Magnhild Rasmussen

  • Pediatric neurologist; MD

Primary Investigator and head of the RND groups pediatric research

 

Publications 2020

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

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

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 (in press)
DOI 10.1016/j.mito.2020.09.005, PubMed 32976988

Publications 2019

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

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

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

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

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

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

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

Jensen SM, Arntzen KA, Ørstavik K, Rasmussen M, Bindoff LA (2018)
Felles løft for pasienter med nevromuskulære sykdommer
Tidsskr Nor Laegeforen, 138 (15)
DOI 10.4045/tidsskr.18.0630, PubMed 30277043

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

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

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

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

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

Skjeldal OH, Rasmussen M, Barlinn J, Ramstad K, Strømme P, Sandvig I, Selberg T (2017)
Minneord: Ruth Bostad
Tidsskr Nor Laegeforen, 137 (14-15)
DOI 10.4045/tidsskr.17.0519, PubMed 28828824

Publications 2016

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

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

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

Publications 2015

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

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

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

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

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

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

Publications 2013

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

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

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

Publications 2012

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

Publications 2010

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

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 2007

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

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

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

Publications 2005

Rasmussen M, Sandvig I, Nustad A, Skjeldal OH (2005)
[Infantile spasms]
Tidsskr Nor Laegeforen, 125 (15), 2002-4
PubMed 16100537

Rasmussen M, Sandvig I, Skjeldal OH, Nustad A (2005)
[Infantile spasms]
Tidsskr Nor Laegeforen, 125 (16), 2248
PubMed 16138162

Publications 2004

Akre B, Rasmussen M, Lundby R (2004)
[Pyridoxine-dependent seizures]
Tidsskr Nor Laegeforen, 124 (2), 162-4
PubMed 14743226

Publications 2002

Rasmussen M, Tvedt B (2002)
Cerebral parese
In Hjerne og atferd: utviklingsforstyrrelser hos barn og ungdom i et nevrobiologisk perspektiv -et skritt videre, Gyldendal Akademisk, Oslo, s. 304-332
BIBSYS 040869660

Publications 1986

Rasmussen M (1986)
Studies on retinol metabolism: esterification and liver storage
The Norwegian Cancer Society, Oslo, 1 b. (flere pag.)
BIBSYS 862041082, ISBN 82-90187-17-3

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