Results 31 to 40 of about 5,789 (161)

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy. [PDF]

Ann Neurol
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Mul K, McDermott MP, Butterfield RJ, Elsheikh B, Eichinger K, Johnson NE, Leung DG, LoRusso S, Lewis L, Martens WB, Shieh PB, Wang LH, Walker M, Tawil R, Statland JM, ReSolve Investigators of the FSHD‐CTRN.   +15 more
europepmc   +2 more sources

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity

Skeletal Muscle, 2020
Background All types of facioscapulohumeral muscular dystrophy (FSHD) are caused by the aberrant activation of the somatically silent DUX4 gene, the expression of which initiates a cascade of cellular events ultimately leading to FSHD pathophysiology ...
Takako I. Jones, Guo-Liang Chew, Pamela Barraza-Flores, Spencer Schreier, Monique Ramirez, Ryan D. Wuebbles, Dean J. Burkin, Robert K. Bradley, Peter L. Jones   +8 more
doaj   +1 more source

Apabetalone, a Clinical-Stage, Selective BET Inhibitor, Opposes DUX4 Target Gene Expression in Primary Human FSHD Muscle Cells

Biomedicines, 2023
Facioscapulohumeral dystrophy (FSHD) is a muscle disease caused by inappropriate expression of the double homeobox 4 (DUX4) gene in skeletal muscle, and its downstream activation of pro-apoptotic transcriptional programs.
Christopher D. Sarsons, Dean Gilham, Laura M. Tsujikawa, Sylwia Wasiak, Li Fu, Brooke D. Rakai, Stephanie C. Stotz, Agostina Carestia, Michael Sweeney, Ewelina Kulikowski   +9 more
doaj   +1 more source

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

Orphanet Journal of Rare Diseases, 2021
Background The Italian Clinical network for FSHD (ICNF) has established the Italian National Registry for FSHD (INRF), collecting data from patients affected by Facioscapulohumeral dystrophy (FSHD) and their relatives.
Cinzia Bettio, Valentina Salsi, Mirko Orsini, Enrico Calanchi, Luca Magnotta, Luca Gagliardelli, June Kinoshita, Sonia Bergamaschi, Rossella Tupler   +8 more
doaj   +1 more source

miRNA expression in control and FSHD fetal human muscle biopsies.

PLoS ONE, 2015
BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD are already expressed in fetal FSHD biopsies, thus ...
Débora Morueco Portilho, Marcelo Ribeiro Alves, Gueorgui Kratassiouk, Stéphane Roche, Frédérique Magdinier, Eliane Corrêa de Santana, Anna Polesskaya, Annick Harel-Bellan, Vincent Mouly, Wilson Savino, Gillian Butler-Browne, Julie Dumonceaux   +11 more
doaj   +1 more source

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   +1 more source

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

, 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

Estrogenic hormones counteract FSHD features in a muose model of muscle regeneration

, 2021
The wide range of clinical symptoms in FSHD patients suggests the presence of modifying factors, still partially explored. Our group demonstrated that estrogens improve in vitro muscle differentiation of myoblasts from FSHD patients. Estrogens, through
Deidda G, Di Blasio G, Rizzi R, Manni I, Moretti F, Ricci E, Teveroni E, Maiullari F, Luvisetto S   +8 more
core  

Estrogenic hormones counteract FSHD features in a mouse model of muscle regeneration.

, 2021
The wide range of clinical symptoms in FSHD patients suggests the presence of modifying factors, still partially explored. Our group demonstrated that estrogens improve in vitro muscle differentiation of myoblasts from FSHD patients.
Fabiola Moretti, Siro Luvisetto, Silvia Maiullari, Fabio Maiullari, Roberto Rizzi, Enzo Ricci, Giorgia di Blasio, Giancarlo Deidda, Isabella Manni, Emanuela Teveroni   +9 more
core  

Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy

, 2017
INTRODUCTION: In preparation for future clinical trials, we determined the reliability, relationship to measures of disease severity, and consistency across sites of the 6 Minute Walk Test (6MWT) in patients with facioscapulohumeral muscular dystrophy ...
Grosmann, Carla, Heatwole, Chad, Stinson, Nikia, Matichak Stock, Carly, Wagner, Kathryn R., Statland, Jeffrey M., Eichinger, Katy, FSHD Clinical Trials Research Network, Tawil, Rabi, Heininger, Susanne   +9 more
core   +1 more source