The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Item
http://www.wikidata.org/entity/Q43242950
Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titinStructural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complexBiophysical characterization of naturally occurring titin M10 mutationsGene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.Titin and obscurin: giants holding hands and discovery of a new Ig domain subsetIncreasing Role of Titin Mutations in Neuromuscular Disorders.Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.The sarcomeric M-region: a molecular command center for diverse cellular processes.Atypical phenotypes in titinopathies explained by second titin mutations.Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.[Titin-related muscle disorders: an expanding spectrum].CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
P2860

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Item
http://www.wikidata.org/entity/Q43242950
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
@en
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
@nl
type
label
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
@en
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
@nl
prefLabel
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
@en
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921