Results 31 to 40 of about 7,807 (220)

Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy

Frontiers in Physiology, 2020
BackgroundSarcopenic obesity has been observed in people with neuromuscular impairment, and is linked to adverse health outcomes. It is unclear, however, if sarcopenic obesity develops in adults with facioscapulohumeral muscular dystrophy (FSHD ...
Kathryn A. Vera, Kathryn A. Vera, Mary McConville, Michael Kyba, Manda L. Keller-Ross, Manda L. Keller-Ross   +5 more
doaj   +1 more source

Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target

Redox Biology, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by descending skeletal muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor DUX4, which is linked to oxidative stress, a condition especially detrimental ...
Philipp Heher, Massimo Ganassi, Adelheid Weidinger, Elise N. Engquist, Johanna Pruller, Thuy Hang Nguyen, Alexandra Tassin, Anne-Emilie Declèves, Kamel Mamchaoui, Christopher R.S. Banerji, Johannes Grillari, Andrey V. Kozlov, Peter S. Zammit   +12 more
doaj   +1 more source

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data [PDF]

, 2017
Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing.
Brouwer, Oebele F., Dorobek, Malgorzata, Erasmus, Corrie E., Goselink, Rianne J. M., Mah, Jean K., Nikolic, Ana, Okkersen, Kees, Padberg, George W., Schreuder, Tim H. A., Tupler, Rossella, Van Engelen, Baziel G. M., Voermans, Nicol C.   +11 more
core   +16 more sources

ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy

Redox Biology, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by progressive muscle weakness. Adenine nucleotide translocator 1 (ANT1), the only 4q35 gene involved in mitochondrial function, is strongly expressed in FSHD ...
Sandrine Arbogast, Heinrich Kotzur, Corinna Frank, Nathalie Compagnone, Thibault Sutra, Fabien Pillard, Sylvia Pietri, Nisrine Hmada, Daouda Moustapha Abba Moussa, Jamie Bride, Sarah Françonnet, Jacques Mercier, Jean-Paul Cristol, Marie-Christine Dabauvalle, Dalila Laoudj-Chenivesse   +14 more
doaj   +1 more source

Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers

Scientific Reports, 2022
With several therapeutic strategies for facioscapulohumeral muscular dystrophy (FSHD) entering clinical testing, outcome measures are becoming increasingly important.
Anita van den Heuvel, Saskia Lassche, Karlien Mul, Anna Greco, David San León Granado, Arend Heerschap, Benno Küsters, Stephen J. Tapscott, Nicol C. Voermans, Baziel G. M. van Engelen, Silvère M. van der Maarel   +10 more
doaj   +1 more source

FSHD myotubes with different phenotypes exhibit distinct proteomes. [PDF]

PLoS ONE, 2012
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder linked to a contraction of the D4Z4 repeat array in the 4q35 subtelomeric region.
Alexandra Tassin, Baptiste Leroy, Dalila Laoudj-Chenivesse, Armelle Wauters, Céline Vanderplanck, Marie-Catherine Le Bihan, Frédérique Coppée, Ruddy Wattiez, Alexandra Belayew   +8 more
doaj   +1 more source

Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study

JMIR Formative Research, 2023
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disease. Its slow and variable progression makes the development of new treatments highly dependent on validated biomarkers that can quantify ...
Ahnjili Zhuparris, Ghobad Maleki, Ingrid Koopmans, Robert J Doll, Nicoline Voet, Wessel Kraaij, Adam Cohen, Emilie van Brummelen, Joris H De Maeyer, Geert Jan Groeneveld   +9 more
doaj   +1 more source

Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

EMBO Molecular Medicine, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal muscle weakness and wasting. FSHD is linked to epigenetic derepression of the subtelomeric D4Z4 macrosatellite at chromosome 4q35.
Christopher R S Banerji, Peter S Zammit
doaj   +1 more source

Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns.

PLoS ONE, 2011
BackgroundDetermine global gene dysregulation affecting 4q-linked (FSHD-1) and non 4q-linked (FSHD-2) cells during early stages of myogenic differentiation.
Stefania Cheli, Stephanie François, Beatrice Bodega, Francesco Ferrari, Elena Tenedini, Enrica Roncaglia, Sergio Ferrari, Enrico Ginelli, Raffaella Meneveri   +8 more
doaj   +1 more source

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly, Fitzgerald, Bryan, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., III, Parkhill, Amy L., Smith, Joanne, Walker, Andrew   +7 more
core   +2 more sources