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Neuromuscular involvement in various types of Ehlers-Danlos syndrome.
Voermans NC, van Alfen N, Pillen S, Lammens M, Schalkwijk J, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG. Voermans NC, et al. Among authors: van rooij ia, van alfen n, van engelen bg. Ann Neurol. 2009 Jun;65(6):687-97. doi: 10.1002/ana.21643. Ann Neurol. 2009. PMID: 19557868
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.
Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H. Dlamini N, et al. Neuromuscul Disord. 2013 Jul;23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. Epub 2013 Apr 28. Neuromuscul Disord. 2013. PMID: 23628358
Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients.
van Kleef ESB, Bouman K, Molenaar JPF, Küsters B, Groothuis JT, Olivé M, Malfatti E, Kamsteeg EJ, Van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: van engelen bgm. Neurol Genet. 2024 Dec 5;10(6):e200214. doi: 10.1212/NXG.0000000000200214. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39651462 Free PMC article.
Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy.
Franken M, van der Wal E, Zheng D, den Hamer B, van der Vliet PJ, Lemmers RJLF, van den Heuvel A, Dorn AL, Duivenvoorden CGA, In't Groen SLM, Freund C, Eussen B, Tawil R, van Engelen BGM, Pijnappel PWWMP, van der Maarel SM, de Greef JC. Franken M, et al. Among authors: van engelen bgm. Brain. 2024 Nov 18:awae379. doi: 10.1093/brain/awae379. Online ahead of print. Brain. 2024. PMID: 39556762
A 5-year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials.
Kools J, Vincenten S, van Engelen BGM, Voet NBM, Merkies I, Horlings CGC, Voermans NC, Mul K. Kools J, et al. Among authors: van engelen bgm. Muscle Nerve. 2025 Jan;71(1):55-62. doi: 10.1002/mus.28293. Epub 2024 Nov 7. Muscle Nerve. 2025. PMID: 39508285 Free PMC article.
515 results