Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.
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Assessment of the functionality and stability of detergent purified nAChR from Torpedo using lipidic matrixes and macroscopic electrophysiology.Clinical utility gene card for: Nemaline myopathy - update 2015.Treatment of muscle weakness in neuromuscular disorders.Myopathology in congenital myopathies.Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.Treating pediatric neuromuscular disorders: The future is now.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.A Rare Case of Severe Congenital RYR1-Associated Myopathy
P2860
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P2860
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.
description
2014 nî lūn-bûn
@nan
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
@zh-sg
2014年學術文章
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2014年學術文章
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2014年學術文章
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name
Congenital myopathies with sec ...... and review of the literature.
@en
type
label
Congenital myopathies with sec ...... and review of the literature.
@en
prefLabel
Congenital myopathies with sec ...... and review of the literature.
@en
P2093
P1476
Congenital myopathies with sec ...... and review of the literature.
@en
P2093
Caroline Sewry
David Beeson
Pedro M Rodríguez Cruz
Robert McWilliam
Sandeep Jayawant
Waney Squier
P304
P356
10.1016/J.NMD.2014.07.005
P577
2014-07-30T00:00:00Z