LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
about
Skeletal muscle-specific calpain is an intracellular Na+-dependent proteaseGene expression profiling in limb-girdle muscular dystrophy 2ALimb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.Phenotypic variability in siblings with calpainopathy (LGMD2A).Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.Calpain chronicle--an enzyme family under multidisciplinary characterizationAutosomal recessive limb-girdle muscular dystrophies in the Czech RepublicAnalysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 MutationsNatural history of LGMD2A for delineating outcome measures in clinical trialsCalpain 3 deficiency affects SERCA expression and function in the skeletal muscle.Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscleTherapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?Dysregulation of calcium homeostasis in muscular dystrophies.Neurogenetic disorders in the Basque population.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.How to tackle the diagnosis of limb-girdle muscular dystrophy 2AAncestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).Left ventricular deformation abnormalities in a patient with calpainopathy-a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study.Assessing the Role of Muscle Protein Breakdown in Response to Nutrition and Exercise in Humans.Dominant LGMD2A: alternative diagnosis or hidden digenism?cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.Limb-girdle muscular dystrophy type 2A in Brazilian children.Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.Limb Girdle Muscular Dystrophies
P2860
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P2860
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
LGMD2A: genotype-phenotype cor ...... survey on the calpain 3 gene.
@en
LGMD2A: genotype-phenotype cor ...... survey on the calpain 3 gene.
@nl
type
label
LGMD2A: genotype-phenotype cor ...... survey on the calpain 3 gene.
@en
LGMD2A: genotype-phenotype cor ...... survey on the calpain 3 gene.
@nl
prefLabel
LGMD2A: genotype-phenotype cor ...... survey on the calpain 3 gene.
@en
LGMD2A: genotype-phenotype cor ...... survey on the calpain 3 gene.
@nl
P2093
P50
P356
P1433
P1476
LGMD2A: genotype-phenotype cor ...... l survey on the calpain 3 gene
@en
P2093
Bonnemann C
Emparanza J
Figarella-Branger D
Gutiérrez-Rivas E
P304
P356
10.1093/BRAIN/AWH408
P407
P50
P577
2005-02-02T00:00:00Z