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268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials.
Neuromuscul Disord. 2023 May;33(5):447-462. doi: 10.1016/j.nmd.2023.04.005. Epub 2023 Apr 8.
Neuromuscul Disord. 2023.
PMID: 37099914
No abstract available.
Mitochondrial Oxidative Stress and Mitophagy Activation Contribute to TNF-Dependent Impairment of Myogenesis.
Chernyavskij DA, Pletjushkina OY, Kashtanova AV, Galkin II, Karpukhina A, Chernyak BV, Vassetzky YS, Popova EN.
Chernyavskij DA, et al.
Antioxidants (Basel). 2023 Mar 1;12(3):602. doi: 10.3390/antiox12030602.
Antioxidants (Basel). 2023.
PMID: 36978858
Free PMC article.
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Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Nikolic A, Jones TI, Govi M, Mele F, Maranda L, Sera F, Ricci G, Ruggiero L, Vercelli L, Portaro S, Villa L, Fiorillo C, Maggi L, Santoro L, Antonini G, Filosto M, Moggio M, Angelini C, Pegoraro E, Berardinelli A, Maioli MA, D'Angelo G, Di Muzio A, Siciliano G, Tomelleri G, D'Esposito M, Della Ragione F, Brancaccio A, Piras R, Rodolico C, Mongini T, Magdinier F, Salsi V, Jones PL, Tupler R.
Nikolic A, et al.
Int J Mol Sci. 2020 Apr 10;21(7):2635. doi: 10.3390/ijms21072635.
Int J Mol Sci. 2020.
PMID: 32290091
Free PMC article.
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. ...Recently, D4Z4 hypomethylation has been proposed as a reliable marker in the FSHD diagnosis. We exploited the Italian Registry for …
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. ...R …
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