Results 61 to 70 of about 275,647 (194)

PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle

Nature Communications, 2017
Facioscapulohumeral muscular dystrophy is a myopathy linked to ectopic expression of the DUX4 transcription factor. The authors show that the suppression of targets genes of the myogenesis regulator PAX7 is a signature of FSHD, and might explain ...
Christopher R. S. Banerji, Maryna Panamarova, Husam Hebaishi, Robert B. White, Frédéric Relaix, Simone Severini, Peter S. Zammit   +6 more
doaj   +1 more source

Whole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy

Communications Medicine, 2022
Facioscapulohumeral dystrophy (FSHD) is a major muscular dystrophy characterized by asymmetric fatty replacement of muscles. We aimed to determine the initiation site and progression profile of the disease in lower extremity muscles of FSHD patients by ...
L. Heskamp, A. Ogier, D. Bendahan, A. Heerschap   +3 more
semanticscholar   +1 more source

Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update

Orphanet Journal of Rare Diseases, 2021
Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD) does not exist currently, recent advances in complex molecular pathophysiology studies of FSHD have led to possible therapeutic approaches for its targeted treatment ...
Teresa Schätzl, Lars Kaiser, H. Deigner
semanticscholar   +1 more source

Genetics of Facioscapulohumeral Dystrophy

Pediatric Neurology Briefs, 1996
The relationship of phenotype to genotype in a clinically and genetically well defined population of 157 affected patients and 62 kindreds with facioscapulohumeral muscular dystrophy (FSHD) was examined at the University of Rochester School of Medicine ...
J Gordon Millichap
doaj   +1 more source

Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy

Disability and Rehabilitation, 2022
Purpose To assess the psychosocial outcomes of facial weakness in facioscapulohumeral muscular dystrophy (FSHD). Materials and methods A cross-sectional survey study.
W. van de Geest-Buit, N. Rasing, K. Mul, J. C. Deenen, S. Vincenten, I. Siemann, A. Lanser, J. Groothuis, B. V. van Engelen, J. Custers, N. Voermans   +10 more
semanticscholar   +1 more source

Identification of the hyaluronic acid pathway as a therapeutic target for facioscapulohumeral muscular dystrophy

, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is linked to epigenetic derepression of the germline/embryonic transcription factor DUX4 in skeletal muscle.
Wagner, Kathryn, Emerson, Charles P. Jr., Leszyk, John D., DeSimone, Alec M.   +3 more
core   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry

Rare
Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and ...
Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans   +8 more
doaj   +1 more source

Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations.

Neuromuscular Disorders
Clinical trial readiness is an important topic in the field of facioscapulohumeral muscular dystrophy (FSHD). As FSHD is a slowly progressive and clinically heterogeneous disease, imaging biomarkers have been proposed to complement clinical outcome ...
S. Vincenten, S. Teeselink, K. Mul, L. Heskamp, Hermien E. Kan, A. Heerschap, D. Cameron, G. Tasca, Doris G. Leung, N. Voermans, B. V. van Engelen, N. van Alfen   +11 more
semanticscholar   +1 more source

Exercise Intolerance in Facioscapulohumeral Muscular Dystrophy

Medicine & Science in Sports & Exercise, 2022
Purpose Determine 1) if adults with facioscapulohumeral muscular dystrophy (FSHD) exhibit exercise intolerance and 2) potential contributing mechanisms to exercise intolerance, specific to FSHD. Methods Eleven people with FSHD (47 ± 13 yr, 4 females) and
Kathryn Vera, M. McConville, Aline Glazos, William Stokes, Michael Kyba, Manda L. Keller‐Ross   +5 more
semanticscholar   +1 more source