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Best matches for syngap1 autism:

SYNGAP1: Mind the Gap. Jeyabalan N et al. Front Cell Neurosci. (2016)

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Berryer MH et al. Hum Mutat. (2013)

Autism spectrum disorder: neuropathology and animal models. Varghese M et al. Acta Neuropathol. (2017)

Search results

Items: 1 to 20 of 32

1.

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.

Neurology. 2018 Dec 12. pii: 10.1212/WNL.0000000000006729. doi: 10.1212/WNL.0000000000006729. [Epub ahead of print]

PMID:
30541864
2.

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.

Nat Neurosci. 2018 Dec;21(12):1-13. doi: 10.1038/s41593-018-0268-0. Epub 2018 Nov 21.

PMID:
30455457
3.

Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.

Kilinc M, Creson T, Rojas C, Aceti M, Ellegood J, Vaissiere T, Lerch JP, Rumbaugh G.

Mol Cell Neurosci. 2018 Sep;91:140-150. doi: 10.1016/j.mcn.2018.03.008. Epub 2018 Mar 24. Review.

PMID:
29580901
4.

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.

Weldon M, Kilinc M, Lloyd Holder J Jr, Rumbaugh G.

J Neurodev Disord. 2018 Feb 5;10(1):6. doi: 10.1186/s11689-018-9225-1. Review.

5.

Ulk4 regulates GABAergic signaling and anxiety-related behavior.

Liu M, Fitzgibbon M, Wang Y, Reilly J, Qian X, O'Brien T, Clapcote S, Shen S, Roche M.

Transl Psychiatry. 2018 Feb 2;8(1):43. doi: 10.1038/s41398-017-0091-5.

PMID:
29391390
Free PMC Article
6.

Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

Kimura Y, Akahira-Azuma M, Harada N, Enomoto Y, Tsurusaki Y, Kurosawa K.

Congenit Anom (Kyoto). 2018 Nov;58(6):188-190. doi: 10.1111/cga.12273. Epub 2018 Feb 13.

PMID:
29381230
7.

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, Rivière JB, Fombonne E, O'Roak BJ.

Am J Hum Genet. 2017 Sep 7;101(3):369-390. doi: 10.1016/j.ajhg.2017.07.016. Epub 2017 Aug 31.

8.

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.

Acta Neuropathol. 2017 Oct;134(4):537-566. doi: 10.1007/s00401-017-1736-4. Epub 2017 Jun 5. Review.

9.

DE NOVO MUTATIONS IN AUTISM IMPLICATE THE SYNAPTIC ELIMINATION NETWORK.

Ram Venkataraman G, O'Connell C, Egawa F, Kashef-Haghighi D, Wall DP.

Pac Symp Biocomput. 2017;22:521-532. doi: 10.1142/9789813207813_0048.

10.

Long-term potentiation modulates synaptic phosphorylation networks and reshapes the structure of the postsynaptic interactome.

Li J, Wilkinson B, Clementel VA, Hou J, O'Dell TJ, Coba MP.

Sci Signal. 2016 Aug 9;9(440):rs8. doi: 10.1126/scisignal.aaf6716.

PMID:
27507650
11.

Receptor Tyrosine Kinase MET Interactome and Neurodevelopmental Disorder Partners at the Developing Synapse.

Xie Z, Li J, Baker J, Eagleson KL, Coba MP, Levitt P.

Biol Psychiatry. 2016 Dec 15;80(12):933-942. doi: 10.1016/j.biopsych.2016.02.022. Epub 2016 Feb 26.

12.

SYNGAP1: Mind the Gap.

Jeyabalan N, Clement JP.

Front Cell Neurosci. 2016 Feb 15;10:32. doi: 10.3389/fncel.2016.00032. eCollection 2016. Review.

13.

Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice.

Barnes SA, Wijetunge LS, Jackson AD, Katsanevaki D, Osterweil EK, Komiyama NH, Grant SG, Bear MF, Nägerl UV, Kind PC, Wyllie DJ.

J Neurosci. 2015 Nov 11;35(45):15073-81. doi: 10.1523/JNEUROSCI.1087-15.2015.

14.

Prioritizing the development of mouse models for childhood brain disorders.

Ogden KK, Ozkan ED, Rumbaugh G.

Neuropharmacology. 2016 Jan;100:2-16. doi: 10.1016/j.neuropharm.2015.07.029. Epub 2015 Jul 29. Review.

15.

SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.

von Stülpnagel C, Funke C, Haberl C, Hörtnagel K, Jüngling J, Weber YG, Staudt M, Kluger G.

Neuropediatrics. 2015 Aug;46(4):287-91. doi: 10.1055/s-0035-1554098. Epub 2015 Jun 25.

PMID:
26110312
16.

Dietary glycemic index modulates the behavioral and biochemical abnormalities associated with autism spectrum disorder.

Currais A, Farrokhi C, Dargusch R, Goujon-Svrzic M, Maher P.

Mol Psychiatry. 2016 Mar;21(3):426-36. doi: 10.1038/mp.2015.64. Epub 2015 Jun 9.

PMID:
26055422
17.

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

Kozol RA, Cukier HN, Zou B, Mayo V, De Rubeis S, Cai G, Griswold AJ, Whitehead PL, Haines JL, Gilbert JR, Cuccaro ML, Martin ER, Baker JD, Buxbaum JD, Pericak-Vance MA, Dallman JE.

Hum Mol Genet. 2015 Jul 15;24(14):4006-23. doi: 10.1093/hmg/ddv138. Epub 2015 Apr 16.

18.

Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly.

Aceti M, Creson TK, Vaissiere T, Rojas C, Huang WC, Wang YX, Petralia RS, Page DT, Miller CA, Rumbaugh G.

Biol Psychiatry. 2015 May 1;77(9):805-15. doi: 10.1016/j.biopsych.2014.08.001. Epub 2014 Aug 13.

19.

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE.

Nat Commun. 2014 Nov 24;5:5595. doi: 10.1038/ncomms6595.

20.

Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders.

Santini E, Klann E.

Sci Signal. 2014 Oct 28;7(349):re10. doi: 10.1126/scisignal.2005832. Review.

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