DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
about
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentMutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.Muscle magnetic resonance imaging in congenital myasthenic syndromes.Inherited disorders of the neuromuscular junction: an update.Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.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.Clinical and research strategies for limb-girdle congenital myasthenic syndromes.Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design
P2860
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P2860
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
@ast
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
@en
type
label
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
@ast
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
@en
prefLabel
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
@ast
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
@en
P2093
P2860
P1433
P1476
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
@en
P2093
Andrew G Engel
Anthony A Stans
Duygu Selcen
Eric Wieben
Joan Brengman
Xin-Ming Shen
P2860
P304
P356
10.1212/WNL.0000000000000435
P407
P577
2014-04-23T00:00:00Z