Results 141 to 150 of about 55,263 (257)

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report

Frontiers in Genetics
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns.
Menglin Tan, Huiyi Huo, Jieming Feng, Chandi Wang, Suhua Jiang   +4 more
doaj   +1 more source

p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models

Nature Genetics, 2021
Edward J. Grow, Bradley D. Weaver, Christina M. Smith, Jingtao Guo, P. Stein, Sean C. Shadle, P. Hendrickson, N. Johnson, R. Butterfield, R. Menafra, S. Kloet, S. M. van der Maarel, C. Williams, B. Cairns   +13 more
semanticscholar   +1 more source

Meeting report: the 2020 FSHD International Research Congress

Skeletal Muscle, 2020
Michael Kyba, Robert J. Bloch, Julie Dumonceaux, Scott Q. Harper, Silvère M. van der Maarel, Francis M. Sverdrup, Kathryn R. Wagner, Baziel van Engelen, Yi-Wen Chen   +8 more
doaj   +1 more source

Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy

Neuromuscular Disorders, 2023
Neuromuscular Disorders, S. Vincenten, S. Teeselink, N. Voermans, B. V. Engelen, K. Mul, N. Alfen   +6 more
semanticscholar   +1 more source

Osmolytes as mediators of the muscle tissue’s responses to inflammation : emerging regulators of myositis with therapeutic potential [PDF]

, 2017
Chronic inflammation of skeletal muscle tissues termed myositis is associated with inherited muscular dystrophy and with acquired inflammatory myopathy.
De Paepe, Boel
core   +1 more source

معرفی يک تکنيک جديد در درمان ناپايداری مفصل کتفی ـ سينه‌ای، در بيماران مبتلا به ديستروفی عضلانی صورتی ـ کتفی ـ بازويی [PDF]

, 2004
در اين مطالعه تکنيک جديدی که طی سالهای 1367 تا 1378 برای آرترودز مفصل کتفی ـ سينه‌ای در 6 بيمار(8 شانه) مورد استفاده قرار گرفته است توضيح داده می‌شود.
ابوالقاسميان, منصور, عيوض‌ضيايی, مجید   +1 more
core  

Corrigendum: Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy

Frontiers in Physiology, 2022
Kathryn Vera, Kathryn Vera, Mary McConville, Michael Kyba, Manda Keller-Ross, Manda Keller-Ross   +5 more
doaj   +1 more source

Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy

Stem Cell Research
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically complex condition marked by progressive skeletal muscle weakness, primarily affecting the face, shoulders, and upper arms.
Ravichandra Venkateshappa, Francesca Vacante, Lingyun Xu, Gabriela Canel-Rivero, John W. Day, Joseph C. Wu   +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
P. Heher, M. Ganassi, A. Weidinger, Elise N. Engquist, J. Pruller, T. Nguyen, A. Tassin, Anne-Émilie Declèves, K. Mamchaoui, J. Grillari, A. Kozlov, P. Zammit   +11 more
semanticscholar   +1 more source

Facioscapulohumeral muscular dystrophy [PDF]

, 2020
openaire   +2 more sources