Results 191 to 200 of about 8,752 (229)

Emery-Dreifuss muscular dystrophy.

Genetic counseling (Geneva, Switzerland), 2004
The muscular dystrophies are a group of disorders, genetically determined, with progressive degeneration of muscle(s), without central nervous nor peripheral nerve abnormalities. The Emery-Dreifuss muscular dystrophy is one of these. We report a case with typical features.
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Emery-Dreifuss muscular dystrophy and other related disorders

British Medical Bulletin, 1989
There are some 30 or so different forms of muscular dystrophy which are conveniently classified according to the mode of inheritance. Emery-Dreifuss X-linked muscular dystrophy is characterized by the triad of: (1) early contractures of the elbows, Achilles tendons and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a ...
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Therapeutic approaches for Duchenne muscular dystrophy

Nature Reviews Drug Discovery, 2023
Thomas C Roberts, Kay E Davies
exaly  

Duchenne muscular dystrophy

Nature Reviews Disease Primers, 2021
Dongsheng Duan, Nathalie Goemans, Shin’ichi Takeda   +2 more
exaly  

Emery-Dreifuss Muscular Dystrophy Type 1

2014
Emery-Dreifuss muscular dystrophy (EDMD) is a progressive myopathy characterized by a clinical triad including slowly progressive muscle weakness and atrophy (initially with a humero-peroneal distribution but later becoming more diffuse); joint contractures of the Achilles, elbow, and neck tendons, beginning during early childhood and leading to ...
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Emery-Dreifuss muscular dystrophy

Journal of the Neurological Sciences, 1987
Hideo Hara, Hitoshi Nagara, Shiro Mawatari, Akira Kondo, Hiroshi Sato   +4 more
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Spinal muscular atrophy

Nature Reviews Disease Primers, 2022
Francesco Muntoni, Richard S Finkel
exaly  

Emery-Dreifuss Muscular Dystrophy Type 2

2014
Emery-Dreifuss muscular dystrophy (EDMD) is a progressive myopathy characterized by a clinical triad including slowly progressive muscle weakness and atrophy (initially with a humero-peroneal distribution but later becoming more diffuse); joint contractures of the Achilles, elbow, and neck tendons, beginning during early childhood and leading to ...
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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, Michelle A Farrar Mbbs
exaly  

Emery-Dreifuss Muscular Dystrophy Type 4

2017
The SYNE1 (synaptic nuclear envelope protein (1) gene encodes nesprin-1, a large protein characterized by the presence of multiple spectrin repeats which is highly expressed in striated muscles.
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