Results 71 to 80 of about 1,867 (154)

DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. [PDF]

PLoS ONE, 2009
Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contractions of the D4Z4 repeat array in 4q35. We have previously identified a double homeobox gene (DUX4) within each D4Z4 unit that encodes a transcription factor expressed ...
Eugénie Ansseau, Dalila Laoudj-Chenivesse, Aline Marcowycz, Alexandra Tassin, Céline Vanderplanck, Sébastien Sauvage, Marietta Barro, Isabelle Mahieu, Axelle Leroy, India Leclercq, Véronique Mainfroid, Denise Figlewicz, Vincent Mouly, Gillian Butler-Browne, Alexandra Belayew, Frédérique Coppée   +15 more
doaj   +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

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. [PDF]

PLoS Genetics, 2013
Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts.
Nathalie Caruso, Balàzs Herberth, Marc Bartoli, Francesca Puppo, Julie Dumonceaux, Angela Zimmermann, Simon Denadai, Marie Lebossé, Stephane Roche, Linda Geng, Frederique Magdinier, Shahram Attarian, Rafaelle Bernard, Flavio Maina, Nicolas Levy, Françoise Helmbacher   +15 more
doaj   +1 more source

Best gene subset found using the proposed method and LDA as performance measure in FSHD-DB1 (the FSHD-DB1 model). [PDF]

, 2013
Best gene subset found using the proposed method and LDA as performance measure in FSHD-DB1 (the FSHD-DB1 model).
Lluís A. Belanche-Muñoz (497376), Félix F. González-Navarro (497375), Karen A. Silva-Colón (497377)   +2 more
core   +1 more source

Membrane proteins : putative FSHD biomarkers? [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin opening and DNA hypomethylation at the D4Z4 repeat array in the 4q35 subtelomeric region.
Leroy, Baptiste, Wattiez, Ruddy, Coppée, Frédérique, Wauters, Armelle, Laval, Steven, Belayew, Alexandra, Tassin, Alexandra   +6 more
core   +2 more sources

Measuring health-related quality of life in facioscapulohumeral muscular dystrophy: a COSMIN systematic review and conceptual framework

Health and Quality of Life Outcomes
Background Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causing progressive muscle weakness. FSHD has substantial impacts on function and health-related quality of life (HRQoL).
Jill Carlton, Philip Powell, Jon Street, Sé Frances, Claire Williams, Anthea Sutton, Channa Hewamadduma   +6 more
doaj   +1 more source

A study evaluating differences in 3D upper limb kinematics and surface electromyography measures in adults with and without facioscapulohumeral dystrophy

JSES Reviews, Reports, and Techniques
Background: Facioscapulohumeral dystrophy (FSHD) is a rare disease that causes progressive muscle wasting and loss of function, with the upper limb being the most affected. Factors leading to loss of arm function are poorly understood.
Fraser Philp, PhD, Martin Seyres, PhD, Nicholas Emery, PGradDip, Richa Kulshrestha, MRCPCH, Edward K. Chadwick, PhD   +4 more
doaj   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 1078-1083, May 2026.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

The history of research on facioscapulohumeral muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary neuromuscular disease which is divided into FSHD1 and FSHD2. After years of research, FSHD has established complete molecular diagnostic methods, in which Southern blotting is commonly ...
Cheng ZHANG, Huan LI
doaj  

Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. [PDF]

PLoS ONE, 2012
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions.
Giorgio Tasca, Mario Pescatori, Mauro Monforte, Massimiliano Mirabella, Elisabetta Iannaccone, Roberto Frusciante, Tiziana Cubeddu, Francesco Laschena, Pierfrancesco Ottaviani, Enzo Ricci   +9 more
doaj   +1 more source