Results 41 to 50 of about 3,828 (168)

Facioscapulohumeral muscular dystrophy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) or global (genome-wide) and there is evidence for both ...
Maarel, S.M. van der, Frants, R.R., Padberg, G.W.A.M.   +2 more
openaire   +3 more sources

Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment

Neurologijos seminarai, 2023
Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy characterised by weakness of the face, scapula, upper arm, and other muscles.
T. Mikalauskas, B. Burnytė
doaj   +3 more sources

The prevalence of hereditary neuromuscular disorders in Northern Norway

Brain and Behavior, 2021
Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen   +4 more
doaj   +1 more source

A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy‐Affected Skeletal Muscles

Stem Cells Translational Medicine, 2016
Facioscapulohumeral muscular dystrophy (FSHD) represents a major unmet clinical need arising from the progressive weakness and atrophy of skeletal muscles. The dearth of adequate experimental models has severely hampered our understanding of the disease.
Leslie Caron, Devaki Kher, Kian Leong Lee, Robert McKernan, Biljana Dumevska, Alejandro Hidalgo, Jia Li, Henry Yang, Heather Main, Giulia Ferri, Lisa M. Petek, Lorenz Poellinger, Daniel G. Miller, Davide Gabellini, Uli Schmidt   +14 more
doaj   +1 more source

Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies

Biomedicines, 2022
Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation.
Arlek González-Jamett, Walter Vásquez, Gabriela Cifuentes-Riveros, Rafaela Martínez-Pando, Juan C. Sáez, Ana M. Cárdenas   +5 more
doaj   +1 more source

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

Frontiers in Neurology, 2021
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and predominantly affects facial and shoulder girdle muscles. Previous case reports and cohort studies identified minor cardiac abnormalities in FSHD
Allison Ducharme-Smith, Stefan Nicolau, C. Anwar A. Chahal, C. Anwar A. Chahal, C. Anwar A. Chahal, Kirstie Ducharme-Smith, Shujah Rehman, Keerthi Jaliparthy, Nadeem Khan, Christopher G. Scott, Erik K. St Louis, Teerin Liewluck, Virend K. Somers, Grace Lin, Peter A. Brady, Margherita Milone   +15 more
doaj   +1 more source

Cochlear Function in Facioscapulohumeral Muscular Dystrophy

Otology & Neurotology, 2007
Facioscapulohumeral muscular dystrophy (FSHD) is commonly associated with high-frequency hearing impairment. Our objective was to evaluate a group of normally hearing patients with FSHD using otoacoustic emissions.Prospective, randomized clinical trial.A tertiary University-based referral center in Athens, Greece.The study group consisted of a ...
Balatsouras, D.G., Korres, S., Manta, P., Panousopoulou, A., Vassilopoulos, D.   +4 more
openaire   +3 more sources

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

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

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