Results 1 to 10 of about 9,445 (236)

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients [PDF]

Cells, 2022
The study describes a protocol for methylation analysis integrated with Machine Learning (ML) algorithms developed to classify Facio-Scapulo-Humeral Dystrophy (FSHD) subjects.
Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio, Andrea Termine, Luca Colantoni, Cristina Bax, Juliette Gimenez, Mauro Monforte, Giorgio Tasca, Enzo Ricci, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella, Claudia Strafella   +13 more
doaj   +3 more sources

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features. [PDF]

Eur J Neurol
ABSTRACT Background and Objectives Camptocormia, a pathological forward flexion of the spine, is a relatively common but often unexplained postural abnormality. Facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent adult myopathies, is caused by a contraction of D4Z4 repeats on chromosome 4 and typically presents with facial ...
Torchia E, Vandeputte P, Monforte M, Gillet C, Verny C, Bernard R, Tasca G, Spinazzi M.   +7 more
europepmc   +4 more sources

The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping [PDF]

Orphanet Journal of Rare Diseases
Background Facioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy, which is characterized by a reduction in the number of D4Z4 repeats on chromosome 4q35.
Mengmeng Li, Na Hao, Jiazhen Chang, Kaili Yin, Xueting Yang, Yaru Wang, Yi Dai, Yulin Jiang   +7 more
doaj   +3 more sources

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics. [PDF]

Clin Transl Med
Clinical and Translational Medicine, Volume 15, Issue 8, August 2025.
Liu W, Chen H, Jiao J, Zhang Q, Liang D, Huo H, Ji X, Huang M, Hou X, Cao Y, Wu S, Wang Y, Zhang J, Xu Z, Hu P.   +14 more
europepmc   +2 more sources

The FSHD atrophic myotube phenotype is caused by DUX4 expression. [PDF]

PLoS ONE, 2011
BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35 within the D4Z4 repeat array in which we identified the double homeobox 4 (DUX4) gene.
Céline Vanderplanck, Eugénie Ansseau, Sébastien Charron, Nadia Stricwant, Alexandra Tassin, Dalila Laoudj-Chenivesse, Steve D Wilton, Frédérique Coppée, Alexandra Belayew   +8 more
doaj   +3 more sources

The Facioscapulohumeral Muscular Dystrophy Rasch‐Built Overall Disability Scale (FSHD‐RODS): Longitudinal Assessment of a Disease‐Specific Patient Reported Outcome [PDF]

Eur J Neurol
ABSTRACT Objective To assess changes in the facioscapulohumeral muscular dystrophy Rasch‐Built Overall Disability Scale (FSHD‐RODS) over 6.5 years in FSHD patients. Methods FSHD patients of 18 years or older were assessed at baseline (T1) and followed up at 5 years (T2) and 6.5 years (T3).
Teeselink S, Vincenten S, Voermans N, van Alfen N, van Engelen B, Mul K.   +5 more
europepmc   +2 more sources

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +2 more sources

Effect of creatine monohydrate on motor function in children with facioscapulohumeral muscular dystrophy: A multicenter, randomized, double-blind placebo-controlled crossover trial. [PDF]

Pharmacotherapy
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is a rare, progressive muscle disease with no available disease‐modifying therapy. Creatine monohydrate (CrM) has been shown to improve muscle strength in individuals with muscular dystrophies but has not been tested in young people with FSHD.
Woodcock IR, de Valle K, Cairns A, Davidson ZE, Kean M, Varma N, Grobler A, Metz D, Carroll K, Dilek N, Heatwole C, Ryan MM, Delatycki MB, Yiu EM.   +13 more
europepmc   +2 more sources

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Pain is a recognized symptom of muscular dystrophy (MD), but little is known about prescription pain medications in this population. We describe pain experiences and pain medications prescribed for individuals with selected MDs using population‐based surveillance data collected by the Muscular Dystrophy Surveillance, Tracking,
Suhl J, Conway KM, Thomas S, Rasmussen SA, Howard JF, Johnson NE, Romitti PA, Mathews KD, Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet).   +9 more
europepmc   +2 more sources

Next-generation sequencing analysis of miRNA expression in control and FSHD myogenesis. [PDF]

PLoS ONE, 2014
Emerging evidence has demonstrated that miRNA sequences can regulate skeletal myogenesis by controlling the process of myoblast proliferation and differentiation.
Veronica Colangelo, Stéphanie François, Giulia Soldà, Raffaella Picco, Francesca Roma, Enrico Ginelli, Raffaella Meneveri   +6 more
doaj   +3 more sources