BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

259 related articles for article (PubMed ID: 29644724)

  • 1. A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.
    Fernández-Marmiesse A; Kusumoto H; Rekarte S; Roca I; Zhang J; Myers SJ; Traynelis SF; Couce ML; Gutierrez-Solana L; Yuan H
    Mov Disord; 2018 Jul; 33(6):992-999. PubMed ID: 29644724
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
    Gao K; Tankovic A; Zhang Y; Kusumoto H; Zhang J; Chen W; XiangWei W; Shaulsky GH; Hu C; Traynelis SF; Yuan H; Jiang Y
    PLoS One; 2017; 12(2):e0170818. PubMed ID: 28182669
    [TBL] [Abstract][Full Text] [Related]  

  • 3. GRIN2A mutations in epilepsy-aphasia spectrum disorders.
    Yang X; Qian P; Xu X; Liu X; Wu X; Zhang Y; Yang Z
    Brain Dev; 2018 Mar; 40(3):205-210. PubMed ID: 29056244
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations.
    Serraz B; Grand T; Paoletti P
    Neuropharmacology; 2016 Oct; 109():196-204. PubMed ID: 27288002
    [TBL] [Abstract][Full Text] [Related]  

  • 5. GRIN2A-related disorders: genotype and functional consequence predict phenotype.
    Strehlow V; Heyne HO; Vlaskamp DRM; Marwick KFM; Rudolf G; de Bellescize J; Biskup S; Brilstra EH; Brouwer OF; Callenbach PMC; Hentschel J; Hirsch E; Kind PC; Mignot C; Platzer K; Rump P; Skehel PA; Wyllie DJA; Hardingham GE; van Ravenswaaij-Arts CMA; Lesca G; Lemke JR;
    Brain; 2019 Jan; 142(1):80-92. PubMed ID: 30544257
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional Evaluation of a De Novo
    Chen W; Tankovic A; Burger PB; Kusumoto H; Traynelis SF; Yuan H
    Mol Pharmacol; 2017 Apr; 91(4):317-330. PubMed ID: 28126851
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo GRIN2A variants associated with epilepsy and autism and literature review.
    Mangano GD; Riva A; Fontana A; Salpietro V; Mangano GR; Nobile G; Orsini A; Iacomino M; Battini R; Astrea G; Striano P; Nardello R
    Epilepsy Behav; 2022 Apr; 129():108604. PubMed ID: 35217385
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional assessment of triheteromeric NMDA receptors containing a human variant associated with epilepsy.
    Marwick KFM; Hansen KB; Skehel PA; Hardingham GE; Wyllie DJA
    J Physiol; 2019 Mar; 597(6):1691-1704. PubMed ID: 30604514
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
    Venkateswaran S; Myers KA; Smith AC; Beaulieu CL; Schwartzentruber JA; ; Majewski J; Bulman D; Boycott KM; Dyment DA
    Epilepsia; 2014 Jul; 55(7):e75-9. PubMed ID: 24903190
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
    Yuan H; Hansen KB; Zhang J; Pierson TM; Markello TC; Fajardo KV; Holloman CM; Golas G; Adams DR; Boerkoel CF; Gahl WA; Traynelis SF
    Nat Commun; 2014; 5():3251. PubMed ID: 24504326
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
    Fry AE; Fawcett KA; Zelnik N; Yuan H; Thompson BAN; Shemer-Meiri L; Cushion TD; Mugalaasi H; Sims D; Stoodley N; Chung SK; Rees MI; Patel CV; Brueton LA; Layet V; Giuliano F; Kerr MP; Banne E; Meiner V; Lerman-Sagie T; Helbig KL; Kofman LH; Knight KM; Chen W; Kannan V; Hu C; Kusumoto H; Zhang J; Swanger SA; Shaulsky GH; Mirzaa GM; Muir AM; Mefford HC; Dobyns WB; Mackenzie AB; Mullins JGL; Lemke JR; Bahi-Buisson N; Traynelis SF; Iago HF; Pilz DT
    Brain; 2018 Mar; 141(3):698-712. PubMed ID: 29365063
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice.
    Amador A; Bostick CD; Olson H; Peters J; Camp CR; Krizay D; Chen W; Han W; Tang W; Kanber A; Kim S; Teoh J; Sah M; Petri S; Paek H; Kim A; Lutz CM; Yang M; Myers SJ; Bhattacharya S; Yuan H; Goldstein DB; Poduri A; Boland MJ; Traynelis SF; Frankel WN
    Brain; 2020 Jul; 143(7):2039-2057. PubMed ID: 32577763
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.
    Shepard N; Baez-Nieto D; Iqbal S; Kurganov E; Budnik N; Campbell AJ; Pan JQ; Sheng M; Farsi Z
    Sci Rep; 2024 Feb; 14(1):2798. PubMed ID: 38307912
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language-related NMDA receptor subunit gene Grin2a.
    Salmi M; Bolbos R; Bauer S; Minlebaev M; Burnashev N; Szepetowski P
    Epilepsia; 2018 Oct; 59(10):1919-1930. PubMed ID: 30146685
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.
    Xu XX; Liu XR; Fan CY; Lai JX; Shi YW; Yang W; Su T; Xu JY; Luo JH; Liao WP
    Neurosci Bull; 2018 Apr; 34(2):237-246. PubMed ID: 28936771
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The human NMDA receptor GluN2A
    Marwick KFM; Skehel PA; Hardingham GE; Wyllie DJA
    Pharmacol Res Perspect; 2019 Aug; 7(4):e00495. PubMed ID: 31249692
    [No Abstract]   [Full Text] [Related]  

  • 17. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
    Ohba C; Shiina M; Tohyama J; Haginoya K; Lerman-Sagie T; Okamoto N; Blumkin L; Lev D; Mukaida S; Nozaki F; Uematsu M; Onuma A; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Tanaka F; Kato M; Ogata K; Saitsu H; Matsumoto N
    Epilepsia; 2015 Jun; 56(6):841-8. PubMed ID: 25864721
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
    Endele S; Rosenberger G; Geider K; Popp B; Tamer C; Stefanova I; Milh M; Kortüm F; Fritsch A; Pientka FK; Hellenbroich Y; Kalscheuer VM; Kohlhase J; Moog U; Rappold G; Rauch A; Ropers HH; von Spiczak S; Tönnies H; Villeneuve N; Villard L; Zabel B; Zenker M; Laube B; Reis A; Wieczorek D; Van Maldergem L; Kutsche K
    Nat Genet; 2010 Nov; 42(11):1021-6. PubMed ID: 20890276
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.
    Gjerulfsen CE; Krey I; Klöckner C; Rubboli G; Lemke JR; Møller RS
    Methods Mol Biol; 2024; 2799():1-11. PubMed ID: 38727899
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders].
    Qian P; Yang X; Xu X; Liu X; Zhang Y; Yang Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):314-318. PubMed ID: 29896722
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.