Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
about
Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.Myofibrillar myopathies: new developments.Mechano-signaling in heart failurePhosphorylation of NBR1 by GSK3 modulates protein aggregation.Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic originsUnusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyDesminopathies: pathology and mechanisms.Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.Increasing Role of Titin Mutations in Neuromuscular Disorders.Filamin C-related myopathies: pathology and mechanisms.Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failureB3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.Myosinopathies: pathology and mechanisms.Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.Structure of giant muscle proteins.A rising titan: TTN review and mutation update.Diagnosis of muscle diseases presenting with early respiratory failure.Mitochondrial abnormalities in the myofibrillar myopathies.Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood.Hereditary myopathies with early respiratory insufficiency in adults.Myopathology in the times of modern genetics.Next generation sequencing (NGS) strategies for the genetic testing of myopathies.Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Atypical phenotypes in titinopathies explained by second titin mutations.Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare.Hereditary myopathy with early respiratory failure: occurrence in various populations.Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency.A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN.Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.[Titin-related muscle disorders: an expanding spectrum].Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Pathology provides clarity in the next-generation sequencing era.Congenital titinopathy: Comprehensive characterisation and pathogenic insights.
P2860
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P2860
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
@zh-cn
2012年学术文章
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2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
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name
Hereditary myopathy with early ...... th a mutation in A-band titin.
@en
type
label
Hereditary myopathy with early ...... th a mutation in A-band titin.
@en
prefLabel
Hereditary myopathy with early ...... th a mutation in A-band titin.
@en
P2093
P2860
P356
P1433
P1476
Hereditary myopathy with early ...... th a mutation in A-band titin.
@en
P2093
Anders Oldfors
Atle Melberg
Bjarne Udd
Björn Brådvik
Carola Hedberg
Christopher Lindberg
Homa Tajsharghi
Monica Ohlsson
Olof Danielsson
P2860
P304
P356
10.1093/BRAIN/AWS103
P407
P577
2012-05-09T00:00:00Z