Results 41 to 50 of about 8,309 (264)

Acupuncture Improves the Facial Muscular Function in a Case of Facioscapulohumeral Muscular Dystrophy

Journal of Acupuncture & Meridian Studies, 2019
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which muscles of the face, shoulder blades, and upper arms develop gradual and progressive weakness.
Yutan Liu, Fei Xiao, Xibin Liang
doaj   +1 more source

Orofacial Manifestations Associated with Muscular Dystrophies: A Review

Turkish Journal of Orthodontics, 2022
The aim of this review is to evaluate the developmental, functional, and morphological aspects of the craniofacial complex in patients with myotonic dystrophy type 1 (DM1), Facioscapulohumeral muscular dystrophy (FSHD), and Duchenne muscular dystrophy ...
Petros Papaefthymiou, Kyriaki Kekou, Fulya Özdemir   +2 more
doaj   +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   +3 more sources

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy

Frontiers in Genome Editing, 2022
Facioscapulohumeral dystrophy (FSHD) is a skeletal muscle disease caused by the aberrant expression of the DUX4 gene in the muscle tissue. To date, different therapeutic approaches have been proposed, targeting DUX4 at the DNA, RNA or protein levels. The
Virginie Mariot, Julie Dumonceaux
doaj   +1 more source

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2009
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett, Donaghy, Farmer, Forst, Forst, Geboers, Geboers, Geboers, Germain, Hove, Hyde, Jadad, Jaivin, Kooi, Kooi, Kooi, Kooi, Lindeman, Manzur, Manzur, Matjaic, McDonald, Olsen, Refshauge, Richardson, Rideau, Rozier, Sackley, Tropp, Tulder, Turner-Stokes, Vigasio, Wiesinger, Wiesseman   +33 more
core   +1 more source

miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies [PDF]

, 2015
International audienceBackground :Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD are already expressed in fetal
Butler-Browne, Gillian, Corrêa De Santana, Eliane, Dumonceaux, Julie, Harel-Bellan, Annick, Kratassiouk, Gueorgui, Magdinier, Frédérique, Mouly, Vincent, Polesskaya, Anna, Portilho, Débora, Ribeiro Alves, Marcelo, Roche, Stéphane, Savino, Wilson   +11 more
core   +9 more sources

FSHD muscular dystrophy Region Gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis [PDF]

, 2013
Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD
Bortolanza S, Caccia R, CORONA, Davide, Gabellini D., Godio C, Neguembor MV, Onorati MC, Pistoni M, Schotta G, Xynos A   +9 more
core   +1 more source

Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA

Cell Reports, 2018
Summary: Double homeobox (DUX) transcription factors are unique to eutherian mammals. DUX4 regulates expression of repetitive elements during early embryogenesis, but misexpression of DUX4 causes facioscapulohumeral muscular dystrophy (FSHD) and ...
John K. Lee, Darko Bosnakovski, Erik A. Toso, Tracy Dinh, Surajit Banerjee, Thomas E. Bohl, Ke Shi, Kayo Orellana, Michael Kyba, Hideki Aihara   +9 more
doaj   +1 more source

Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy

Nature Communications, 2021
Facioscapulohumeral muscular dystrophy is a myopathy caused by aberrant de-repression of the DUX4 gene. Here, the authors show that miR-675 inhibits DUX4 expression and protects muscles from DUX4-mediated cell death when administered to mice using AAV ...
Nizar Y. Saad, Mustafa Al-Kharsan, Sara E. Garwick-Coppens, Gholamhossein Amini Chermahini, Madison A. Harper, Andrew Palo, Ryan L. Boudreau, Scott Q. Harper   +7 more
doaj   +1 more source

Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment

Neurologijos seminarai, 2023
Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy characterised by weakness of the face, scapula, upper arm, and other muscles.
T. Mikalauskas, B. Burnytė
doaj   +3 more sources