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The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
Vishnu VY, Lemmers RJLF, Reyaz A, Mishra R, Ahmad T, van der Vliet PJ, Kretkiewicz MM, Macken WL, Efthymiou S, Dominik N, Morrow JM, Bhatia R, Wilson LA, Houlden H, Hanna MG, Bugiardini E, van der Maarel SM, Srivastava MVP. Vishnu VY, et al. Eur J Hum Genet. 2024 Sep;32(9):1053-1064. doi: 10.1038/s41431-024-01577-z. Epub 2024 Apr 25. Eur J Hum Genet. 2024. PMID: 38664571 Free PMC article.
Membrane Repair Deficit in Facioscapulohumeral Muscular Dystrophy.
Bittel AJ, Sreetama SC, Bittel DC, Horn A, Novak JS, Yokota T, Zhang A, Maruyama R, Rowel Q Lim K, Jaiswal JK, Chen YW. Bittel AJ, et al. Int J Mol Sci. 2020 Aug 4;21(15):5575. doi: 10.3390/ijms21155575. Int J Mol Sci. 2020. PMID: 32759720 Free PMC article.
Prenatal and progressive coenzyme Q10 administration to mitigate muscle dysfunction in mitochondrial disease.
Hernández-Camacho JD, Vicente-García C, Ardila-García L, Padilla-Campos A, López-Lluch G, Santos-Ocaña C, Zammit PS, Carvajal JJ, Navas P, Fernández-Ayala DJM. Hernández-Camacho JD, et al. J Cachexia Sarcopenia Muscle. 2024 Dec;15(6):2402-2416. doi: 10.1002/jcsm.13574. Epub 2024 Oct 2. J Cachexia Sarcopenia Muscle. 2024. PMID: 39354863 Free PMC article.