193 related articles for article (PubMed ID: 37533751)
1. An intellectual-disability-associated mutation of the transcriptional regulator
Daniel JA; Elizarova S; Shaib AH; Chouaib AA; Magnussen HM; Wang J; Brose N; Rhee J; Tirard M
Front Mol Neurosci; 2023; 16():1115880. PubMed ID: 37533751
[TBL] [Abstract][Full Text] [Related]
2. A New Case of
Lyu B; Dong Y; Kang J
Front Pediatr; 2021; 9():754261. PubMed ID: 34869110
[No Abstract] [Full Text] [Related]
3. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K; Meng L; Szelinger S; Bearden DR; Stray-Pedersen A; Busk OL; Stong N; Liston E; Cohn RD; Scaglia F; Rosenfeld JA; Tarpinian J; Skraban CM; Deardorff MA; Friedman JN; Akdemir ZC; Walley N; Mikati MA; Kranz PG; Jasien J; McConkie-Rosell A; McDonald M; Wechsler SB; Freemark M; Kansagra S; Freedman S; Bali D; Millan F; Bale S; Nelson SF; Lee H; Dorrani N; ; ; Goldstein DB; Xiao R; Yang Y; Posey JE; Martinez-Agosto JA; Lupski JR; Wangler MF; Shashi V
Am J Hum Genet; 2017 Feb; 100(2):343-351. PubMed ID: 28132692
[TBL] [Abstract][Full Text] [Related]
4. Nacc1 Mutation in Mice Models Rare Neurodevelopmental Disorder with Underlying Synaptic Dysfunction.
Deehan MA; Kothuis JM; Sapp E; Chase K; Ke Y; Seeley C; Iuliano M; Kim E; Kennington L; Miller R; Boudi A; Shing K; Li X; Pfister E; Anaclet C; Brodsky M; Kegel-Gleason K; Aronin N; DiFiglia M
J Neurosci; 2024 Apr; 44(14):. PubMed ID: 38388424
[TBL] [Abstract][Full Text] [Related]
5. Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Komulainen-Ebrahim J; Kangas SM; López-Martín E; Feyma T; Scaglia F; Martínez-Delgado B; Kuismin O; Suo-Palosaari M; Carr L; Hinttala R; Kurian MA; Uusimaa J
Mov Disord Clin Pract; 2024 Jun; 11(6):708-715. PubMed ID: 38698576
[TBL] [Abstract][Full Text] [Related]
6. Nucleus accumbens associated 1 is recruited within the promyelocytic leukemia nuclear body through SUMO modification.
Tatemichi Y; Shibazaki M; Yasuhira S; Kasai S; Tada H; Oikawa H; Suzuki Y; Takikawa Y; Masuda T; Maesawa C
Cancer Sci; 2015 Jul; 106(7):848-56. PubMed ID: 25891951
[TBL] [Abstract][Full Text] [Related]
7. Mouse models of
Araki Y; Gerber EE; Rajkovich KE; Hong I; Johnson RC; Lee HK; Kirkwood A; Huganir RL
bioRxiv; 2023 May; ():. PubMed ID: 37293116
[TBL] [Abstract][Full Text] [Related]
8. Loss of NAC1 expression is associated with defective bony patterning in the murine vertebral axis.
Yap KL; Sysa-Shah P; Bolon B; Wu RC; Gao M; Herlinger AL; Wang F; Faiola F; Huso D; Gabrielson K; Wang TL; Wang J; Shih IeM
PLoS One; 2013; 8(7):e69099. PubMed ID: 23922682
[TBL] [Abstract][Full Text] [Related]
9. A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity.
Gao AYL; Ilie A; Chang PKY; Orlowski J; McKinney RA
Neurobiol Dis; 2019 Oct; 130():104490. PubMed ID: 31175985
[TBL] [Abstract][Full Text] [Related]
10. SYNGAP1 mutations: Clinical, genetic, and pathophysiological features.
Agarwal M; Johnston MV; Stafstrom CE
Int J Dev Neurosci; 2019 Nov; 78():65-76. PubMed ID: 31454529
[TBL] [Abstract][Full Text] [Related]
11. 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
Hum Mutat; 2013 Feb; 34(2):385-94. PubMed ID: 23161826
[TBL] [Abstract][Full Text] [Related]
12. Autism Spectrum Disorder/Intellectual Disability-Associated Mutations in Trio Disrupt Neuroligin 1-Mediated Synaptogenesis.
Tian C; Paskus JD; Fingleton E; Roche KW; Herring BE
J Neurosci; 2021 Sep; 41(37):7768-7778. PubMed ID: 34353896
[TBL] [Abstract][Full Text] [Related]
13. Hyperexcitability and translational phenotypes in a preclinical model of
Silverman JL; Fenton T; Haouchine O; Hallam E; Smith E; Jackson K; Rahbarian D; Canales C; Adhikari A; Nord A; Ben-Shalom R
Res Sq; 2023 Sep; ():. PubMed ID: 37790402
[No Abstract] [Full Text] [Related]
14. Hyperexcitability and translational phenotypes in a preclinical model of
Fenton TA; Haouchine OY; Hallam EL; Smith EM; Jackson KC; Rahbarian D; Canales C; Adhikari A; Nord AS; Ben-Shalom R; Silverman JL
bioRxiv; 2023 Jul; ():. PubMed ID: 37546838
[No Abstract] [Full Text] [Related]
15. Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by
Wang Y; Lv Y; Li Z; Gao M; Yang X; Li Y; Shi J; Gao Z; Liu Y; Gai Z
Front Genet; 2022; 13():957915. PubMed ID: 36583017
[No Abstract] [Full Text] [Related]
16. Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
Prchalova D; Havlovicova M; Sterbova K; Stranecky V; Hancarova M; Sedlacek Z
BMC Med Genet; 2017 Jun; 18(1):62. PubMed ID: 28576131
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 26110312
[TBL] [Abstract][Full Text] [Related]
18. Identification of an individual with a SYGNAP1 pathogenic mutation in India.
Verma V; Mandora A; Botre A; Clement JP
Mol Biol Rep; 2020 Nov; 47(11):9225-9234. PubMed ID: 33090308
[TBL] [Abstract][Full Text] [Related]
19. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Parker MJ; Fryer AE; Shears DJ; Lachlan KL; McKee SA; Magee AC; Mohammed S; Vasudevan PC; Park SM; Benoit V; Lederer D; Maystadt I; Study D; FitzPatrick DR
Am J Med Genet A; 2015 Oct; 167A(10):2231-7. PubMed ID: 26079862
[TBL] [Abstract][Full Text] [Related]
20. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A; Wieczorek D; Graf E; Wieland T; Endele S; Schwarzmayr T; Albrecht B; Bartholdi D; Beygo J; Di Donato N; Dufke A; Cremer K; Hempel M; Horn D; Hoyer J; Joset P; Röpke A; Moog U; Riess A; Thiel CT; Tzschach A; Wiesener A; Wohlleber E; Zweier C; Ekici AB; Zink AM; Rump A; Meisinger C; Grallert H; Sticht H; Schenck A; Engels H; Rappold G; Schröck E; Wieacker P; Riess O; Meitinger T; Reis A; Strom TM
Lancet; 2012 Nov; 380(9854):1674-82. PubMed ID: 23020937
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
