Magnhild Rasmussen

  • Pediatric neurologist; MD

Primary Investigator and head of the RND groups pediatric research

 

Publications 2021

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

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
DOI 10.1016/j.mito.2020.09.005, PubMed 32976988

Publications 2019

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

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

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

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

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

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

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

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

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

Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N et al. (2015)
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Brain, 139 (Pt 3), 674-91
DOI 10.1093/brain/awv352, PubMed 26700687

Publications 2014

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

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

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

Rasmussen M (2004)
Carbamazepine and myasthenia gravis
Neuropediatrics, 35 (4), 259
DOI 10.1055/s-2004-817956, PubMed 15328570

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 2000

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

Rasmussen M, Kerty E (1999)
Benign paroxysmal tonic upgaze of a child with positive MRI findings
J Pediatr Ophthalmol Strabismus, 36 (3), 164-6
PubMed 10358824

Publications 1998

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

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

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

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

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

Publications 1992

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

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

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

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

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

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

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

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

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

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

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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