Clinical variability in calpainopathy: what makes the difference?
about
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophyLimb-girdle Muscular Dystrophies in India: A Review.Protein defects in neuromuscular diseases.Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 MutationsNatural history of LGMD2A for delineating outcome measures in clinical trialsScreening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.Neuromuscular disorders: genes, genetic counseling and therapeutic trialsMutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.Neurogenetic disorders in the Basque population.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Pericytes Extend Survival of ALS SOD1 Mice and Induce the Expression of Antioxidant Enzymes in the Murine Model and in IPSCs Derived Neuronal Cells from an ALS Patient.Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.How to tackle the diagnosis of limb-girdle muscular dystrophy 2ACAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.Early onset calpainopathy with normal non-functional calpain 3 level.Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.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.Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
P2860
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P2860
Clinical variability in calpainopathy: what makes the difference?
description
2002 nî lūn-bûn
@nan
2002年の論文
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2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
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2002年學術文章
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name
Clinical variability in calpainopathy: what makes the difference?
@en
Clinical variability in calpainopathy: what makes the difference?
@nl
type
label
Clinical variability in calpainopathy: what makes the difference?
@en
Clinical variability in calpainopathy: what makes the difference?
@nl
prefLabel
Clinical variability in calpainopathy: what makes the difference?
@en
Clinical variability in calpainopathy: what makes the difference?
@nl
P2093
P2860
P50
P356
P1476
Clinical variability in calpainopathy: what makes the difference?
@en
P2093
Flávia de Paula
Louise V B Anderson
Rita de Cássia M Pavanello
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5200888
P577
2002-12-01T00:00:00Z