Results 1 to 10 of about 56,560 (289)

Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing. [PDF]

J Transl Med
Facioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence autosomal dominant neuromuscular disease characterized by significant clinical and genetic heterogeneity.
Huang M, Zhang Q, Jiao J, Shi J, Xu Y, Zhang C, Zhou R, Liu W, Liang Y, Chen H, Wang Y, Xu Z, Hu P.   +12 more
europepmc   +4 more sources

A 5-year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials. [PDF]

Muscle Nerve
The number of clinical trials in facioscapulohumeral muscular dystrophy (FSHD) is expected to increase in the near future. There is a need for clinical outcome assessments (COAs) that can capture disease progression over the relatively short time span of
Kools J, Vincenten S, van Engelen BGM, Voet NBM, Merkies I, Horlings CGC, Voermans NC, Mul K.   +7 more
europepmc   +4 more sources

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy [PDF]

Frontiers in Genome Editing, 2022
Facioscapulohumeral dystrophy (FSHD) is a skeletal muscle disease caused by the aberrant expression of the DUX4 gene in the muscle tissue. To date, different therapeutic approaches have been proposed, targeting DUX4 at the DNA, RNA or protein levels. The
Virginie Mariot, Julie Dumonceaux
doaj   +3 more sources

Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD): A Systematic Review. [PDF]

Cureus, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. This disease presents as a slowly progressive asymmetric muscle weakness that involves the facial, scapular, and upper arm muscles mainly. Currently, there
Aguirre AS, Astudillo Moncayo OM, Mosquera J, Muyolema Arce VE, Gallegos C, Ortiz JF, Andrade AF, Oña S, Buj MJ.   +8 more
europepmc   +2 more sources

Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments. [PDF]

Int J Mol Sci, 2023
Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of muscular dystrophy and is characterized by muscle weakness and atrophy.
Duranti E, Villa C.
europepmc   +2 more sources

Facioscapulohumeral muscular dystrophy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD, FSHD1 and FSHD2, have been identified displaying identical clinical phenotype but different genetic and epigenetic basis.
Sacconi, Sabrina, SALVIATI, LEONARDO, Desnuelle, Claude   +2 more
semanticscholar   +6 more sources

Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape. [PDF]

Int J Mol Sci
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy, characterized by progressive and asymmetric muscle atrophy, primarily affecting muscles of the face, shoulder girdle, and upper arms before affecting muscles of the lower extremities
Beck SL, Yokota T.
europepmc   +2 more sources

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. [PDF]

Clin Genet
The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical ...
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF.   +20 more
europepmc   +2 more sources

Facioscapulohumeral Muscular Dystrophy

Continuum, 2022
This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumeral muscular dystrophy (FSHD), as well as advances in targeted therapy development.FSHD has a wide range of severity, yet a distinct phenotype characterized by weakness of the facial, shoulder, and upper arm muscles, followed by weakness ...
Mul, K., Mul, K.
openaire   +4 more sources

Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy

Nature Communications, 2021
Facioscapulohumeral muscular dystrophy is a myopathy caused by aberrant de-repression of the DUX4 gene. Here, the authors show that miR-675 inhibits DUX4 expression and protects muscles from DUX4-mediated cell death when administered to mice using AAV ...
Nizar Y. Saad, Mustafa Al-Kharsan, Sara E. Garwick-Coppens, Gholamhossein Amini Chermahini, Madison A. Harper, Andrew Palo, Ryan L. Boudreau, Scott Q. Harper   +7 more
doaj   +2 more sources