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Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.
Stunnenberg BC, Woertman W, Raaphorst J, Statland JM, Griggs RC, Timmermans J, Saris CG, Schouwenberg BJ, Groenewoud HM, Stegeman DF, van Engelen BG, Drost G, van der Wilt GJ. Stunnenberg BC, et al. Among authors: saris cg. BMC Neurol. 2015 Mar 25;15:43. doi: 10.1186/s12883-015-0294-4. BMC Neurol. 2015. PMID: 25880166 Free PMC article. Clinical Trial.
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype.
Bednarz M, Stunnenberg BC, Kusters B, Kamsteeg EJ, Saris CG, Groome J, Winston V, Meola G, Jurkat-Rott K, Voermans NC. Bednarz M, et al. Among authors: saris cg. Neuromuscul Disord. 2017 Feb;27(2):175-182. doi: 10.1016/j.nmd.2016.09.023. Epub 2016 Oct 19. Neuromuscul Disord. 2017. PMID: 28024841
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.
Stunnenberg BC, Raaphorst J, Groenewoud HM, Statland JM, Griggs RC, Woertman W, Stegeman DF, Timmermans J, Trivedi J, Matthews E, Saris CGJ, Schouwenberg BJ, Drost G, van Engelen BGM, van der Wilt GJ. Stunnenberg BC, et al. JAMA. 2018 Dec 11;320(22):2344-2353. doi: 10.1001/jama.2018.18020. JAMA. 2018. PMID: 30535218 Free PMC article.
Autoantibody testing in idiopathic inflammatory myopathies.
Rietveld A, Lim J, de Visser M, van Engelen B, Pruijn G, Benveniste O, van der Kooi A, Saris C. Rietveld A, et al. Pract Neurol. 2019 Aug;19(4):284-294. doi: 10.1136/practneurol-2017-001742. Epub 2019 Mar 2. Pract Neurol. 2019. PMID: 30826741 Review.
Muscle fiber dysfunction contributes to weakness in inclusion body myositis.
Lassche S, Rietveld A, Heerschap A, van Hees HW, Hopman MT, Voermans NC, Saris CG, van Engelen BG, Ottenheijm CA. Lassche S, et al. Among authors: saris cg. Neuromuscul Disord. 2019 Jun;29(6):468-476. doi: 10.1016/j.nmd.2019.03.001. Epub 2019 Mar 7. Neuromuscul Disord. 2019. PMID: 31101463 Free article.
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
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, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6.
Rietveld A, van Gaalen J, Saris C, Okkersen K, Küsters B, van de Warrenburg B, van Engelen B, Sacconi S, Raaphorst J. Rietveld A, et al. J Neurol Neurosurg Psychiatry. 2020 Aug;91(8):876-878. doi: 10.1136/jnnp-2020-323270. Epub 2020 Jun 23. J Neurol Neurosurg Psychiatry. 2020. PMID: 32576615
N-of-1 trial of salbutamol in hyperkalaemic periodic paralysis.
Stunnenberg BC, Merkus EC, Raaphorst J, Saris CG, Groenewoud H, Statland J, Weijma R, van Vlijmen B, Griggs R, van Engelen BGM, van der Wilt GJ. Stunnenberg BC, et al. Among authors: saris cg. J Neurol Neurosurg Psychiatry. 2021 Dec;92(12):1352-1353. doi: 10.1136/jnnp-2021-326347. Epub 2021 Jun 10. J Neurol Neurosurg Psychiatry. 2021. PMID: 34112717 No abstract available.
50 results