Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. (Q42113919)

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22 March 2020

title

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome (English)

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22 March 2020

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3

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Sandra T Cooper

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Kathryn N North

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Manoj Menezes

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ORCID Public Data File 2021

Nigel F Clarke

14

object named as

Nigel F Clarke

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Erik-Jan Kamsteeg

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author name string

Gina L O'Grady

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Corien Verschuuren

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Richard Webster

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Johanna M Fock

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Natalie Pride

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Heather A Best

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Tatiana Benavides Damm

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Christian Turner

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Monkol Lek

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Andrew G Engel

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Daniel G MacArthur

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language of work or name

English

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publication date

2 September 2016

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22 March 2020

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22 March 2020

volume

87

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issue

14

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22 March 2020

page(s)

1442-1448

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Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

22 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Reduced expression of the vesicular acetylcholine transporter and neurotransmitter content affects synaptic vesicle distribution and shape in mouse neuromuscular junction

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Update in electromyography

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

SLC18: Vesicular neurotransmitter transporters for monoamines and acetylcholine

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Synaptic basal lamina-associated congenital myasthenic syndromes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Evaluation of neuromuscular junction disorders in the electromyography laboratory

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Dysautonomia due to reduced cholinergic neurotransmission causes cardiac remodeling and heart failure

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

The vesicular acetylcholine transporter is required for neuromuscular development and function

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

The vesicular amine transporter family (SLC18): amine/proton antiporters required for vesicular accumulation and regulated exocytotic secretion of monoamines and acetylcholine

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Mice deficient for the vesicular acetylcholine transporter are myasthenic and have deficits in object and social recognition

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Choline transporter 1 maintains cholinergic function in choline acetyltransferase haploinsufficiency.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5075972

Congenital myasthenic syndromes

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27590285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000003179

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22 March 2020

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22 March 2020

PubMed publication ID

27590285

1 reference