Results 51 to 60 of about 5,041 (194)

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? [PDF]

, 2012
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy after the dystrophinopathies and myotonic dystrophy and is associated with a typical pattern of muscle weakness.
Richards, Mark, Upadhyaya, Meena, Thomas, Nicholas Stuart Tudor, Coppée, Frédérique, Belayew, Alexandra   +4 more
core   +2 more sources

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy

eLife, 2016
Facioscapulohumeral muscular dystrophy (FSHD) involves sporadic expression of DUX4, which inhibits myogenesis and is pro-apoptotic. To identify target genes, we over-expressed DUX4 in myoblasts and found that the receptor tyrosine kinase Ret was ...
Louise A Moyle, Eric Blanc, Oihane Jaka, Johanna Prueller, Christopher RS Banerji, Francesco Saverio Tedesco, Stephen DR Harridge, Robert D Knight, Peter S Zammit   +8 more
doaj   +1 more source

A Retrospective Cohort Study of Nutrition Outcomes in Children With Spinal Muscular Atrophy Type 1 and 2 Treated With Disease Modifying Therapies

Muscle &Nerve, Volume 74, Issue 1, Page 198-206, July 2026.
ABSTRACT Introduction/Aims Few studies have investigated nutrition as a primary outcome of disease modifying therapy (DMT) in spinal muscular atrophy (SMA). This study aimed to describe nutrition outcomes of DMT in children with SMA 1 and 2. Methods Children ≤ 18 years old with SMA 1 or 2 treated with DMTs, and untreated children with SMA 1 were ...
Katie O'Brien, Kay Nguo, Eppie M. Yiu, Ian R. Woodcock, Natassja Billich, Zoe E. Davidson   +5 more
wiley   +1 more source

DUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation

, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is an incurable disorder linked to ectopic expression of DUX4. However, DUX4 is notoriously difficult to detect in FSHD muscle cells, while DUX4 target gene expression is an inconsistent biomarker for FSHD ...
Panamarova, Maryna, Banerji, Christopher R.S., Zammit, Peter S.   +2 more
core   +1 more source

Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).

PLoS Genetics, 2013
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle disease whose molecular pathogenesis remains largely unknown. Over-expression of FSHD region gene 1 (FRG1) in mice, frogs, and worms perturbs muscle development and causes FSHD-like ...
Mariaelena Pistoni, Lily Shiue, Melissa S Cline, Sergia Bortolanza, Maria Victoria Neguembor, Alexandros Xynos, Manuel Ares, Davide Gabellini   +7 more
doaj   +1 more source

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder that has been associated with a contraction of 3.3-kb repeats on chromosome 4q35.
Kunkel, Louis M., Arashiro, Patricia, Eisenberg, Iris, Kho, Alvin T., Cerqueira, Antonia M. P., Canovas, Marta, Verjovski-Almeida, Sergio, Pavanello, Rita C. M., Silva, Helga C. A., Zatz, Mayana   +9 more
core   +1 more source

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern, Karryn Crisamore, John Patton, Robert Schuck, Michael Pacanowski   +4 more
wiley   +1 more source

Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-Sectional Study

, 2017
INTRODUCTION: We provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD). METHODS: Ninety-four adult individuals with FSHD1 from two sites were included in this cross-sectional study.
Chagarlamudi, Hema, Wagner, Kathryn, Grosmann, Carla, Shapiro, Jay, Stock, Carly Matichak, Stinson, Nikia, Stoll, Marion, Corbett, Alastair, Bibat, Genila   +8 more
core   +1 more source

Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei

Skeletal Muscle, 2018
Background Facioscapulohumeral muscular dystrophy (FSHD) is associated with DNA hypomethylation at the 4q35 D4Z4 repeat array. Both the causal gene DUX4 and its homolog DUX4c are induced. DUX4c is immunodetected in every myonucleus of proliferative cells,
Céline Vanderplanck, Alexandra Tassin, Eugénie Ansseau, Sébastien Charron, Armelle Wauters, Céline Lancelot, Kelly Vancutsem, Dalila Laoudj-Chenivesse, Alexandra Belayew, Frédérique Coppée   +9 more
doaj   +1 more source