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268 results

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Page 1
Neuromuscular features in Marfan syndrome.
Voermans Nc, Timmermans J, van Alfen N, Pillen S, op den Akker J, Lammens M, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG. Voermans Nc, et al. Clin Genet. 2009 Jul;76(1):25-37. doi: 10.1111/j.1399-0004.2009.01197.x. Clin Genet. 2009. PMID: 19659760
Intravenous immunoglobulin and intravenous methylprednisolone as optimal induction treatment in chronic inflammatory demyelinating polyradiculoneuropathy: protocol of an international, randomised, double-blind, placebo-controlled trial (OPTIC).
Bus SRM, Zambreanu L, Abbas A, Rajabally YA, Hadden RDM, de Haan RJ, de Borgie CAJM, Lunn MP, van Schaik IN, Eftimov F; OPTIC study group. Bus SRM, et al. Trials. 2021 Feb 19;22(1):155. doi: 10.1186/s13063-021-05083-1. Trials. 2021. PMID: 33608058 Free PMC article.
Oral ribose supplementation in dystroglycanopathy: A single case study.
Thewissen RMJ, Post MA, Maas DM, Veizaj R, Wagenaar I, Alsady M, Kools J, Bouman K, Zweers H, Meregalli PG, van der Kooi AJ, van Doorn PA, Groothuis JT, Lefeber DJ, Voermans NC. Thewissen RMJ, et al. Among authors: voermans nc. JIMD Rep. 2024 Mar 4;65(3):171-181. doi: 10.1002/jmd2.12394. eCollection 2024 May. JIMD Rep. 2024. PMID: 38736632 Free PMC article.
Pathogenicity assessment of seven RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia in the Netherlands.
van den Bersselaar LR, Schiemann AH, Yang CY, Voermans NC, Malagon I, Scheffer GJ, Bjorksten AR, Gillies R, Hellblom A, Kamsteeg EJ, Snoeck MMJ, Stowell KM. van den Bersselaar LR, et al. Among authors: voermans nc. Br J Anaesth. 2025 Jan 30:S0007-0912(24)00773-6. doi: 10.1016/j.bja.2024.11.043. Online ahead of print. Br J Anaesth. 2025. PMID: 39890490 Free article.
Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations.
Vincenten SCC, Teeselink S, Mul K, Heskamp L, Kan HE, Heerschap A, Cameron D, Tasca G, Leung DG, Voermans NC, van Engelen BGM, van Alfen N. Vincenten SCC, et al. Among authors: voermans nc. Neuromuscul Disord. 2025 Jan 9;47:105274. doi: 10.1016/j.nmd.2025.105274. Online ahead of print. Neuromuscul Disord. 2025. PMID: 39884029 Free article. Review.
Tenascin-X deficiency causing classical-like Ehlers Danlos syndrome type 1 in humans is a significant risk factor for GI and tracheal ruptures.
van Gurp JE, Lechner RL, Micha D, Maugeri A, Dulfer E, van Dijk FS, Keszthelyi D, Malfatti E, Kubo A, Voermans NC, Demirdas S. van Gurp JE, et al. Among authors: voermans nc. Clin Transl Gastroenterol. 2025 Jan 14. doi: 10.14309/ctg.0000000000000821. Online ahead of print. Clin Transl Gastroenterol. 2025. PMID: 39807789
Correction: A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.
de Laat ECM, Houwen-van Opstal SLS, Bouman K, van Doorn JLM, Cameron D, van Alfen N, Dittrich ATM, Kamsteeg EJ, Smeets HJM, Groothuis JT, Erasmus CE, Voermans NC. de Laat ECM, et al. Among authors: voermans nc. BMC Neurol. 2024 Dec 16;24(1):477. doi: 10.1186/s12883-024-03994-5. BMC Neurol. 2024. PMID: 39681838 Free PMC article. No abstract available.
268 results