Neuromotor synapses in Escobar syndrome.

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description

2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

@wuu

2013年学术文章

@zh

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

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name

Neuromotor synapses in Escobar syndrome.

@en

Neuromotor synapses in Escobar syndrome.

@nl

type

Item

label

Neuromotor synapses in Escobar syndrome.

@en

Neuromotor synapses in Escobar syndrome.

@nl

prefLabel

Neuromotor synapses in Escobar syndrome.

@en

Neuromotor synapses in Escobar syndrome.

@nl

P1476

Neuromotor synapses in Escobar syndrome

@en

P2093

Karen W Gripp

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Karyn G Robinson

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Matthew J Viereck

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Megan V Margiotta

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Omar A Abdul-Rahman

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P2860

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning.

Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors.

Disruption of basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.

Postsynaptic development of the neuromuscular junction in mice lacking the gamma-subunit of muscle nicotinic acetylcholine receptor.

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3042-3048

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scholarly article

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10.1002/AJMG.A.36154

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English

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161A

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Robert E Akins

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2013-08-16T00:00:00Z

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24038971

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5600816

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