GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. - Wikidata - awgldk - TriplyDB

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

http://www.wikidata.org/entity/Q37170162

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Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.Inherited disorders of the neuromuscular junction: an update.Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.Endomicroscopy and electromyography of neuromuscular junctions in situ Clinical and research strategies for limb-girdle congenital myasthenic syndromes.Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.Rules and tools to predict the splicing effects of exonic and intronic mutations.Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.

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GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

http://www.wikidata.org/entity/Q37170162

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

@pt

bilimsel makale

@tr

scientific article published on 21 June 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

@en

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

@nl

type

label

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

@en

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

@nl

prefLabel

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

@en

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

@nl

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GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

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Andrew G Engel

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Duygu Selcen

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Feza Deymeer

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Joan Brengman

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Julie Rowin

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Kinji Ohno

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Richard Finkel

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Xin-Ming Shen

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P2860

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

STIM proteins: dynamic calcium signal transducers

Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy

O-GlcNAc-specific antibody CTD110.6 cross-reacts with N-GlcNAc2-modified proteins induced under glucose deprivation.

A two-way street: reciprocal regulation of metabolism and signalling.

Neurology of inherited glycosylation disorders.

Myasthenic syndrome caused by plectinopathy

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

Current status of the congenital myasthenic syndromes.

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Margherita Milone

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