Results 221 to 230 of about 55,263 (257)

Duchenne muscular dystrophy

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

Muscular Dystrophy, Facioscapulohumeral

, 2014
Carla Cde Baca
semanticscholar   +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, Michelle A Farrar Mbbs
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, Michelle A Farrar Mbbs, Francesco Muntoni   +2 more
exaly  

[Infantile facioscapulohumeral muscular dystrophy].

Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1992
The authors describe a 16-year-old patient suffering from facial scapulohumeral myopathy. The given case is regarded as sporadic. The disease was characterized by an early debut and rapid progression of neuromuscular disorders. Marked myasthenia and muscular atrophy of the face, shoulders, thighs, as well as contractures in the knee joints, hands and ...
L O, Badalian, P A, Temin, K Iu, Mukhin, N V, Bulaeva, N N, Zavadenko, M Iu, Nikanorova, R V, Shnaĭdman, V L, Lysov   +7 more
openaire   +1 more source

Facioscapulohumeral Muscular Dystrophy

2023
Johanna Hamel, Rabi Tawil
openaire   +1 more source

[Facioscapulohumeral muscular dystrophy (FSHD)].

Nihon rinsho. Japanese journal of clinical medicine, 1998
Facioscapulohumeral muscular dystrophy (FSHD; MIM 158900) is one of the major forms of muscular dystrophy, and is inherited in an autosomal dominant fashion. In most patients with FSHD, deletion of 3.3 kb tandemly repeated units within the EcoRI fragment, as detected by p13E-11 (D4F104S1) on chromosome 4q35, is associated with the disease (FSHD1A or ...
M, Funakoshi, K, Goto, B Y, Kim, K, Arahata   +3 more
openaire   +1 more source

Cancer Frequency and Type in Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy, and Oculopharyngeal Muscular Dystrophy: A 23-year, Single-center, Retrospective Study (P3-11.004)

Neurology
Naman Bareja, M. Vytopil, Jayashri Srinivasan, Mehdi Ghasemi   +3 more
semanticscholar   +1 more source

Therapeutic approaches for Duchenne muscular dystrophy

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

Spinal muscular atrophy

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