Results 101 to 110 of about 1,867 (154)

Interleukin 1 beta levels were significantly different in male FSHD patients [PDF]

Genetics & Discovery Research , P4.04In FSHD, DUX4 toxicity leads to cell death. Cell death is known to initiate a process called sterile inflammation through IL1 family, which includes IL-1β.
Nannini, Giulia, Berker Karaüzüm, Sibel, Özcan, Filiz, Niccolai, Elena, Hangül, Ceren, Baldi, Simone, Uysal, Hilmi, Amedei, Amedeo   +7 more
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Reachable workspace in facioscapulohumeral muscular dystrophy (FSHD) by kinect [PDF]

, 2015
IntroductionA depth-ranging sensor (Kinect) based upper extremity motion analysis system was applied to determine the spectrum of reachable workspace encountered in facioscapulohumeral muscular dystrophy (FSHD).MethodsReachable workspaces were obtained ...
Gregorij Kurillo, Abresch, Richard T, Ruzena Bajcsy, Alina Nicorici, Han, Jay J, Richard T. Abresch, Nicorici, Alina, Bajcsy, Ruzena, Evan de Bie, Jay J. Han, Kurillo, Gregorij, Bie, Evan   +11 more
core   +1 more source

Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature

Applied Sciences
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant genetic disease, which is caused by the mistaken expression of double homeobox protein 4 protein 4 (DUX4) in skeletal muscle.
Qi Xie, Guangmei Ma, Yafeng Song
doaj   +1 more source

MiRNA dysregulation in FSHD myotubes. [PDF]

, 2014
A) DEseq analysis of miRNAs differentially expressed in FSHD myotubes vs control myotubes.
Raffaella Meneveri (25726), Giulia Soldà (393631), Francesca Roma (640472), Raffaella Picco (640471), Stéphanie François (5660794), Enrico Ginelli (25727), Veronica Colangelo (640470)   +6 more
core   +1 more source

RNA cargo profiling of muscle extracellular vesicles identifies candidate biomarkers of disease activity and muscle degeneration in FSHD

Journal of Translational Medicine
Background Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder characterized by high inter- and intra-individual variability in muscle involvement, disease severity, and rate of progression, even among affected relatives.
Elvira Ragozzino, Sara Bortolani, Lorena Di Pietro, Elisa Orecchini, Andrea Papait, Simona Nanni, Eleonora Torchia, Mauro Monforte, Beatrice Ravera, Luciano Giacò, Giulia Mantini, Annalaura Torella, Vincenzo Nigro, Diego Sibilia, Gurjit Kaur, Flavia Giacalone, Andrea Sabino, Manuela Papacci, Alberto Augello, Donatella Lucchetti, Alessandro Sgambato, Giorgio Tasca, Valentina Saccone, Wanda Lattanzi, Ornella Parolini, Enzo Ricci   +25 more
doaj   +1 more source

ISEV2026 Abstract Book

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

Investigations on the FSHD disorganized myotube phenotype [PDF]

, 2012
Primary CD56+ FSHD myoblasts fuse into myotubes presenting various proportions of an atrophic or a disorganized phenotype. To better define those phenotypes, we optimized a differential isotope protein labeling (ICPL) combined with 2DLC-MS/MS to study ...
Leroy, Baptiste, Wattiez, Ruddy, Coppée, Frédérique, Charron, Sébastien, Wauters, Armelle, Ansseau, Eugénie, Laoudj-Chenivesse, Dalila, Belayew, Alexandra, Tassin, Alexandra, Vanderplanck, Céline   +9 more
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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  

Late Breaking Abstracts

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

FSHD and OPMD: Deregulation of IGF2BP1-mRNP components during the differentiation of FSHD muscle cells. [PDF]

, 2017
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the misexpression of DUX4. Its homologue DUX4c is also induced in FSHD muscles. In contrast to DUX4, DUX4c is expressed in all myoblasts and is proposed to play a role in normal muscle ...
Castella, Sandrine, Goudji, Cédrick, Larcher, Jean-Christophe, Coppée, Frédérique, Ansseau, Eugénie, Sciot, Maëlle, Belayew, Alexandra   +6 more
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