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New horizons for congenital myasthenic syndromesCongenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentThe many faces of plectin and plectinopathies: pathology and mechanismsNeuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.Congenital myasthenic syndromes in 2012.Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunctionCurrent status of the congenital myasthenic syndromes.Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle.Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gatingGFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Mitochondrial dysfunction: a neglected component of skin diseases.One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.Functional consequences and structural interpretation of mutations of human choline acetyltransferase.Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.Is the serum creatine kinase level elevated in congenital myasthenic syndrome?Molecular and clinical relationship between live-attenuated Japanese encephalitis vaccination and childhood onset myasthenia gravis
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Myasthenic syndrome caused by plectinopathy
@ast
Myasthenic syndrome caused by plectinopathy
@en
Myasthenic syndrome caused by plectinopathy
@nl
type
label
Myasthenic syndrome caused by plectinopathy
@ast
Myasthenic syndrome caused by plectinopathy
@en
Myasthenic syndrome caused by plectinopathy
@nl
prefLabel
Myasthenic syndrome caused by plectinopathy
@ast
Myasthenic syndrome caused by plectinopathy
@en
Myasthenic syndrome caused by plectinopathy
@nl
P2093
P2860
P1433
P1476
Myasthenic syndrome caused by plectinopathy
@en
P2093
D E Stickler
L D Hobson-Webb
P2860
P304
P356
10.1212/WNL.0B013E31820882BD
P407
P50
P577
2011-01-01T00:00:00Z