Results 31 to 40 of about 3,619 (165)

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

Genetics of Facioscapulohumeral Muscular Dystrophy

Pediatric Neurology Briefs, 1991
More than 500 subjects from 41 families with dominantly inherited facioscapulohumeral muscular dystrophy (FSHD) were studied at the Royal Hospital for Sick Children, St. Michael’s Hill, Bristol and the University of Wales College of Medicine, Heath Park,
J Gordon Millichap
doaj   +1 more source

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   +1 more source

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

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

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

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

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

The socioeconomic burden of facioscapulohumeral muscular dystrophy [PDF]

Journal of Neurology, 2021
AbstractBackgroundPromising genetic therapies are being investigated in facioscapulohumeral muscular dystrophy (FSHD). However, the current cost of illness is largely unknown.ObjectiveThis study aimed at determining the socioeconomic burden of FSHD.MethodsAdult patients with FSHD from the Dutch FSHD registry were invited to complete a questionnaire on ...
Anna M. Blokhuis, Johanna C. W. Deenen, Nicol C. Voermans, Baziel G. M. van Engelen, Wietske Kievit, Jan T. Groothuis   +5 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