(Q34873698)

5 August 2017

Intellectual disability without epilepsy associated with STXBP1 disruption (English)

1 reference

disability affecting intellectual abilities

5 August 2017

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

9

Guy A Rouleau

0 references

Sylvia Dobrzeniecka

3

object named as

Sylvia Dobrzeniecka

0 references

Laurent Mottron

5

object named as

Laurent Mottron

1 reference

5 August 2017

2

Julie Gauthier

1 reference

5 August 2017

10

Jacques L Michaud

1 reference

5 August 2017

6

Michel Vanasse

1 reference

5 August 2017

8

Jean Claude Lacaille

1 reference

5 August 2017

Fadi F Hamdan

1

1 reference

PubMed ID

21364700

5 August 2017

Anne Lortie

4

1 reference

PubMed ID

21364700

5 August 2017

Guy D'Anjou

7

1 reference

5 August 2017

2 March 2011

1 reference

European Journal of Human Genetics

5 August 2017

1 reference

5 August 2017

19

1 reference

5 August 2017

5

1 reference

5 August 2017

607-609

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.183

5 August 2017

0 references

cites work

X-linked mental retardation: focus on synaptic function and plasticity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083607

Conformational switch of syntaxin-1 controls synaptic vesicle fusion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083607

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083607

Munc18a controls SNARE assembly through its interaction with the syntaxin N-peptide

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083607

Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083607

Genetics and pathophysiology of mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083607

Defects in synaptic vesicle docking in unc-18 mutants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083607

Three-dimensional structure of the neuronal-Sec1-syntaxin 1a complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083607

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.183

Control of fusion pore dynamics during exocytosis by Munc18

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21364700

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.183

1 reference

5 August 2017

1 reference

5 August 2017

1 reference

PubMed ID

21364700