The D4Z4 Repeat–Mediated Pathogenesis of Facioscapulohumeral Muscular Dystrophy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference73 articles.
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2. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases;Bakker;J Med Genet,1996
3. The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter;Bakker;Muscle Nerve,1995
4. Human genome dispersal and evolution of 4q35 duplications and interspersed LSau repeats;Ballarati;Gene,2002
5. The DUX gene family and FSHD;Coppee,2004
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1. Updates on Facioscapulohumeral Muscular Dystrophy (FSHD);Current Treatment Options in Neurology;2024-04-02
2. Engineered FSHD mutations results in D4Z4 heterochromatin disruption and feedforward DUX4 network activation;iScience;2024-04
3. FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation;Human Molecular Genetics;2023-10-19
4. Molecular and Phenotypic Changes in FLExDUX4 Mice;Journal of Personalized Medicine;2023-06-25
5. Engineered SMCHD1 and D4Z4 mutations reveal roles of D4Z4 heterochromatin disruption and feedforward DUX4 network activation in FSHD;2022-10-16
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