Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
about
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Inherited disorders of the neuromuscular junction: an update.Clinical features of the myasthenic syndrome arising from mutations in GMPPB.COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature ReviewDPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2Mutations 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.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860
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P2860
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
@en
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
@nl
type
label
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
@en
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
@nl
prefLabel
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
@en
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
@nl
P2093
P2860
P356
P1476
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
@en
P2093
David Beeson
Fiona Norwood
Georgina Burke
Janice L Holton
Judith Cossins
Katsiaryna Belaya
Samuel I Pascual-Pascual
Sarah Finlayson
Timothy J Walls
P2860
P304
P356
10.1136/JNNP-2012-304716
P407
P577
2013-02-27T00:00:00Z