Results 51 to 60 of about 7,021 (220)

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source

A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy‐Affected Skeletal Muscles

Stem Cells Translational Medicine, 2016
Facioscapulohumeral muscular dystrophy (FSHD) represents a major unmet clinical need arising from the progressive weakness and atrophy of skeletal muscles. The dearth of adequate experimental models has severely hampered our understanding of the disease.
Leslie Caron, Devaki Kher, Kian Leong Lee, Robert McKernan, Biljana Dumevska, Alejandro Hidalgo, Jia Li, Henry Yang, Heather Main, Giulia Ferri, Lisa M. Petek, Lorenz Poellinger, Daniel G. Miller, Davide Gabellini, Uli Schmidt   +14 more
doaj   +1 more source

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

Frontiers in Neurology, 2021
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and predominantly affects facial and shoulder girdle muscles. Previous case reports and cohort studies identified minor cardiac abnormalities in FSHD
Allison Ducharme-Smith, Stefan Nicolau, C. Anwar A. Chahal, C. Anwar A. Chahal, C. Anwar A. Chahal, Kirstie Ducharme-Smith, Shujah Rehman, Keerthi Jaliparthy, Nadeem Khan, Christopher G. Scott, Erik K. St Louis, Teerin Liewluck, Virend K. Somers, Grace Lin, Peter A. Brady, Margherita Milone   +15 more
doaj   +1 more source

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]

, 2017
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed, A McKenna, A-V Gendrel, A-V Gendrel, Abdelaziz Sefiani, Alex C Magee, Alexandra D Gurzau, Asif Javed, Audrey S M Teo, AW Mould, Axel M Hillmer, B Brasseur, Bernd Wollnik, Bruno Reversade, C Bock, Camille Dion, Carine Bonnard, Chalermpong Chatdokmaiprai, Christine Bole-Feysot, Christopher T Gordon, Denise Williams, Dieter Meschede, Duangrurdee Wattanasirichaigoon, F Magdinier, Frédérique Magdinier, GA Van der Auwera, Gökhan Tunçbilek, Gökhan Yigit, H Coker, H Li, H Mishima, Hallvard Reigstad, Hicham Filali, HL Szabo-Rogers, Holger Thiele, Hülya Kayserili, IA Adzhubei, Ilham Ratbi, J Harrow, James M Murphy, Janine Altmüller, JB Tryggestad, JC de Greef, JD Thompson, JE Hewitt, Jeanne Amiel, JM Graham Jr., K Chen, K Chen, K Wang, Kelan Chen, Koh-ichiro Yoshiura, L-C Li, LA Kelley, M Tang, M-C Gaillard, M-C Gaillard, MA DePristo, Marnie E Blewitt, MD Nickell, ME Blewitt, Meriem Fikri, Michael L Cunningham, Mung Kei Kong, Myriam Oufadem, N Rosin, Nadine Rosin, Nawfal Fejjal, Nicola Ragge, Nicolas Lévy, NJ Brideau, Nobuhiko Okamoto, NS Verkaik, P Flicek, P Kumar, Patrick Nitschké, PE Forni, Peter Nürnberg, R Dutta, R-S Nozawa, Rachel Irving, RJLF Lemmers, RJLF Lemmers, RJLF Lemmers, Ruth McGowan, S Faisal Ahmed, S Sacconi, Sabine Sigaudy, Shifeng Xue, Siham Chafai Elalaoui, ST Sherry, Stanislas Lyonnet, Tamara J Beck, Vinod Varghese, Wolfgang Mühlbauer, X Liu, X Liu, X Robert   +97 more
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Facioscapulohumeral muscular dystrophy [PDF]

Rare Diseases, 2013
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and
Stadler, Guido, King, Oliver D., Robin, Jerome D., Shay, Jerry W., Wright, Woodring E.   +4 more
openaire   +4 more sources

Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2014
Telomeres may regulate human disease by at least two independent mechanisms. 1) Replicative senescence occurs once short telomeres generate DNA damage signals that produce a barrier to tumor progression.
Chen, Jennifer C. J., Emerson, Charles P., King, Oliver D., Rahimov, Fedik, Robin, Jerome D., Shay, Jerry W., Stadler, Guido, Wagner, Kathryn R., Wright, Woodring E.   +8 more
core   +1 more source

Genetics of Facioscapulohumeral Dystrophy

Pediatric Neurology Briefs, 1996
The relationship of phenotype to genotype in a clinically and genetically well defined population of 157 affected patients and 62 kindreds with facioscapulohumeral muscular dystrophy (FSHD) was examined at the University of Rochester School of Medicine ...
J Gordon Millichap
doaj   +1 more source

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report [PDF]

, 2016
International audienceBackground: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence of D4Z4 reduction (FSHD2).
Attarian, Shahram, Bartoli, Marc, Bernard, Rafaelle, Campana Salort, Emmanuelle, Chaix, Charlene, Dion, Camille, Dumonceaux, Julie, Gaillard, Marie-Cécile, Lévy, Nicolas, Magdinier, Frédérique, Mariot, Virginie, Mazaleyrat, Kilian, Nguyen, Karine, Puppo, Francesca, Roche, Stéphane, Tasmadjian, Armand, Vovan, Catherine   +16 more
core   +3 more sources

Facioscapulohumeral Muscular Dystrophy

Neurotherapeutics, 2004
Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the development of targeted therapeutic interventions.
openaire   +8 more sources

Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy [PDF]

, 2016
Background: Previous randomized controlled trials investigating exercise training programs in facioscapulohumeral muscular dystrophy (FSHD) patients are scarce and of short duration only.
Antoine, Jean-Christophe, Bachasson, Damien, Bankolé, Landry-Cyrille, Féasson, Léonard, Kadi, Fawzi, Millet, Guillaume, Ponsot, Elodie, Ravelojaona, Marion, Temesi, John, Verges, Samuel, Wuyam, Bernard   +10 more
core   +3 more sources