The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
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Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequencemRNA expression of DOK1-6 in human breast cancerThe downstream of tyrosine kinase 7 is reduced in lung cancer and is associated with poor survival of patients with lung canceriFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.Synaptic dysfunction in congenital myasthenic syndromes.Inherited disorders of the neuromuscular junction: an update.Postnatal knockdown of dok-7 gene expression in mice causes structural defects in neuromuscular synapses and myasthenic pathology.Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectClinical features of congenital myasthenic syndrome due to mutations in DPAGT1.Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.The carboxyl-terminal region of Dok-7 plays a key, but not essential, role in activation of muscle-specific receptor kinase MuSK and neuromuscular synapse formation.KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860
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P2860
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
The spectrum of mutations that ...... ongenital myasthenic syndrome.
@en
The spectrum of mutations that ...... ongenital myasthenic syndrome.
@nl
type
label
The spectrum of mutations that ...... ongenital myasthenic syndrome.
@en
The spectrum of mutations that ...... ongenital myasthenic syndrome.
@nl
prefLabel
The spectrum of mutations that ...... ongenital myasthenic syndrome.
@en
The spectrum of mutations that ...... ongenital myasthenic syndrome.
@nl
P2093
P2860
P356
P1476
The spectrum of mutations that ...... ongenital myasthenic syndrome.
@en
P2093
David Beeson
Judith Cossins
Katsiaryna Belaya
Michael Oldridge
Stephanie Robb
Susan Maxwell
Tracy Lester
Wei Wei Liu
P2860
P304
P356
10.1093/HMG/DDS198
P577
2012-06-01T00:00:00Z