Results 71 to 80 of about 56,560 (289)

Exercise Intolerance in Facioscapulohumeral Muscular Dystrophy

Medicine & Science in Sports & Exercise, 2022
Purpose Determine 1) if adults with facioscapulohumeral muscular dystrophy (FSHD) exhibit exercise intolerance and 2) potential contributing mechanisms to exercise intolerance, specific to FSHD. Methods Eleven people with FSHD (47 ± 13 yr, 4 females) and
Kathryn Vera, M. McConville, Aline Glazos, William Stokes, M. Kyba, Manda L. Keller‐Ross   +5 more
semanticscholar   +1 more source

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. [PDF]

, 2015
BackgroundFacioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35.
Arne-Bes, M.C., Attarian, S., Bartoli, M., Bernard, R., Bouhour, F., Charles, E., Desnuelle, C., Echaniz-Laguna, A., Ferrer, X., Jouve, E., Kuntzer, T., Levy, N., Magdinier, F., Nadaj-Pakleza, A., Nguyen, K., Niederhauser, J., Ollagnon, E., Pouget, J., Sacconi, S., Salort-Campana, E., Solé, G., Tranchant, C., Vial, C.   +22 more
core   +4 more sources

Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy

Disability and Rehabilitation, 2022
Purpose To assess the psychosocial outcomes of facial weakness in facioscapulohumeral muscular dystrophy (FSHD). Materials and methods A cross-sectional survey study.
W. van de Geest-Buit, N. Rasing, K. Mul, J. C. Deenen, S. Vincenten, I. Siemann, A. Lanser, J. Groothuis, B. V. van Engelen, J. Custers, N. Voermans   +10 more
semanticscholar   +1 more source

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

Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy

Journal of Neurology, 2022
To evaluate the 5-year change in respiratory function in patients with facioscapulohumeral muscular dystrophy (FSHD). Genetically confirmed patients with FSHD aged ≥ 18 years were examined twice over five years.
S. Teeselink, S. Vincenten, N. Voermans, J. Groothuis, J. Doorduin, P. Wijkstra, C. Horlings, B. V. van Engelen, K. Mul   +8 more
semanticscholar   +1 more source

Facioscapulohumeral Muscular Dystrophy

Continuum
Fecek C, Emmady PD.
europepmc   +4 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   +4 more sources

Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach

Health Science Reports, 2022
This is the first national population‐based report about prenatal diagnosis for families with a history of facioscapulohumeral muscular dystrophy (FSHD), a complex hereditary disease.
M. F. Di Feo, Cinzia Bettio, V. Salsi, E. Bertucci, R. Tupler   +4 more
semanticscholar   +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