Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2009 1
2010 1
2011 2
2012 3
2013 5
2014 5
2015 6
2016 5
2017 4
2018 9
2019 19
2020 9
2021 6
Text availability
Article attribute
Article type
Publication date

Search Results

62 results
Results by year
Filters applied: . Clear all
Page 1
Autism spectrum disorder: neuropathology and animal models.
Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD, Hof PR. Varghese M, et al. Acta Neuropathol. 2017 Oct;134(4):537-566. doi: 10.1007/s00401-017-1736-4. Epub 2017 Jun 5. Acta Neuropathol. 2017. PMID: 28584888 Free PMC article. Review.
Autism spectrum disorder (ASD) has a major impact on the development and social integration of affected individuals and is the most heritable of psychiatric disorders. ...Genetically modified models include those based on well-studied monogenic ASD genes (NLGN3, NLG
Autism spectrum disorder (ASD) has a major impact on the development and social integration of affected individuals and is the
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. ...Other common features included behavioral problems (73%); high pain threshold (72%); eating problems, including oral aversion (68%); hypoton …
We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. ... …
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. Berryer MH, et al. Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248. Epub 2012 Dec 12. Hum Mutat. 2013. PMID: 23161826
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). ...These experiments suggest that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 r …
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). .. …
Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice.
Nakajima R, Takao K, Hattori S, Shoji H, Komiyama NH, Grant SGN, Miyakawa T. Nakajima R, et al. Neuropsychopharmacol Rep. 2019 Sep;39(3):223-237. doi: 10.1002/npr2.12073. Epub 2019 Jul 19. Neuropsychopharmacol Rep. 2019. PMID: 31323176 Free PMC article.
SYNGAP1 mutations have been found in human patients with intellectual disability (ID) and autism spectrum disorder (ASD). ...SYNGAP1-related ID is estimated to account for at least 1% of ID cases. ...
SYNGAP1 mutations have been found in human patients with intellectual disability (ID) and autism spectrum disorder (ASD
SYNGAP1-Related Intellectual Disability.
Holder JL Jr, Hamdan FF, Michaud JL. Holder JL Jr, et al. 2019 Feb 21. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2019 Feb 21. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 30789692 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) …
CLINICAL CHARACTERISTICS: SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or …
Dysfunction of the corticostriatal pathway in autism spectrum disorders.
Li W, Pozzo-Miller L. Li W, et al. J Neurosci Res. 2020 Nov;98(11):2130-2147. doi: 10.1002/jnr.24560. Epub 2019 Nov 22. J Neurosci Res. 2020. PMID: 31758607 Free PMC article. Review.
In this review, we first describe axonal growth and synaptogenesis in the corticostriatal pathway during development, and then summarize the current understanding of the molecular bases of synaptic transmission and plasticity at mature corticostriatal synapses. Genes associated w …
In this review, we first describe axonal growth and synaptogenesis in the corticostriatal pathway during development, and then summarize the …
SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.
Michaelson SD, Ozkan ED, Aceti M, Maity S, Llamosas N, Weldon M, Mizrachi E, Vaissiere T, Gaffield MA, Christie JM, Holder JL Jr, Miller CA, Rumbaugh G. Michaelson SD, et al. Nat Neurosci. 2018 Dec;21(12):1-13. doi: 10.1038/s41593-018-0268-0. Epub 2018 Nov 21. Nat Neurosci. 2018. PMID: 30455457 Free PMC article.
However, the biological mechanisms that underlie impaired sensory processing associated with neurodevelopmental disorders are generally understudied and poorly understood. We found that SYNGAP1 haploinsufficiency in humans, which causes a sporadic neurodevelopmental dis
However, the biological mechanisms that underlie impaired sensory processing associated with neurodevelopmental disorders are generally unde …
SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons.
Llamosas N, Arora V, Vij R, Kilinc M, Bijoch L, Rojas C, Reich A, Sridharan B, Willems E, Piper DR, Scampavia L, Spicer TP, Miller CA, Holder JL, Rumbaugh G. Llamosas N, et al. J Neurosci. 2020 Oct 7;40(41):7980-7994. doi: 10.1523/JNEUROSCI.1367-20.2020. Epub 2020 Sep 4. J Neurosci. 2020. PMID: 32887745 Free PMC article.
SYNGAP1 is a major genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. ...Alterations to this fundamental neurodevelopmental process may contribute to the etiology of SYNGAP1-related disorders.SIG
SYNGAP1 is a major genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephal
SYNGAP1: Mind the Gap.
Jeyabalan N, Clement JP. Jeyabalan N, et al. Front Cell Neurosci. 2016 Feb 15;10:32. doi: 10.3389/fncel.2016.00032. eCollection 2016. Front Cell Neurosci. 2016. PMID: 26912996 Free PMC article. Review.
Investigation of the underlying mechanisms using gain or loss of function approaches has revealed alterations in dendritic spine structure, function, and plasticity, consequently modulating the neuronal circuit formation and thereby raising the possibility of neurodevelopmental d …
Investigation of the underlying mechanisms using gain or loss of function approaches has revealed alterations in dendritic spine structure, …
Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.
Kilinc M, Creson T, Rojas C, Aceti M, Ellegood J, Vaissiere T, Lerch JP, Rumbaugh G. Kilinc M, et al. Mol Cell Neurosci. 2018 Sep;91:140-150. doi: 10.1016/j.mcn.2018.03.008. Epub 2018 Mar 24. Mol Cell Neurosci. 2018. PMID: 29580901 Free PMC article. Review.
SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum disorder and schizophrenia. ...Two additional domains are defined by integrating the current literature with new data indicating that S
SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum di
62 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page