Results 91 to 100 of about 5,789 (161)

Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disease, with an epigenetic basis linked to contractions or hypomethylation of the chromosome 4q subtelomere.
Emerson, Charles P. Jr., Himeda, Charis
core   +1 more source

Membrane proteins : putative FSHD biomarkers?

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin opening and DNA hypomethylation at the D4Z4 repeat array in the 4q35 subtelomeric region.
Leroy, Baptiste, Wattiez, Ruddy, Coppée, Frédérique, Wauters, Armelle, Laval, Steven, Belayew, Alexandra, Tassin, Alexandra   +6 more
core   +2 more sources

Фамилен, генетично верифициран случай на фациоскапулохумерална мускулна дистрофия с ранно начало

Българска неврология, 2020
Фациоскапулохумералната мускулна дистрофия е третата най-често срещана форма на мускулна дистрофия след Duchenne мускулна дистрофия и миотонична мускулна дистрофия с честота 1:15 000-20 000 здрави хора. От генетична гледна точка се различават 2 подтипа –
Maya Koleva, V. Bojinova, D. Bogdanova, T. Todorov, A. Todorova   +4 more
doaj  

Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects.: Morphological differentiation defects in FSHD myoblasts

, 2010
International audienceFacioscapulohumeral dystrophy (FSHD) is a muscular hereditary disease with a prevalence of 1 in 20,000 caused by a partial deletion of a subtelomeric repeat array on chromosome 4q.
Flavier, Sébastien, Yegor Vassetzky, Laoudj-Chenivesse, Dalila, Sébastien Flavier, Laoudj-Chenivesse, Dalila, D., Mercier, Jacques, Gilles Carnac, Barro, Marietta, Jacques Mercier, Marietta Barro, Carnac, Gilles, Vassetzky, Yegor, Dalila Laoudj‐Chenivesse   +12 more
core   +1 more source

A simplified approach for FSHD molecular testing

, 2014
Background: Facioscapulohumeral muscular dystrophy (FSHD) is characterized by complex genetics linked to DNA rearrangements in a polymorphic genomic region of tandemly repeated D4Z4 segments.
Kekou, K., Ioannou, P.C., Sakellariou, P., Kanavakis, E., Papanikos, F., Skoulatou, C., Christopoulos, T.K., Traeger-Synodinos, J.   +7 more
core   +1 more source

Set-up of an in vivo model of facioscapulohumeral muscular dystrophy (FSHD) based on human perivascular cells

, 2018
DUX4, the best candidate gene of FSHD, is specific of human cells with mouse models expressing variant forms of DUX family. Moreover, human and mouse muscle express a different pattern of hormone receptor.
E Teveroni, F Moretti, I Manni, C Gargioli, L Proietti, F Maiullari, G Deidda, M Monforte, E Ricci, R Rizzi, G di Blasio, S Maiullari   +11 more
core  

Best gene subset found using the proposed method and LDA as performance measure in FSHD-DB2 (the FSHD-DB2 model).

, 2013
Best gene subset found using the proposed method and LDA as performance measure in FSHD-DB2 (the FSHD-DB2 model).
Lluís A. Belanche-Muñoz (497376), Félix F. González-Navarro (497375), Karen A. Silva-Colón (497377)   +2 more
core   +1 more source

Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy

Stem Cell Research
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically complex condition marked by progressive skeletal muscle weakness, primarily affecting the face, shoulders, and upper arms.
Ravichandra Venkateshappa, Francesca Vacante, Lingyun Xu, Gabriela Canel-Rivero, John W. Day, Joseph C. Wu   +5 more
doaj   +1 more source

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source

Facioscapulohumeral Muscular Dystrophy (FSHD)

This is an introduction to Facioscapulohumeral Muscular Dystrophy (FSHD) and its causes, presentation, diagnosis, treatment, and ongoing related research.FSHD Global Research Foundation. (n.d.). What is FSHD? Retrieved from https://fshdglobal.org/what-is-
Rohith Erukulla; Brooke Johnson
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