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Volumn 26, Issue 2, 2010, Pages 133-135

De novo mutations in syngapl associated with non-syndromic mental retardation;Mutations de novo de SYNGAP1 associées à la déficience intellectuelle non syndromique

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EID: 77749324246     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/2010262133     Document Type: Article
Times cited : (4)

References (9)
  • 1
    • 0030862260 scopus 로고    scopus 로고
    • Evaluation of mental retardation: Recommendations of a Consensus Conference: American College of Medical Genetics
    • Curry CJ, Stevenson RE, Aughton D, et al. Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet 1997;72:468-77.
    • (1997) Am J Med Genet , vol.72 , pp. 468-477
    • Curry, C.J.1    Stevenson, R.E.2    Aughton, D.3
  • 2
    • 0016251748 scopus 로고
    • Dendritic spine dysgenesis and mental retardation 1
    • Purpura DP. Dendritic spine « dysgenesis» and mental retardation 1. Science 1974;186:1126-8.
    • (1974) Science , vol.186 , pp. 1126-1128
    • Purpura, D.P.1
  • 3
    • 0037111835 scopus 로고    scopus 로고
    • SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor
    • Komiyama NH, Watabe AM, Carlisle HJ, et al. SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor. J Neurosci 2002;22:9721-32.
    • (2002) J Neurosci , vol.22 , pp. 9721-9732
    • Komiyama, N.H.1    Watabe, A.M.2    Carlisle, H.J.3
  • 4
    • 33645217296 scopus 로고    scopus 로고
    • SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons
    • Rumbaugh G, Adams JP, Kim JH, Huganir RL. SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons. Proc Natl Acad Sci USA 2006;103:4344-51.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 4344-4351
    • Rumbaugh, G.1    Adams, J.P.2    Kim, J.H.3    Huganir, R.L.4
  • 5
    • 58149379613 scopus 로고    scopus 로고
    • SynGAP regulates steady-state and activitydependent phosphorylation of cofilin
    • Carlisle HJ, Manzerra P, Marcora E, Kennedy MB. SynGAP regulates steady-state and activitydependent phosphorylation of cofilin. J Neurosci 2008;28:13673-83.
    • (2008) J Neurosci , vol.28 , pp. 13673-13683
    • Carlisle, H.J.1    Manzerra, P.2    Marcora, E.3    Kennedy, M.B.4
  • 6
    • 67349261457 scopus 로고    scopus 로고
    • Reduced expression of the NMDA receptor-interacting protein SynGAP causes behavioral abnormalities that model symptoms of schizophrenia
    • Guo X, Hamilton PJ, Reish NJ, et al. Reduced expression of the NMDA receptor-interacting protein SynGAP causes behavioral abnormalities that model symptoms of schizophrenia. Neuropsychopharmacology 2009;34:1659-72.
    • (2009) Neuropsychopharmacology , vol.34 , pp. 1659-1672
    • Guo, X.1    Hamilton, P.J.2    Reish, N.J.3
  • 7
    • 59749085381 scopus 로고    scopus 로고
    • Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation
    • Hamdan FF, Gauthier J, Spiegelman D, et al. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med 2009;360:599-605.
    • (2009) N Engl J Med , vol.360 , pp. 599-605
    • Hamdan, F.F.1    Gauthier, J.2    Spiegelman, D.3
  • 8
    • 31144476149 scopus 로고    scopus 로고
    • The fragile X syndrome: One protein missing and 1001 disoriented mRNAs
    • Davidovic L, Trembiay S, Gravel M, et al. The fragile X syndrome: one protein missing and 1001 disoriented mRNAs. Med Sci (Paris) 2006;22:41-6
    • (2006) Med Sci (Paris) , vol.22 , pp. 41-46
    • Davidovic, L.1    Trembiay, S.2    Gravel, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.