Mutation update: the spectra of nebulin variants and associated myopathies.
about
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathyVariants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds.Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.Clinical utility gene card for: Nemaline myopathy - update 2015.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthExpanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.A Large Deletion Affecting TPM3, Causing Severe Nemaline MyopathyPrenatal diagnosis of congenital myopathies and muscular dystrophies.Myopathology in congenital myopathies.Obscurin variants and inherited cardiomyopathies.Thin filament length in the cardiac sarcomere varies with sarcomere length but is independent of titin and nebulin.Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy.A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.NEB-related core-rod myopathy with distinct clinical and pathological features.
P2860
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P2860
Mutation update: the spectra of nebulin variants and associated myopathies.
description
2014 nî lūn-bûn
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2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
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2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
@zh-my
2014年学术文章
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2014年學術文章
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name
Mutation update: the spectra of nebulin variants and associated myopathies.
@ast
Mutation update: the spectra of nebulin variants and associated myopathies.
@en
Mutation update: the spectra of nebulin variants and associated myopathies.
@nl
type
label
Mutation update: the spectra of nebulin variants and associated myopathies.
@ast
Mutation update: the spectra of nebulin variants and associated myopathies.
@en
Mutation update: the spectra of nebulin variants and associated myopathies.
@nl
prefLabel
Mutation update: the spectra of nebulin variants and associated myopathies.
@ast
Mutation update: the spectra of nebulin variants and associated myopathies.
@en
Mutation update: the spectra of nebulin variants and associated myopathies.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutation update: the spectra of nebulin variants and associated myopathies.
@en
P2093
Carina Wallgren-Pettersson
Carol Saunders
Jennifer A Frey
Jocelyn Laporte
Johan T den Dunnen
Kati Donner
Kirsi Kiiski
Nigel F Clarke
Norma B Romero
Pauliina Repo
P2860
P304
P356
10.1002/HUMU.22693
P577
2014-12-01T00:00:00Z