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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation
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scholarly article
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title
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation
(English)
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author
Guy A. Rouleau
series ordinal
25
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Sylvia Dobrzeniecka
series ordinal
7
object named as
Sylvia Dobrzeniecka
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Éric Fombonne
object named as
Eric Fombonne
series ordinal
13
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Marie-Odile Krebs
object named as
Marie-Odile Krebs
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17
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Laurent Mottron
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20
object named as
Laurent Mottron
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Dan Spiegelman
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3
object named as
Dan Spiegelman
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Julie Gauthier
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2
object named as
Julie Gauthier
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Jacques L. Michaud
series ordinal
26
object named as
Jacques L Michaud
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Judith L. Rapoport
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15
object named as
Judith L Rapoport
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Jean-Claude Lacaille
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24
object named as
Jean Claude Lacaille
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Pierre Drapeau
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21
object named as
Pierre Drapeau
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Anjene M. Addington
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14
object named as
Anjene M Addington
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Anne Noreau
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4
object named as
Anne Noreau
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Ronald G. Lafrenière
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23
object named as
Ronald G Lafrenière
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Mélanie Côté
series ordinal
8
object named as
Mélanie Côté
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Claude Marineau
series ordinal
22
object named as
Claude Marineau
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author name string
Fadi F Hamdan
series ordinal
1
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Yan Yang
series ordinal
5
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Stéphanie Pellerin
series ordinal
6
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Elizabeth Perreau-Linck
series ordinal
9
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Elizabeth Perreault-Linck
series ordinal
10
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Lionel Carmant
series ordinal
11
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Guy D'Anjou
series ordinal
12
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Lynn E Delisi
series ordinal
16
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Faycal Mouaffak
series ordinal
18
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Ridha Joober
series ordinal
19
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language of work or name
English
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publication date
5 February 2009
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published in
The New England Journal of Medicine
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volume
360
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page(s)
599-605
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issue
6
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cites work
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
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PubMed Central
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A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
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The role of neuronal complexes in human X-linked brain diseases
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7 April 2017
SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons
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PubMed Central
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7 April 2017
The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction
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PubMed Central
reference URL
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7 April 2017
SynGAP regulates spine formation
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7 April 2017
SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation
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The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity
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7 April 2017
SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor
1 reference
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PubMed Central
reference URL
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7 April 2017
Characterization of a novel synGAP isoform, synGAP-beta
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The origins, patterns and implications of human spontaneous mutation
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7 April 2017
SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family
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Modulation of synaptic plasticity by antimanic agents: the role of AMPA glutamate receptor subunit 1 synaptic expression
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The cell biology of synaptic plasticity: AMPA receptor trafficking
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A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
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Genetics of autosomal recessive non-syndromic mental retardation: recent advances.
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PTC124 targets genetic disorders caused by nonsense mutations
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NMDA receptors and schizophrenia.
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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
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Genetics and pathophysiology of mental retardation
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Differential roles of NR2A- and NR2B-containing NMDA receptors in Ras-ERK signaling and AMPA receptor trafficking
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30 May 2018
Topiramate reduces AMPA-induced Ca(2+) transients and inhibits GluR1 subunit phosphorylation in astrocytes from primary cultures
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28 November 2018
X-linked mental retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2925262
retrieved
28 November 2018
Dendritic Spine "Dysgenesis" and Mental Retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2925262
retrieved
28 November 2018
Identifiers
DOI
10.1056/NEJMOA0805392
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1354687
OpenCitations bibliographic resource ID
1354687
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1354687
PMCID
2925262
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1354687
PubMed ID
19196676
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1354687
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