Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
about
Structure and physiological function of calpainsMultiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical originsExpression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional eventsMaking sense of the limb-girdle muscular dystrophies.Limb-girdle Muscular Dystrophies in India: A Review.Phenotypic variability in siblings with calpainopathy (LGMD2A).Diagnostic protein expression in human muscle biopsies.Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.The heart in limb girdle muscular dystrophy.A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 familiesDifferential expression profiling between the relative normal and dystrophic muscle tissues from the same LGMD patient.Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2ALoss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3Natural history of LGMD2A for delineating outcome measures in clinical trialsCalpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members.Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.Prevalence of neuromuscular disorders in Qena governorate/Egypt: population-based survey.Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal componentsCorrelations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.Calpainopathy-a survey of mutations and polymorphisms.Dominant LGMD2A: alternative diagnosis or hidden digenism?FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers
P2860
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P2860
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
description
1996 nî lūn-bûn
@nan
1996 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Juvenile limb-girdle muscular ...... living in the Reunion Island.
@ast
Juvenile limb-girdle muscular ...... living in the Reunion Island.
@en
Juvenile limb-girdle muscular ...... living in the Reunion Island.
@nl
type
label
Juvenile limb-girdle muscular ...... living in the Reunion Island.
@ast
Juvenile limb-girdle muscular ...... living in the Reunion Island.
@en
Juvenile limb-girdle muscular ...... living in the Reunion Island.
@nl
prefLabel
Juvenile limb-girdle muscular ...... living in the Reunion Island.
@ast
Juvenile limb-girdle muscular ...... living in the Reunion Island.
@en
Juvenile limb-girdle muscular ...... living in the Reunion Island.
@nl
P2093
P356
P1433
P1476
Juvenile limb-girdle muscular ...... living in the Reunion Island.
@en
P2093
Beckmann J
Feingold J
Feingold N
Hillaire D
P304
P356
10.1093/BRAIN/119.1.295
P407
P478
119 ( Pt 1)
P577
1996-02-01T00:00:00Z