Results 131 to 140 of about 8,309 (264)

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

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? [PDF]

, 2011
Mark Richards, Frédérique Coppée, Nick Thomas, Alexandra Belayew, Meena Upadhyaya   +4 more
openalex   +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  

Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy

, 1993
Rabi Tawil, D. Storvick, Barbara Weiffenbach, Michael R. Altherr, Thomas E. Feasby, Robert C. Griggs   +5 more
openalex   +1 more source

Fascioscapulohumeral muskeldystrofi [PDF]

Tidsskrift for Den norske legeforening, 2021
Kari Anne Bjørnarå, Bård Bjørnarå, Jana Pospisilova   +2 more
openaire   +3 more sources

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

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 [PDF]

, 2012
Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm, Yvonne D. Krom, Rinse Klooster, Yu Sun, Johan T. den Dunnen, Quinta Helmer, Colleen M. Donlin‐Smith, George W. Padberg, Baziel G.M. van Engelen, Jessica C. de Greef, Annemieke Aartsma‐Rus, Rune R. Frants, Marjolein Visser, Claude Desnuelle, Sabrina Sacconi, Galina N. Filippova, Egbert Bakker, Michael J. Bamshad, Stephen J. Tapscott, Daniel G. Miller, Silvère M. van der Maarel   +29 more
openalex   +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

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy [PDF]

, 2013
Saskia Lassche, Ger J.M. Stienen, Tom Irving, Silvère M. van der Maarel, Nicol C. Voermans, George W. Padberg, Henk Granzier, Baziel G.M. van Engelen, Coen A. C. Ottenheijm   +8 more
openalex   +1 more source

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