-5
    DOI 10.1017/S1047951106001284, PubMed 17184572
  2. Jørum E, Ørstavik K, Schmidt R, Namer B, Carr RW, Kvarstein G, Hilliges M, Handwerker H, Torebjörk E, Schmelz M (2006)
    Catecholamine-induced excitation of nociceptors in sympathetically maintained pain
    Pain, 127 (3), 296-301
    DOI 10.1016/j.pain.2006.08.022, PubMed 16997471
  3. Ørstavik K, Namer B, Schmidt R, Schmelz M, Hilliges M, Weidner C, Carr RW, Handwerker H, Jørum E, Torebjörk HE (2006)
    Abnormal function of C-fibers in patients with diabetic neuropathy
    J Neurosci, 26 (44), 11287-94
    DOI 10.1523/JNEUROSCI.2659-06.2006, PubMed 17079656
  4. Ørstavik K, Norheim I, Jørum E (2006)
    Pain and small-fiber neuropathy in patients with hypothyroidism
    Neurology, 67 (5), 786-91
    DOI 10.1212/01.wnl.0000234035.13779.4a, PubMed 16966538

Publications 2005

  1. Rasmussen M, Sandvig I, Nustad A, Skjeldal OH (2005)
    [Infantile spasms]
    Tidsskr Nor Laegeforen, 125 (15), 2002-4
    PubMed 16100537
  2. Rasmussen M, Sandvig I, Skjeldal OH, Nustad A (2005)
    [Infantile spasms]
    Tidsskr Nor Laegeforen, 125 (16), 2248
    PubMed 16138162
  3. Rasmussen M, Skullerud K, Bakke SJ, Lebon P, Jahnsen FL (2005)
    Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters
    Neuropediatrics, 36 (1), 40-4
    DOI 10.1055/s-2004-830532, PubMed 15776321

Publications 2004

  1. Akre B, Rasmussen M, Lundby R (2004)
    [Pyridoxine-dependent seizures]
    Tidsskr Nor Laegeforen, 124 (2), 162-4
    PubMed 14743226
  2. Rasmussen M (2004)
    Carbamazepine and myasthenia gravis
    Neuropediatrics, 35 (4), 259
    DOI 10.1055/s-2004-817956, PubMed 15328570
  3. Ørstavik K, Mørk C, Kvernebo K, Jørum E (2004)
    Pain in primary erythromelalgia--a neuropathic component?
    Pain, 110 (3), 531-538
    DOI 10.1016/j.pain.2004.03.030, PubMed 15288393

Publications 2000

  1. Rasmussen M, Sanengen T, Skullerud K, Kvittingen EA, Skjeldal OH (2000)
    Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease
    J Child Neurol, 15 (7), 473-7
    DOI 10.1177/088307380001500709, PubMed 10921519

Publications 1999

  1. Rasmussen M, Kerty E (1999)
    Benign paroxysmal tonic upgaze of a child with positive MRI findings
    J Pediatr Ophthalmol Strabismus, 36 (3), 164-6
    DOI 10.3928/0191-3913-19990501-18, PubMed 10358824

Publications 1998

  1. Rasmussen M, Strømme P (1998)
    Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
    Clin Dysmorphol, 7 (1), 61-3
    PubMed 9546834

Publications 1996

  1. Dahl M, Thommessen M, Rasmussen M, Selberg T (1996)
    Feeding and nutritional characteristics in children with moderate or severe cerebral palsy
    Acta Paediatr, 85 (6), 697-701
    DOI 10.1111/j.1651-2227.1996.tb14129.x, PubMed 8816207

Publications 1995

  1. Moser AB, Rasmussen M, Naidu S, Watkins PA, McGuinness M, Hajra AK, Chen G, Raymond G, Liu A, Gordon D (1995)
    Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
    J Pediatr, 127 (1), 13-22
    DOI 10.1016/s0022-3476(95)70250-4, PubMed 7541833

Publications 1994

  1. Rasmussen M, Moser AB, Borel J, Khangoora S, Moser HW (1994)
    Brain, liver, and adipose tissue erucic and very long chain fatty acid levels in adrenoleukodystrophy patients treated with glyceryl trierucate and trioleate oils (Lorenzo's oil)
    Neurochem Res, 19 (8), 1073-82
    DOI 10.1007/BF00968719, PubMed 7800117

Publications 1993

  1. Rasmussen M, Sponheim E (1993)
    [Asperger's syndrome]
    Tidsskr Nor Laegeforen, 113 (22), 2807-10
    PubMed 7692619

Publications 1992

  1. Rasmussen M, Grøholt B, Spurkland I (1992)
    [Use of psychopharmaceuticals in child- and adolescent-outpatient practice]
    Tidsskr Nor Laegeforen, 112 (8), 1003-6
    PubMed 1553719

Publications 1989

  1. Bell H, Nilsson A, Norum KR, Pedersen LB, Raknerud N, Rasmussen M (1989)
    Retinol and retinyl esters in patients with alcoholic liver disease
    J Hepatol, 8 (1), 26-31
    DOI 10.1016/0168-8278(89)90158-x, PubMed 2921501

Publications 1986

  1. Rasmussen M, Michalsen H, Lie SO, Nilsson A, Petersen LB, Norum KR (1986)
    Intestinal retinol esterification and serum retinol in children with cystic fibrosis
    J Pediatr Gastroenterol Nutr, 5 (3), 397-403
    DOI 10.1097/00005176-198605000-00011, PubMed 3723258

Publications 1985

  1. Blomhoff R, Rasmussen M, Nilsson A, Norum KR, Berg T, Blaner WS, Kato M, Mertz JR, Goodman DS, Eriksson U (1985)
    Hepatic retinol metabolism. Distribution of retinoids, enzymes, and binding proteins in isolated rat liver cells
    J Biol Chem, 260 (25), 13560-5
    PubMed 2997171
  2. Drevon CA, Blomhoff R, Rasmussen M, Kindberg GM, Berg T, Norum KR (1985)
    Retinol esterification in cultured rat liver cells
    Biochem J, 230 (3), 617-23
    DOI 10.1042/bj2300617, PubMed 4062867
  3. Rasmussen M, Blomhoff R, Helgerud P, Solberg LA, Berg T, Norum KR (1985)
    Retinol and retinyl esters in parenchymal and nonparenchymal rat liver cell fractions after long-term administration of ethanol
    J Lipid Res, 26 (9), 1112-9
    PubMed 4067432
  4. Rasmussen M, Petersen LB, Norum KR (1985)
    Liver retinoids and retinol esterification in fetal and pregnant rats at term
    Scand J Gastroenterol, 20 (6), 696-700
    DOI 10.3109/00365528509089197, PubMed 4035289

Publications 1984

  1. Rasmussen M, Helgerud P, Petersen LB, Norum KR (1984)
    Microsomal esterification of retinol in human liver
    Acta Med Scand, 216 (4), 403-7
    DOI 10.1111/j.0954-6820.1984.tb03824.x, PubMed 6516908
  2. Rasmussen M, Petersen LB, Norum KR (1984)
    The activity of acyl CoA: retinol acyltransferase in the rat: variation with vitamin A status
    Br J Nutr, 51 (2), 245-53
    DOI 10.1079/bjn19840029, PubMed 6704372

Publications 1982

  1. Blomhoff R, Helgerud P, Rasmussen M, Berg T, Norum KR (1982)
    In vivo uptake of chylomicron [3H]retinyl ester by rat liver: evidence for retinol transfer from parenchymal to nonparenchymal cells
    Proc Natl Acad Sci U S A, 79 (23), 7326-30
    DOI 10.1073/pnas.79.23.7326, PubMed 6961410

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