共 50 条
- [1] Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy[J]. MOLECULAR PHARMACOLOGY, 2017, 91 (04) : 317 - U88Chen, WenjuanTankovic, AnelBurger, Pieter B.Kusumoto, HirofumiTraynelis, Stephen F.Yuan, Hongjie
- [2] A recurrent, de novo nonsense mutation in the GRIN2B gene, comparison of the clinical phenotypes[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 336 - 336Hoffer, M. J. V.Nibbeling, E. A. R.Koopmann, T. T.Bollen, S.Laurense-Bik, M. E. Y.van Minderhout, I. J. H.Knijnenburg, J.Lamziera, N.Verschuren, M.Fokkema, I. F. A.van Haeringen, A.Potjer, T. P.Ruivenkamp, C. A. L.den Hollander, N. S.
- [3] NOVEL PHENOTYPIC- AND FUNCTIONAL ASPECTS OF HETEROZYGOUS DE NOVO MUTATIONS IN GRIN2B[J]. EPILEPSIA, 2016, 57 : 120 - 121Platzer, K.Yuan, H.Traynelis, S.Lemke, J.
- [4] Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability[J]. NEUROSCIENCE, 2023, 526 : 107 - 120Wang, XiaonaMei, DaoqiGou, LingshanZhao, ShuaiGao, ChaoGuo, JishengLuo, ShuyingGuo, BinYang, ZhigangWang, QiTan, TaoZhang, Yaodong
- [5] Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy[J]. NATURE COMMUNICATIONS, 2014, 5Yuan, HongjieHansen, Kasper B.Zhang, JingPierson, Tyler MarkMarkello, Thomas C.Fajardo, Karin V. FuentesHolloman, Conisha M.Golas, GretchenAdams, David R.Boerkoel, Cornelius F.Gahl, William A.Traynelis, Stephen F.
- [6] Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy[J]. Nature Communications, 5Hongjie YuanKasper B. HansenJing ZhangTyler Mark PiersonThomas C. MarkelloKarin V. Fuentes FajardoConisha M. HollomanGretchen GolasDavid R. AdamsCornelius F. BoerkoelWilliam A. GahlStephen F. Traynelis
- [7] Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene[J]. Behavioral and Brain Functions, 9Inga FreunschtBernt PoppRainer BlankSabine EndeleUte MoogHolger PetriEva-Christina ProttAndre ReisJochen RüboBernhard ZabelMartin ZenkerJohannes HebebrandDagmar Wieczorek
- [8] A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly[J]. Human Genome Variation, 3 (1)Morisada N.Ioroi T.Taniguchi-Ikeda M.Ye M.J.Okamoto N.Yamamoto T.Iijima K.
- [9] Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene[J]. BEHAVIORAL AND BRAIN FUNCTIONS, 2013, 9Freunscht, IngaPopp, BerntBlank, RainerEndele, SabineMoog, UtePetri, HolgerPrott, Eva-ChristinaReis, AndreRuebo, JochenZabel, BernhardZenker, MartinHebebrand, JohannesWieczorek, Dagmar
- [10] Absence of de novo point mutations in exons of GRIN2B in a large schizophrenia trio sample[J]. SCHIZOPHRENIA RESEARCH, 2012, 141 (2-3) : 274 - 276Williams, Hywel J.Georgieva, LyudmilaDwyer, SarahKirov, GeorgeOwen, Michael J.O'Donovan, Michael C.