Synaptic basal lamina-associated congenital myasthenic syndromes.

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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artikel ilmiah

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Synaptic basal lamina-associated congenital myasthenic syndromes.

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Synaptic basal lamina-associated congenital myasthenic syndromes.

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prefLabel

Synaptic basal lamina-associated congenital myasthenic syndromes.

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P1476

Synaptic basal lamina-associated congenital myasthenic syndromes.

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P2093

Juan Arredondo

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Michael J Ferns

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Ricardo A Maselli

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Robert L Wollmann

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P2860

Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation

Form and function: the laminin family of heterotrimers

Molecular heterogeneity of basal laminae: isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

Developmental and pathogenic mechanisms of basement membrane assembly

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

P304

36-48

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P31

scholarly article

P356

10.1111/J.1749-6632.2012.06807.X

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P407

English

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1275

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P577

2012-12-01T00:00:00Z

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P698

23278576

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P921

birth defect