Results 351 to 360 of about 342,419 (394)

Muscular dystrophy

2010
Abstracts and keywords to be supplied.
openaire   +1 more source

Update on Muscular Dystrophies with Focus on Novel Treatments and Biomarkers

Current Neurology and Neuroscience Reports, 2020
N. Datta, P. Ghosh
semanticscholar   +1 more source

Distal muscular dystrophies

2011
Distal muscular dystrophies are a group of inherited primary muscle disorders showing progressive weakness and atrophy preferentially in the hands, forearm, lower legs, or feet. Extensive progress in understanding the molecular genetic background has changed the classification and extended the list of confirmed entities to almost 20 different disorders,
openaire   +3 more sources

Congenital muscular dystrophies

2001
Abstract The clinical diversity of CMD is suggested by the different degrees of motor develop- mental delay, physical disability and muscle pathology, and by the variable presence of mental retardation. Most of the efforts aimed at delineating and subdividing the various CMD forms have originated from the International Consortium on CMD,
Eugenio Mercuri, Francesco Muntoni
openaire   +1 more source

Oculopharyngeal muscular dystrophy

2010
Publisher Summary Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is usually transmitted as an autosomal dominant trait and a rarer allelic autosomal recessive form has also been ...
openaire   +4 more sources

Facioscapulohumeral muscular dystrophy

2001
Abstract The defining clinical features include the onset of weakness of the facial or shoulder girdle muscles, leading eventually to the wasting of these muscles (Fig. 8.1). Significant facial weakness is evident in more than half of all affected FSHD patients.
Meena Upadhyaya, David N. Cooper
openaire   +1 more source

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

Nature Medicine, 2022
Kevin A Strauss, , Laurent J Servais
exaly  

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Nature Medicine, 2022
Kevin A Strauss, Francesco Muntoni
exaly  

Untangling the complexity of limb‐girdle muscular dystrophies

Muscle and Nerve, 2018
T. Liewluck, M. Milone
semanticscholar   +1 more source

Muscular Dystrophies

1984
Michael Swash, Martin S. Schwartz
openaire   +1 more source