Results 231 to 236 of about 9,445 (236)

Improving molecular and histopathology in diaphragm muscle of the double transgenic ACTA1-MCM/FLExDUX4 mouse model of FSHD with systemic antisense therapy.

Human Gene Therapy, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is a rare muscle dystrophy causing muscle weakness initially in the face, shoulders and upper arms, and extended to lower body muscles as the disease progresses.
Ngoc B Lu-Nguyen, A. Malerba, Marina Antoni Pineda, G. Dickson, L. Popplewell   +4 more
semanticscholar   +1 more source

A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD)

Muscle and Nerve
In preparation for clinical trials, it is important to better understand how disease burden changes over time in facioscapulohumeral muscular dystrophy (FSHD) and to assess the capability of select metrics to detect these changes.
A. Varma, Michael S Todinca, K. Eichinger, Susanne Heininger, N. Dilek, William B. Martens, R. Tawil, J. Statland, J. Kissel, Michael P. McDermott, C. Heatwole   +10 more
semanticscholar   +1 more source

Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype

Science Advances
The most common form of facioscapulohumeral dystrophy (FSHD1) is caused by a partial loss of the D4Z4 macrosatellite repeat array in the subtelomeric region of chromosome 4.
Yinxing Ma, Anna Schwager Karpukhina, Carla Dib, Candice Gautier, O. Hermine, Eric Allemand, Y. Vassetzky   +6 more
semanticscholar   +1 more source

Systemic Pharmacotherapeutic Treatment of the ACTA1-MCM/FLExDUX4 Preclinical Mouse Model of FSHD

International Journal of Molecular Sciences
Aberrant expression of the double homeobox 4 (DUX4) gene in skeletal muscle predominantly drives the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD).
Ngoc B Lu-Nguyen, Stuart G Snowden, L. Popplewell, A. Malerba   +3 more
semanticscholar   +1 more source

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).

Journal of Neurology
S. Attarian, S. Beloribi-Djefaflia, Rafaëlle Bernard, Karine Nguyen, C. Cances, Carole Gavazza, A. Echaniz-Laguna, C. Espil, Teresinha Evangelista, Léonard Féasson, F. Audic, B. Zagorda, Virginie Milhe De Bovis, T. Stojkovic, G. Solé, E. Salort-Campana, S. Sacconi   +16 more
semanticscholar   +1 more source