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144 results

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Page 1
Ketogenic diet in adult patients with mitochondrial myopathy.
Zweers HEE, Kroesen SH, Beerlink G, Buit E, Gerrits K, Dorhout A, van Wegberg AMJ, Janssen MCH, Wortmann SB, Timmers S, Saris CGJ. Zweers HEE, et al. Among authors: janssen mch. Mol Genet Metab. 2024 Dec;143(4):108610. doi: 10.1016/j.ymgme.2024.108610. Epub 2024 Nov 10. Mol Genet Metab. 2024. PMID: 39602868 Free article. Clinical Trial.
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.
Smeitink J, van Es J, Bosman B, Janssen MCH, Klopstock T, Gorman G, Vissing J, Ruiterkamp G, Edgar CJ, Abbink EJ, van Maanen R, Pogoryelova O, Stendel C, Bischoff A, Karin I, Munshi M, Kümmel A, Burgert L, Verhaak C, Renkema H. Smeitink J, et al. Among authors: janssen mch. Brain. 2024 Nov 6:awae277. doi: 10.1093/brain/awae277. Online ahead of print. Brain. 2024. PMID: 39501914
Ndufs4 knockout mice with isolated complex I deficiency engage a futile adaptive brain response.
van de Wal MAE, Doornbos C, Bibbe JM, Homberg JR, van Karnebeek C, Huynen MA, Keijer J, van Schothorst EM, 't Hoen PAC, Janssen MCH, Adjobo-Hermans MJW, Wieckowski MR, Koopman WJH. van de Wal MAE, et al. Among authors: janssen mch. Biochim Biophys Acta Proteins Proteom. 2025 Jan 1;1873(1):141055. doi: 10.1016/j.bbapap.2024.141055. Epub 2024 Oct 11. Biochim Biophys Acta Proteins Proteom. 2025. PMID: 39395749 Free article.
Dysarthria and dysphagia in patients with mitochondrial diseases.
Kuin REM, Groothuis JT, Buit P, Janssen MCH, Knuijt S. Kuin REM, et al. Among authors: janssen mch. Mol Genet Metab. 2024 Jul;142(3):108510. doi: 10.1016/j.ymgme.2024.108510. Epub 2024 Jun 1. Mol Genet Metab. 2024. PMID: 38843620 Free article.
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.
144 results