Results 51 to 60 of about 1,730 (187)
, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077) +7 more
core +1 more source
Frontiers in Neuroscience, 2022 BackgroundTo characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.MethodsA descriptive observational study was done on a cohort of 112 Saudi Arabian families ...
Norah Alharbi +10 more
doaj +1 more source
Frontiers in Neurology, 2021 Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the mutational spectrum of dysferlinopathies, to further study one case with diagnostic ambiguity, and to identify the diagnostic value of dysferlin expression in total ...
Huili Zhang +5 more
doaj +1 more source
, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077) +7 more
core +1 more source
, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077) +7 more
core +1 more source
Diagnostics, 2020 Limb-girdle muscular dystrophy type R2 dysferin-related (LGMD R2 dysferin-related), a phenotype of dysferlinopathy, usually begins with pelvic girdle weakness.
Du Hwan Kim, Dae-Hyun Jang, Ja-Hyun Jang
doaj +1 more source
, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077) +7 more
core +1 more source
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, Volume 26, Issue 9, Page 6-23, September 2026.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Thrombospondin-1 and disease progression in dysferlinopathy [PDF]
Human Molecular Genetics, 2017 The purpose of this study was to determine whether thrombospondin (TSP)-1 promotes macrophage activity and disease progression in dysferlinopathy. First, we found that levels of TSP-1 are elevated in blood of non-ambulant dysferlinopathy patients compared with ambulant patients and healthy controls, supporting the idea that TSP-1 levels are correlated ...
Norifumi Urao +5 more
openaire +2 more sources
THE CHALLENGING DIAGNOSIS OF DYSFERLINOPATHY – A CASE REPORT
Romanian Journal of Neurology, 2021 Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset and an intermediate proximo-distal phenotype.
Claudiu Gabriel Socoliuc +4 more
openaire +2 more sources