A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
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Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscleRedox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyClinical and Pathological Heterogeneity of Korean Patients with CAPN3 MutationsNatural history of LGMD2A for delineating outcome measures in clinical trialsCalpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscleFailure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.How to tackle the diagnosis of limb-girdle muscular dystrophy 2A
P2860
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P2860
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
A third of LGMD2A biopsies hav ...... termined by an in vitro assay.
@en
A third of LGMD2A biopsies hav ...... termined by an in vitro assay.
@nl
type
label
A third of LGMD2A biopsies hav ...... termined by an in vitro assay.
@en
A third of LGMD2A biopsies hav ...... termined by an in vitro assay.
@nl
prefLabel
A third of LGMD2A biopsies hav ...... termined by an in vitro assay.
@en
A third of LGMD2A biopsies hav ...... termined by an in vitro assay.
@nl
P2093
P50
P1476
A third of LGMD2A biopsies hav ...... termined by an in vitro assay.
@en
P2093
Astrid Milic
Carinne Roudaut
Fanny Noulet
Isabelle Richard
Jérôme Poupiot
Lucia Morandi
Maggie C Walter
Nathalie Daniele
Reginald E Bittner
P304
P356
10.1016/J.NMD.2006.11.001
P577
2007-01-22T00:00:00Z