Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
about
Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscleObscurin determines the architecture of the longitudinal sarcoplasmic reticulum.Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.Muscle giants: molecular scaffolds in sarcomerogenesis.Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.Prevalence of Titin Truncating Variants in General Population.Titin mutation segregates with hereditary myopathy with early respiratory failure.Genetic elevation of sphingosine 1-phosphate suppresses dystrophic muscle phenotypes in Drosophila.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.Ankyrin protein networks in membrane formation and stabilization.Muscular dystrophies: an update on pathology and diagnosis.Genetic basis of limb-girdle muscular dystrophies: the 2014 updateA rising titan: TTN review and mutation update.Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.The sarcomeric M-region: a molecular command center for diverse cellular processes.Exon- and contraction-dependent functions of titin in sarcomere assembly.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Cis-splicing and translation of the pre-trans-splicing molecule combine with efficiency in spliceosome-mediated RNA trans-splicingInteractions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophiesThe first Italian family with tibial muscular dystrophy caused by a novel titin mutation.Atypical phenotypes in titinopathies explained by second titin mutations.Hereditary myopathy with early respiratory failure: occurrence in various populations.A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN.Dominant LGMD2A: alternative diagnosis or hidden digenism?Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Congenital titinopathy: Comprehensive characterisation and pathogenic insights.CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.Limb Girdle Muscular Dystrophies
P2860
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P2860
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
description
2005 nî lūn-bûn
@nan
2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Titinopathies and extension of ...... nd distal myopathy and LGMD2J.
@ast
Titinopathies and extension of ...... nd distal myopathy and LGMD2J.
@en
Titinopathies and extension of ...... nd distal myopathy and LGMD2J.
@nl
type
label
Titinopathies and extension of ...... nd distal myopathy and LGMD2J.
@ast
Titinopathies and extension of ...... nd distal myopathy and LGMD2J.
@en
Titinopathies and extension of ...... nd distal myopathy and LGMD2J.
@nl
prefLabel
Titinopathies and extension of ...... nd distal myopathy and LGMD2J.
@ast
Titinopathies and extension of ...... nd distal myopathy and LGMD2J.
@en
Titinopathies and extension of ...... nd distal myopathy and LGMD2J.
@nl
P2093
P1433
P1476
Titinopathies and extension of ...... nd distal myopathy and LGMD2J.
@en
P2093
P304
P356
10.1212/01.WNL.0000151853.50144.82
P407
P577
2005-02-01T00:00:00Z