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Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Jensen SM, Müller KI, Mellgren SI, Bindoff LA, Rasmussen M, Ørstavik K, Jonsrud C, Tveten K, Nilssen Ø, Van Ghelue M, Arntzen KA. Jensen SM, et al. Among authors: rasmussen m. Neuromuscul Disord. 2023 Feb;33(2):119-132. doi: 10.1016/j.nmd.2022.11.005. Epub 2022 Nov 25. Neuromuscul Disord. 2023. PMID: 36522254 Free article.
Duchenne muscular dystrophy.
Annexstad EJ, Lund-Petersen I, Rasmussen M. Annexstad EJ, et al. Among authors: rasmussen m. Tidsskr Nor Laegeforen. 2014 Aug 5;134(14):1361-4. doi: 10.4045/tidsskr.13.0836. eCollection 2014 Aug 5. Tidsskr Nor Laegeforen. 2014. PMID: 25096430 Free article. Review. English, Norwegian.
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P. Pedurupillay CR, et al. Among authors: rasmussen m. Neuromuscul Disord. 2016 Sep;26(9):570-5. doi: 10.1016/j.nmd.2016.06.457. Epub 2016 Jun 22. Neuromuscul Disord. 2016. PMID: 27450922 Free article.
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
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, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Zaharieva IT, et al. Among authors: rasmussen m. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22. Brain. 2016. PMID: 26700687 Free PMC article.
A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia.
Ørstavik K, Wallace SC, Torbergsen T, Abicht A, Erik Tangsrud S, Kerty E, Rasmussen M. Ørstavik K, et al. Among authors: rasmussen m. J Neuromuscul Dis. 2015 Jun 4;2(2):181-184. doi: 10.3233/JND-150069. J Neuromuscul Dis. 2015. PMID: 27858731 Free PMC article.
[Juvenile-onset muscular diseases].
Aden P, Annexstad EJ, Lien E, Tajsic JM, Mjellem N, Rasmussen M. Aden P, et al. Among authors: rasmussen m. Tidsskr Nor Laegeforen. 2017 Jan 24;137(2):108-111. doi: 10.4045/tidsskr.16.0623. eCollection 2017 Jan. Tidsskr Nor Laegeforen. 2017. PMID: 28127073 Free article. Review. Norwegian.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
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, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. Among authors: rasmussen m. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
2,063 results