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- [21] Identification of an individual with a SYNGAP1 pathogenic mutation in IndiaMolecular Biology Reports, 2020, 47 : 9225 - 9234Vijaya Verma论文数: 0 引用数: 0 h-index: 0机构: Neuroscience Unit,Paediatric Neurology and EpilepsyAmit Mandora论文数: 0 引用数: 0 h-index: 0机构: Neuroscience Unit,Paediatric Neurology and EpilepsyAbhijeet Botre论文数: 0 引用数: 0 h-index: 0机构: Neuroscience Unit,Paediatric Neurology and EpilepsyJames P. Clement论文数: 0 引用数: 0 h-index: 0机构: Neuroscience Unit,Paediatric Neurology and Epilepsy
- [22] Cyfip1 Regulates SynGAP1 at Hippocampal SynapsesFRONTIERS IN SYNAPTIC NEUROSCIENCE, 2021, 12Sahasrabudhe, Abhishek论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USABegum, Fatema论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USAGuevara, Christopher A.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USA Grad Sch Biomed Sci, New York, NY USA Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USAMorrison, Chenel论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USAHsiao, Kuangfu论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USA Rockefeller Univ, 1230 York Ave, New York, NY 10021 USA Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USAKezunovic, Nebojsa论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USABozdagi-Gunal, Ozlem论文数: 0 引用数: 0 h-index: 0机构: Rutgers New Jersey Med Sch, Dept Psychiat, Newark, NJ USA Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USABenson, Deanna L.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USA
- [23] Mutations in SYNGAP1 in Autosomal nonsyndromic Mental RetardationNEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (06): : 599 - 605Hamdan, Fadi F.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaGauthier, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Hosp, Res Ctr, Montreal, PQ, Canada Univ Montreal, Ctr Excellence Neurom, Dept Med, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaSpiegelman, Dan论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Hosp, Res Ctr, Montreal, PQ, Canada Univ Montreal, Ctr Excellence Neurom, Dept Med, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaNoreau, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Hosp, Res Ctr, Montreal, PQ, Canada Univ Montreal, Ctr Excellence Neurom, Dept Med, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaYang, Yan论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Hosp, Res Ctr, Montreal, PQ, Canada Univ Montreal, Ctr Excellence Neurom, Dept Med, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaPellerin, Stephanie论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaDobrzeniecka, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Hosp, Res Ctr, Montreal, PQ, Canada Univ Montreal, Ctr Excellence Neurom, Dept Med, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaCote, Melanie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Hosp, Res Ctr, Montreal, PQ, Canada Univ Montreal, Ctr Excellence Neurom, Dept Med, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaPerreault-Linck, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Rech Fernand Seguin, Hop Riviere Prairies, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaCarmant, Lionel论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaD'Anjou, Guy论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaFombonne, Eric论文数: 0 引用数: 0 h-index: 0机构: Montreal Childrens Hosp, Dept Psychiat, Montreal, PQ H3H 1P3, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaAddington, Anjene M.论文数: 0 引用数: 0 h-index: 0机构: NIMH, Child Psychiat Branch, Bethesda, MD 20892 USA CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaRapoport, Judith L.论文数: 0 引用数: 0 h-index: 0机构: NIMH, Child Psychiat Branch, Bethesda, MD 20892 USA CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaDelisi, Lynn E.论文数: 0 引用数: 0 h-index: 0机构: Nathan S Kline Inst Psychiat Res, Ctr Adv Brain Imaging, Orangeburg, NY 10962 USA CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaKrebs, Marie-Odile论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, Unite 894, Paris, France Hop St Anne, F-75674 Paris, France CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaMouaffak, Faycal论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, Unite 894, Paris, France Hop St Anne, F-75674 Paris, France CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaJoober, Ridha论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Douglas Mental Hlth Univ Inst, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaMottron, Laurent论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Rech Fernand Seguin, Hop Riviere Prairies, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaDrapeau, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Grp Rech Syst Nerveux Cent, Dept Pathol & Cell Biol, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaMarineau, Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Hosp, Res Ctr, Montreal, PQ, Canada Univ Montreal, Ctr Excellence Neurom, Dept Med, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaLafreniere, Ronald G.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Hosp, Res Ctr, Montreal, PQ, Canada Univ Montreal, Ctr Excellence Neurom, Dept Med, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaLacaille, Jean Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Dept Physiol, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaRouleau, Guy A.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurom, Ctr Hosp, Res Ctr, Montreal, PQ, Canada Univ Montreal, Ctr Excellence Neurom, Dept Med, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, CanadaMichaud, Jacques L.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada
- [24] Deep Phenotypic Characterization of Patients with SYNGAP1 MutationsANNALS OF NEUROLOGY, 2018, 84 : S351 - S352Jimenez-Gomezq, A.论文数: 0 引用数: 0 h-index: 0Niu, S.论文数: 0 引用数: 0 h-index: 0Vinson, S.论文数: 0 引用数: 0 h-index: 0Risen, S.论文数: 0 引用数: 0 h-index: 0Holder, J. L.论文数: 0 引用数: 0 h-index: 0
- [25] ELECTROCLINICAL FEATURES OF EPILEPSY ASSOCIATED WITH SYNGAP1 MUTATIONEPILEPSIA, 2016, 57 : 81 - 82Tsirka, V论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, London, England Kings Coll Hosp London, London, EnglandKonstantoulaki, E.论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Kings Coll Hosp London, London, EnglandSparkes, M.论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Kings Coll Hosp London, London, EnglandLascelles, K.论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Kings Coll Hosp London, London, EnglandHughes, E.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, London, England Evelina London Childrens Hosp, London, England Kings Coll Hosp London, London, EnglandGoyal, S.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, London, England Evelina London Childrens Hosp, London, England Kings Coll Hosp London, London, England
- [26] De Novo Autosomal Dominant Mutation in SYNGAP1AUTISM RESEARCH, 2011, 4 (02) : 155 - 156Cook, Edwin H., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Dept Psychiat, Inst Juvenile Res, Chicago, IL 60612 USA Univ Illinois, Dept Psychiat, Inst Juvenile Res, Chicago, IL 60612 USA
- [27] A clinical case of autism in combination with epileptic encephalopathy and mental retardation due to SYNGAP1 mutationJOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455Gamirova, Rimma论文数: 0 引用数: 0 h-index: 0机构: Kazan Fed Univ, Dept Neurol, Course Psychiat, Kazan, Russia Kazan Fed Univ, Dept Neurol, Course Clin Psychol, Kazan, Russia Kazan Fed Univ, Dept Neurol, Course Med Genet, Kazan, Russia Kazan Fed Univ, Dept Neurol, Course Psychiat, Kazan, RussiaGorobets, Elena论文数: 0 引用数: 0 h-index: 0机构: Kazan Fed Univ, Dept Appl & Expt Linguist, Kazan, Russia Kazan Fed Univ, Dept Neurol, Course Psychiat, Kazan, RussiaSafina, Aisylu论文数: 0 引用数: 0 h-index: 0机构: Kazan Fed Univ, Dept Neurol, Course Psychiat, Kazan, Russia Kazan Fed Univ, Dept Neurol, Course Clin Psychol, Kazan, Russia Kazan Fed Univ, Dept Neurol, Course Med Genet, Kazan, Russia Kazan Fed Univ, Dept Neurol, Course Psychiat, Kazan, Russia
- [28] SYNGAP1 mutations: Clinical, genetic, and pathophysiological featuresINTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2019, 78 : 65 - 76Agarwal, Mudit论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, New Delhi, India All India Inst Med Sci, New Delhi, IndiaJohnston, Michael V.论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD USA All India Inst Med Sci, New Delhi, IndiaStafstrom, Carl E.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Div Pediat Neurol, Rubenstein Bldg,Room 2157,200 N Wolfe St, Baltimore, MD 21287 USA All India Inst Med Sci, New Delhi, India
- [29] Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine SynapsesCELL, 2012, 151 (04) : 709 - 723Clement, James P.论文数: 0 引用数: 0 h-index: 0机构: Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USAAceti, Massimiliano论文数: 0 引用数: 0 h-index: 0机构: Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USACreson, Thomas K.论文数: 0 引用数: 0 h-index: 0机构: Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USAOzkan, Emin D.论文数: 0 引用数: 0 h-index: 0机构: Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USAShi, Yulin论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Dept Anat & Neurobiol, Irvine, CA 92697 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USAReish, Nicholas J.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Neurobiol, Birmingham, AL 35294 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USAAlmonte, Antoine G.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Neurobiol, Birmingham, AL 35294 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USAMiller, Brooke H.论文数: 0 引用数: 0 h-index: 0机构: Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USAWiltgen, Brian J.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Psychol, Charlottesville, VA 22904 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USAMiller, Courtney A.论文数: 0 引用数: 0 h-index: 0机构: Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Metab & Aging, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USAXu, Xiangmin论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Dept Anat & Neurobiol, Irvine, CA 92697 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USARumbaugh, Gavin论文数: 0 引用数: 0 h-index: 0机构: Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA
- [30] SYNGAP1 Developmental and Epileptic Encephalopathy: Delineating the Phenotypic SpectrumEPILEPSIA, 2018, 59 : S45 - S45Vlaskamp, D. R. M.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Melbourne, Vic, Australia Univ Med Ctr Groningen, Groningen, Netherlands Austin Hlth, Melbourne, Vic, AustraliaShaw, B. J.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Melbourne, Vic, Australia Austin Hlth, Melbourne, Vic, AustraliaBurgess, R.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Melbourne, Vic, Australia Austin Hlth, Melbourne, Vic, AustraliaMei, D.论文数: 0 引用数: 0 h-index: 0机构: A Meyer Childrens Hosp, Florence, Italy Austin Hlth, Melbourne, Vic, AustraliaMontomoli, M.论文数: 0 引用数: 0 h-index: 0机构: A Meyer Childrens Hosp, Florence, Italy Austin Hlth, Melbourne, Vic, AustraliaXie, H.论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Beijing, Peoples R China Austin Hlth, Melbourne, Vic, AustraliaMeyers, C. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Austin Hlth, Melbourne, Vic, AustraliaMark, B.论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Inst Med Res, Melbourne, Vic, Australia Austin Hlth, Melbourne, Vic, AustraliaWilliams, D.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Melbourne, Vic, AustraliaMaas, S. M.论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Amsterdam, Netherlands Austin Hlth, Melbourne, Vic, AustraliaBrooks, A. S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Austin Hlth, Melbourne, Vic, AustraliaVerheijen-Mancini, G. M. S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Austin Hlth, Melbourne, Vic, Australiade Graaf-Van de Laar, I. M. B. H.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Austin Hlth, Melbourne, Vic, Australiavan Hagen, A. M.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands Austin Hlth, Melbourne, Vic, AustraliaWare, T.论文数: 0 引用数: 0 h-index: 0机构: Launceston Gen Hosp, Launceston, Tas, Australia Austin Hlth, Melbourne, Vic, AustraliaWebster, R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Sydney, NSW, Australia Austin Hlth, Melbourne, Vic, AustraliaMalone, S.论文数: 0 引用数: 0 h-index: 0机构: Lady Cilento Childrens Hosp, Brisbane, Qld, Australia Austin Hlth, Melbourne, Vic, AustraliaBerkovic, S. F.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Melbourne, Vic, Australia Austin Hlth, Melbourne, Vic, AustraliaKalnins, R. M.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Austin Hlth, Melbourne, Vic, Australiavan Ravenswaaij-Arts, C. M. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Groningen, Netherlands Austin Hlth, Melbourne, Vic, AustraliaHildebrand, M. S.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Melbourne, Vic, Australia Austin Hlth, Melbourne, Vic, AustraliaMefford, H. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Austin Hlth, Melbourne, Vic, AustraliaJiang, Y.论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Beijing, Peoples R China Beijing Inst Brain Disorders, Beijing, Peoples R China Austin Hlth, Melbourne, Vic, AustraliaGuerrini, R.论文数: 0 引用数: 0 h-index: 0机构: A Meyer Childrens Hosp, Florence, Italy IRCCS Stella Maris, Pisa, Italy Austin Hlth, Melbourne, Vic, AustraliaScheffer, I. E.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Melbourne, Vic, Australia Royal Childrens Hosp, Melbourne, Vic, Australia Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Austin Hlth, Melbourne, Vic, Australia