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Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history study.
Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Zweers-van Essen H, de Baaij-Daalmeyer A, Janssen MCH, Erasmus CE, Draaisma JMT, Voermans NC. Bouman K, et al. Among authors: janssen mch. Neuromuscul Disord. 2024 Jan;34:105-113. doi: 10.1016/j.nmd.2023.11.008. Epub 2023 Dec 2. Neuromuscul Disord. 2024. PMID: 38160563 Free article.
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. Among authors: janssen mch. J Neuromuscul Dis. 2023;10(6):1055-1074. doi: 10.3233/JND-221673. J Neuromuscul Dis. 2023. PMID: 37807786 Free PMC article.
LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. Among authors: janssen mch. Neurol Genet. 2023 Jul 19;9(5):e200089. doi: 10.1212/NXG.0000000000200089. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37476021 Free PMC article.
Increased prevalence of Parkinson's disease in alkaptonuria.
Ranganath L, Khedr M, Milan AM, Davison AS, Norman BP, Janssen MCH, Lock E, Bou-Gharios G, Gallagher JA. Ranganath L, et al. Among authors: janssen mch. JIMD Rep. 2023 May 11;64(4):282-292. doi: 10.1002/jmd2.12367. eCollection 2023 Jul. JIMD Rep. 2023. PMID: 37404676 Free PMC article.
199 results