Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
about
Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.Treatment of muscle weakness in neuromuscular disorders.Use of stimulated electromyography in the analysis of the neuromuscular junction in children.DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.Biological and functional relevance of CASP predictions.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.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860
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P2860
Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
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
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2012年学术文章
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2012年学术文章
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2012年學術文章
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2012年學術文章
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2012年學術文章
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name
Identification of DPAGT1 as a ...... ongenital myasthenic syndrome.
@en
Identification of DPAGT1 as a ...... ongenital myasthenic syndrome.
@nl
type
label
Identification of DPAGT1 as a ...... ongenital myasthenic syndrome.
@en
Identification of DPAGT1 as a ...... ongenital myasthenic syndrome.
@nl
prefLabel
Identification of DPAGT1 as a ...... ongenital myasthenic syndrome.
@en
Identification of DPAGT1 as a ...... ongenital myasthenic syndrome.
@nl
P2093
P2860
P1476
Identification of DPAGT1 as a ...... ongenital myasthenic syndrome.
@en
P2093
David Beeson
Judith Cossins
Katsiaryna Belaya
Sarah Finlayson
Susan Maxwell
Wei Wei Liu
P2860
P356
10.1111/J.1749-6632.2012.06790.X
P577
2012-12-01T00:00:00Z