Results 1 to 10 of about 5,041 (194)

Therapeutic Strategies Targeting DUX4 in FSHD [PDF]

Journal of Clinical Medicine, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. Patients initially exhibit asymmetric facial and humeral muscle damage, followed by lower body muscle involvement. FSHD is associated with a derepression of DUX4 gene encoded by the D4Z4 macrosatellite located on the ...
Laura Le Gall, Virginie Mariot, Julie Dumonceaux   +2 more
exaly   +7 more sources

FSHD [PDF]

Neuromuscular Disorders, 2021
S. Bortolani, N. Mosca, M. Monforte, T. Tartaglione, E. Ragozzino, E. Ricci, G. Tasca   +6 more
  +24 more sources

Measuring health-related quality of life in facioscapulohumeral muscular dystrophy: a COSMIN systematic review and conceptual framework [PDF]

Health and Quality of Life Outcomes
Background Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causing progressive muscle weakness. FSHD has substantial impacts on function and health-related quality of life (HRQoL).
Jill Carlton, Philip Powell, Jon Street, Sé Frances, Claire Williams, Anthea Sutton, Channa Hewamadduma   +6 more
doaj   +2 more sources

Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy [PDF]

Frontiers in Neurology
BackgroundThis study aimed to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) for Serbian patients with facioscapulohumeral muscular dystrophy (FSHD) in order to measure their disease burden.Patients and methodForty-one patients
Branislav Ralic, Noemi Albano, Vanja Viric, Andi Nuredini, Ana Arsic Azanjac, Sonja Rajic, Sonja Rajic, Ana Marjanovic, Rossella Tupler, Chad Heatwole, Stojan Peric, Stojan Peric   +11 more
doaj   +2 more sources

A study evaluating differences in 3D upper limb kinematics and surface electromyography measures in adults with and without facioscapulohumeral dystrophy [PDF]

JSES Reviews, Reports, and Techniques
Background: Facioscapulohumeral dystrophy (FSHD) is a rare disease that causes progressive muscle wasting and loss of function, with the upper limb being the most affected. Factors leading to loss of arm function are poorly understood.
Fraser Philp, PhD, Martin Seyres, PhD, Nicholas Emery, PGradDip, Richa Kulshrestha, MRCPCH, Edward K. Chadwick, PhD   +4 more
doaj   +2 more sources

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

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   +2 more sources

Adaptive response to electrical pulse stimulation is impaired in FSHD myotubes by DUX4 gene network activation [PDF]

Scientific Reports
Facioscapulohumeral dystrophy (FSHD) is one of the most common muscular dystrophies with no effective treatment. The disease is linked to abnormal derepression of DUX4 embryonic transcription factor in skeletal muscle, but at very low frequency. How this
Xiangduo Kong, Ananya Rajagopal, Skylar Renee Foust, Jonovan Osorio, Ali Mortazavi, Anna Grosberg, Kyoko Yokomori   +6 more
doaj   +2 more sources

Assessing the multidimensional burden of facioscapulohumeral muscular dystrophy through patient-reported outcomes and experience [PDF]

Journal of Patient-Reported Outcomes
Background Facioscapulohumeral muscular dystrophy (FSHD) is a rare, autosomal dominant disorder that adversely affects life expectancy and health-related quality of life.
Wenjing Ji, Yifei Zhao, Yuqiang Kang, Zikai He, Linkai Xu, Sundus Shukar, Ailiyaer Aikepaier, Xinyue Chen, Qifang He, Minghui Zeng, Yuhua Lin, Minting Lin, Huxinigeer Maimaiti, Tingting Liu, Linguo Li, Zhiqiang Wang, Yu Fang   +16 more
doaj   +2 more sources

Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD

Cells, 2022
Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype–phenotype correlation of ...
Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio   +2 more
exaly   +3 more sources

Objective Monitoring of Facioscapulohumeral Dystrophy During Clinical Trials Using a Smartphone App and Wearables: Observational Study

JMIR Formative Research, 2022
BackgroundFacioscapulohumeral dystrophy (FSHD) is a progressive muscle dystrophy disorder leading to significant disability. Currently, FSHD symptom severity is assessed by clinical assessments such as the FSHD clinical score and ...
Ghobad Maleki, Ahnjili Zhuparris, Ingrid Koopmans, Robert J Doll, Nicoline Voet, Adam Cohen, Emilie van Brummelen, Geert Jan Groeneveld, Joris De Maeyer   +8 more
doaj   +1 more source