Congenital myasthenic syndrome associated with episodic apnea and sudden infant death (Q44063736)

29 November 2017

title

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death (English)

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congenital myasthenic syndrome

29 November 2017

main subject

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7

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29 November 2017

Byring RF

1

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29 November 2017

Pihko H

2

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29 November 2017

Tsujino A

3

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29 November 2017

Shen XM

4

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29 November 2017

Gustafsson B

5

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29 November 2017

Hackman P

6

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29 November 2017

Engel AG

8

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29 November 2017

Udd B

9

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29 November 2017

language of work or name

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1 August 2002

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29 November 2017

published in

Neuromuscular Disorders

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29 November 2017

volume

12

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29 November 2017

issue

6

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29 November 2017

page(s)

548-553

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The epidemiology of sudden infant death syndrome in Finland in 1969-1980.

29 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Changes in the epidemiological pattern of sudden infant death syndrome in southeast Norway, 1984-1998: implications for future prevention and research

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Inherited metabolic diseases in the sudden infant death syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

A molecular link between the sudden infant death syndrome and the long-QT syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Familial infantile myasthenia gravis: a preventable cause of sudden death

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Familial infantile myasthenia gravis: a cause of sudden death in young children

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Congenital myasthenic syndrome attributed to an abnormal interaction of acetylcholine with its receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Synaptic vesicle abnormality in familial infantile myasthenia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Congenital Lambert-Eaton myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Identification and characterization of the high-affinity choline transporter

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Molecular cloning of a human, hemicholinium-3-sensitive choline transporter

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

Vesicular neurotransmitter transport and the presynaptic regulation of quantal size

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900336-4

7 January 2021

10.1016/S0960-8966(01)00336-4

Identifiers

DOI

1 reference

release_ukw4i3qjlngpjpui7fxbzds5py

29 November 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/ukw4i3qjlngpjpui7fxbzds5py

24 November 2022

mapped directly with Wikidata item

1 reference