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Volumn 29, Issue 6, 2015, Pages 453-463

Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCYSTEINE; AMPA RECEPTOR; AMPA RECEPTOR ANTAGONIST; GLUTAMATE RECEPTOR; GLUTAMIC ACID; KAINIC ACID RECEPTOR; KAINIC ACID RECEPTOR ANTAGONIST; METABOTROPIC RECEPTOR 5; METABOTROPIC RECEPTOR 5 ANTAGONIST; METABOTROPIC RECEPTOR ANTAGONIST; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; N METHYL DEXTRO ASPARTIC ACID RECEPTOR BLOCKING AGENT; N METHYL DEXTRO ASPARTIC ACID RECEPTOR PARTIAL AGONIST; N METHYL DEXTRO ASPARTIC ACID RECEPTOR STIMULATING AGENT; PARTIAL AGONIST; UNCLASSIFIED DRUG; AMINO ACID RECEPTOR AFFECTING AGENT;

EID: 84938207353     PISSN: 11727047     EISSN: 11791934     Source Type: Journal    
DOI: 10.1007/s40263-015-0252-0     Document Type: Article
Times cited : (22)

References (95)
  • 1
    • 84900527418 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010
    • CDC. Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. Morb Mortal Wkly Rep Surveill Summ. 2014;63(Suppl 2):1-21.
    • (2014) Morb Mortal Wkly Rep Surveill Summ , vol.63 , pp. 1-21
    • CDC1
  • 3
    • 0242291090 scopus 로고    scopus 로고
    • Model of autism: increased ratio of excitation/inhibition in key neural systems
    • 1:STN:280:DC%2BD3srivVKnug%3D%3D 14606691
    • Rubenstein JL, Merzenich MM. Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes Brain Behav. 2003;2(5):255-67.
    • (2003) Genes Brain Behav , vol.2 , Issue.5 , pp. 255-267
    • Rubenstein, J.L.1    Merzenich, M.M.2
  • 4
    • 0035856428 scopus 로고    scopus 로고
    • Postmortem brain abnormalities of the glutamate neurotransmitter system in autism
    • 1:CAS:528:DC%2BD38XnslQ%3D 11706102
    • Purcell AE, Jeon OH, Zimmerman AW, Blue ME, Pevsner J. Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Neurology. 2001;57(9):1618-28.
    • (2001) Neurology , vol.57 , Issue.9 , pp. 1618-1628
    • Purcell, A.E.1    Jeon, O.H.2    Zimmerman, A.W.3    Blue, M.E.4    Pevsner, J.5
  • 5
    • 80052990416 scopus 로고    scopus 로고
    • Metabotropic glutamate receptor 5 upregulation in children with autism is associated with underexpression of both fragile X mental retardation protein and GABA(A) receptor beta 3 in adults with autism
    • 1:CAS:528:DC%2BC3MXhsVWrsbnL
    • Fatemi SH, Folsom TD, Kneeland RE, Liesch SB. Metabotropic glutamate receptor 5 upregulation in children with autism is associated with underexpression of both fragile X mental retardation protein and GABA(A) receptor beta 3 in adults with autism. Anat Rec (Hoboken). 2011;294(10):1635-45.
    • (2011) Anat Rec (Hoboken) , vol.294 , Issue.10 , pp. 1635-1645
    • Fatemi, S.H.1    Folsom, T.D.2    Kneeland, R.E.3    Liesch, S.B.4
  • 6
    • 0037296984 scopus 로고    scopus 로고
    • Plasma amino acid levels in children with autism and their families
    • 12708584
    • Aldred S, Moore KM, Fitzgerald M, Waring RH. Plasma amino acid levels in children with autism and their families. J Autism Dev Disord. 2003;33(1):93-7.
    • (2003) J Autism Dev Disord , vol.33 , Issue.1 , pp. 93-97
    • Aldred, S.1    Moore, K.M.2    Fitzgerald, M.3    Waring, R.H.4
  • 7
    • 84863811998 scopus 로고    scopus 로고
    • Distinct plasma profile of polar neutral amino acids, leucine, and glutamate in children with autism spectrum disorders
    • 21713591
    • Tirouvanziam R, Obukhanych TV, Laval J, Aronov PA, Libove R, Banerjee AG, et al. Distinct plasma profile of polar neutral amino acids, leucine, and glutamate in children with autism spectrum disorders. J Autism Dev Disord. 2012;42(5):827-36.
    • (2012) J Autism Dev Disord , vol.42 , Issue.5 , pp. 827-836
    • Tirouvanziam, R.1    Obukhanych, T.V.2    Laval, J.3    Aronov, P.A.4    Libove, R.5    Banerjee, A.G.6
  • 8
    • 80053593781 scopus 로고    scopus 로고
    • Alteration of plasma glutamate and glutamine levels in children with high-functioning autism
    • 1:CAS:528:DC%2BC3MXhtlOitLrK 3187770 21998651
    • Shimmura C, Suda S, Tsuchiya KJ, Hashimoto K, Ohno K, Matsuzaki H, et al. Alteration of plasma glutamate and glutamine levels in children with high-functioning autism. PLoS One. 2011;6(10):e25340.
    • (2011) PLoS One , vol.6 , Issue.10
    • Shimmura, C.1    Suda, S.2    Tsuchiya, K.J.3    Hashimoto, K.4    Ohno, K.5    Matsuzaki, H.6
  • 10
    • 85047697869 scopus 로고    scopus 로고
    • In vivo 1H-magnetic resonance spectroscopy study of amygdala-hippocampal and parietal regions in autism
    • 17151175
    • Page LA, Daly E, Schmitz N, Simmons A, Toal F, Deeley Q, et al. In vivo 1H-magnetic resonance spectroscopy study of amygdala-hippocampal and parietal regions in autism. Am J Psychiatry. 2006;163(12):2189-92.
    • (2006) Am J Psychiatry , vol.163 , Issue.12 , pp. 2189-2192
    • Page, L.A.1    Daly, E.2    Schmitz, N.3    Simmons, A.4    Toal, F.5    Deeley, Q.6
  • 11
    • 84881312586 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy study of the glutamatergic system in adolescent males with high-functioning autistic disorder: a pilot study at 4T
    • 22986449
    • Joshi G, Biederman J, Wozniak J, Goldin RL, Crowley D, Furtak S, et al. Magnetic resonance spectroscopy study of the glutamatergic system in adolescent males with high-functioning autistic disorder: a pilot study at 4T. Eur Arch Psychiatry Clin Neurosci. 2013;263(5):379-84.
    • (2013) Eur Arch Psychiatry Clin Neurosci , vol.263 , Issue.5 , pp. 379-384
    • Joshi, G.1    Biederman, J.2    Wozniak, J.3    Goldin, R.L.4    Crowley, D.5    Furtak, S.6
  • 12
    • 84864398872 scopus 로고    scopus 로고
    • Elevated glutamatergic compounds in pregenual anterior cingulate in pediatric autism spectrum disorder demonstrated by 1H MRS and 1H MRSI
    • 1:CAS:528:DC%2BC38XhtFCgu7vF 3407186 22848344
    • Bejjani A, O'Neill J, Kim JA, Frew AJ, Yee VW, Ly R, et al. Elevated glutamatergic compounds in pregenual anterior cingulate in pediatric autism spectrum disorder demonstrated by 1H MRS and 1H MRSI. PLoS One. 2012;7(7):e38786.
    • (2012) PLoS One , vol.7 , Issue.7
    • Bejjani, A.1    O'Neill, J.2    Kim, J.A.3    Frew, A.J.4    Yee, V.W.5    Ly, R.6
  • 13
    • 84874031142 scopus 로고    scopus 로고
    • Increased glutamate concentration in the auditory cortex of persons with autism and first-degree relatives: a (1)H-MRS study
    • 3580156 23166003
    • Brown MS, Singel D, Hepburn S, Rojas DC. Increased glutamate concentration in the auditory cortex of persons with autism and first-degree relatives: a (1)H-MRS study. Autism Res. 2013;6(1):1-10.
    • (2013) Autism Res , vol.6 , Issue.1 , pp. 1-10
    • Brown, M.S.1    Singel, D.2    Hepburn, S.3    Rojas, D.C.4
  • 14
    • 79952312567 scopus 로고    scopus 로고
    • In vivo 1H-magnetic resonance spectroscopy study of the attentional networks in autism
    • Bernardi S, Anagnostou E, Shen J, Kolevzon A, Buxbaum JD, Hollander E, et al. In vivo 1H-magnetic resonance spectroscopy study of the attentional networks in autism. Brain Res. 2011;22(1380):198-205.
    • (2011) Brain Res , vol.22 , Issue.1380 , pp. 198-205
    • Bernardi, S.1    Anagnostou, E.2    Shen, J.3    Kolevzon, A.4    Buxbaum, J.D.5    Hollander, E.6
  • 15
    • 44649200420 scopus 로고    scopus 로고
    • An MRI and proton spectroscopy study of the thalamus in children with autism
    • 2467447 18508243
    • Hardan AY, Minshew NJ, Melhem NM, Srihari S, Jo B, Bansal R, et al. An MRI and proton spectroscopy study of the thalamus in children with autism. Psychiatry Res. 2008;163(2):97-105.
    • (2008) Psychiatry Res , vol.163 , Issue.2 , pp. 97-105
    • Hardan, A.Y.1    Minshew, N.J.2    Melhem, N.M.3    Srihari, S.4    Jo, B.5    Bansal, R.6
  • 16
    • 84887945184 scopus 로고    scopus 로고
    • Metabolic mapping of deep brain structures and associations with symptomatology in autism spectrum disorders
    • 3897261 24459534
    • Doyle-Thomas KA, Card D, Soorya LV, Wang AT, Fan J, Anagnostou E. Metabolic mapping of deep brain structures and associations with symptomatology in autism spectrum disorders. Res Autism Spectr Disord. 2014;8(1):44-51.
    • (2014) Res Autism Spectr Disord , vol.8 , Issue.1 , pp. 44-51
    • Doyle-Thomas, K.A.1    Card, D.2    Soorya, L.V.3    Wang, A.T.4    Fan, J.5    Anagnostou, E.6
  • 17
    • 84865192873 scopus 로고    scopus 로고
    • Metabolite alterations in autistic children: a 1H MR spectroscopy study
    • 1:CAS:528:DC%2BC38XhsVOqtLvK 22472469
    • Kubas B, Kulak W, Sobaniec W, Tarasow E, Lebkowska U, Walecki J. Metabolite alterations in autistic children: a 1H MR spectroscopy study. Adv Med Sci. 2012;57(1):152-6.
    • (2012) Adv Med Sci , vol.57 , Issue.1 , pp. 152-156
    • Kubas, B.1    Kulak, W.2    Sobaniec, W.3    Tarasow, E.4    Lebkowska, U.5    Walecki, J.6
  • 18
    • 84925778664 scopus 로고    scopus 로고
    • The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment
    • 1:CAS:528:DC%2BC2cXms1ajsr0%3D 24752754
    • Rojas DC. The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment. J Neural Transm. 2014;121(8):891-905.
    • (2014) J Neural Transm , vol.121 , Issue.8 , pp. 891-905
    • Rojas, D.C.1
  • 19
    • 61849145213 scopus 로고    scopus 로고
    • A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism
    • 1:CAS:528:DC%2BD1MXis12jtb0%3D 19139806
    • Buttenschon HN, Lauritsen MB, El Daoud A, Hollegaard M, Jorgensen M, Tvedegaard K, et al. A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism. J Neural Transm. 2009;116(3):381-8.
    • (2009) J Neural Transm , vol.116 , Issue.3 , pp. 381-388
    • Buttenschon, H.N.1    Lauritsen, M.B.2    El Daoud, A.3    Hollegaard, M.4    Jorgensen, M.5    Tvedegaard, K.6
  • 20
    • 79551709774 scopus 로고    scopus 로고
    • Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders
    • 3088769 21302352
    • Chang SC, Pauls DL, Lange C, Sasanfar R, Santangelo SL. Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet. 2011;156(2):233-9.
    • (2011) Am J Med Genet B Neuropsychiatr Genet , vol.156 , Issue.2 , pp. 233-239
    • Chang, S.C.1    Pauls, D.L.2    Lange, C.3    Sasanfar, R.4    Santangelo, S.L.5
  • 21
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • 3350576 22495309
    • O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012;485(7397):246-50.
    • (2012) Nature , vol.485 , Issue.7397 , pp. 246-250
    • O'Roak, B.J.1    Vives, L.2    Girirajan, S.3    Karakoc, E.4    Krumm, N.5    Coe, B.P.6
  • 22
    • 54049091941 scopus 로고    scopus 로고
    • Neuroligins and neurexins link synaptic function to cognitive disease
    • 2673233 18923512
    • Sudhof TC. Neuroligins and neurexins link synaptic function to cognitive disease. Nature. 2008;455(7215):903-11.
    • (2008) Nature , vol.455 , Issue.7215 , pp. 903-911
    • Sudhof, T.C.1
  • 25
    • 84877336575 scopus 로고    scopus 로고
    • Autism-associated neuroligin-3 mutations commonly disrupt tonic endocannabinoid signaling
    • 1:CAS:528:DC%2BC3sXlvVCmtrw%3D 3663050 23583622
    • Foldy C, Malenka RC, Sudhof TC. Autism-associated neuroligin-3 mutations commonly disrupt tonic endocannabinoid signaling. Neuron. 2013;78(3):498-509.
    • (2013) Neuron , vol.78 , Issue.3 , pp. 498-509
    • Foldy, C.1    Malenka, R.C.2    Sudhof, T.C.3
  • 26
    • 0037656313 scopus 로고    scopus 로고
    • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    • 1:CAS:528:DC%2BD3sXjt1Ontrg%3D 1925054 12669065
    • Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet. 2003;34(1):27-9.
    • (2003) Nat Genet , vol.34 , Issue.1 , pp. 27-29
    • Jamain, S.1    Quach, H.2    Betancur, C.3    Rastam, M.4    Colineaux, C.5    Gillberg, I.C.6
  • 27
    • 12144291350 scopus 로고    scopus 로고
    • X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
    • 1:CAS:528:DC%2BD2cXitV2gs7s%3D 1182268 14963808
    • Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet. 2004;74(3):552-7.
    • (2004) Am J Hum Genet , vol.74 , Issue.3 , pp. 552-557
    • Laumonnier, F.1    Bonnet-Brilhault, F.2    Gomot, M.3    Blanc, R.4    David, A.5    Moizard, M.P.6
  • 30
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • 1:CAS:528:DC%2BC3cXntF2msbk%3D 3021798 20531469
    • Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010;466(7304):368-72.
    • (2010) Nature , vol.466 , Issue.7304 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3    Anney, R.4    Merico, D.5    Regan, R.6
  • 31
    • 80054860297 scopus 로고    scopus 로고
    • Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
    • 1:CAS:528:DC%2BC3MXht1amu7nN 3204930 21424692
    • Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, et al. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet. 2011;130(4):563-73.
    • (2011) Hum Genet , vol.130 , Issue.4 , pp. 563-573
    • Gauthier, J.1    Siddiqui, T.J.2    Huashan, P.3    Yokomaku, D.4    Hamdan, F.F.5    Champagne, N.6
  • 32
    • 84855829221 scopus 로고    scopus 로고
    • Rare deletions at the neurexin 3 locus in autism spectrum disorder
    • 1:CAS:528:DC%2BC38XovFGhtw%3D%3D 3257896 22209245
    • Vaags AK, Lionel AC, Sato D, Goodenberger M, Stein QP, Curran S, et al. Rare deletions at the neurexin 3 locus in autism spectrum disorder. Am J Hum Genet. 2012;90(1):133-41.
    • (2012) Am J Hum Genet , vol.90 , Issue.1 , pp. 133-141
    • Vaags, A.K.1    Lionel, A.C.2    Sato, D.3    Goodenberger, M.4    Stein, Q.P.5    Curran, S.6
  • 33
    • 33645415686 scopus 로고    scopus 로고
    • Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
    • 1:CAS:528:DC%2BD28XjtVCisrw%3D 16571880
    • Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med. 2006;354(13):1370-7.
    • (2006) N Engl J Med , vol.354 , Issue.13 , pp. 1370-1377
    • Strauss, K.A.1    Puffenberger, E.G.2    Huentelman, M.J.3    Gottlieb, S.4    Dobrin, S.E.5    Parod, J.M.6
  • 34
    • 38749099110 scopus 로고    scopus 로고
    • Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders
    • 1:CAS:528:DC%2BD1cXhsFOksL0%3D 2253974 18179895
    • Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet. 2008;82(1):165-73.
    • (2008) Am J Hum Genet , vol.82 , Issue.1 , pp. 165-173
    • Bakkaloglu, B.1    O'Roak, B.J.2    Louvi, A.3    Gupta, A.R.4    Abelson, J.F.5    Morgan, T.M.6
  • 35
    • 38749140677 scopus 로고    scopus 로고
    • Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
    • 1:CAS:528:DC%2BD1cXhsFOksL8%3D 2253955 18179893
    • Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet. 2008;82(1):150-9.
    • (2008) Am J Hum Genet , vol.82 , Issue.1 , pp. 150-159
    • Alarcon, M.1    Abrahams, B.S.2    Stone, J.L.3    Duvall, J.A.4    Perederiy, J.V.5    Bomar, J.M.6
  • 36
    • 84885750845 scopus 로고    scopus 로고
    • Defining the contribution of CNTNAP2 to autism susceptibility
    • 1:CAS:528:DC%2BC3sXhs1yjsrfP 3798378 24147096
    • Sampath S, Bhat S, Gupta S, O'Connor A, West AB, Arking DE, et al. Defining the contribution of CNTNAP2 to autism susceptibility. PLoS One. 2013;8(10):e77906.
    • (2013) PLoS One , vol.8 , Issue.10
    • Sampath, S.1    Bhat, S.2    Gupta, S.3    O'Connor, A.4    West, A.B.5    Arking, D.E.6
  • 37
    • 84901773838 scopus 로고    scopus 로고
    • Balance and stability of synaptic structures during synaptic plasticity
    • 1:CAS:528:DC%2BC2cXmsFCntr8%3D 24742464
    • Meyer D, Bonhoeffer T, Scheuss V. Balance and stability of synaptic structures during synaptic plasticity. Neuron. 2014;82(2):430-43.
    • (2014) Neuron , vol.82 , Issue.2 , pp. 430-443
    • Meyer, D.1    Bonhoeffer, T.2    Scheuss, V.3
  • 38
    • 0034916230 scopus 로고    scopus 로고
    • PDZ domains and the organization of supramolecular complexes
    • 1:CAS:528:DC%2BD3MXls1Siu7Y%3D 11283303
    • Sheng M, Sala C. PDZ domains and the organization of supramolecular complexes. Annu Rev Neurosci. 2001;24:1-29.
    • (2001) Annu Rev Neurosci , vol.24 , pp. 1-29
    • Sheng, M.1    Sala, C.2
  • 39
    • 78649753616 scopus 로고    scopus 로고
    • Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome
    • 3146008 20952458
    • Feyder M, Karlsson RM, Mathur P, Lyman M, Bock R, Momenan R, et al. Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome. Am J Psychiatry. 2010;167(12):1508-17.
    • (2010) Am J Psychiatry , vol.167 , Issue.12 , pp. 1508-1517
    • Feyder, M.1    Karlsson, R.M.2    Mathur, P.3    Lyman, M.4    Bock, R.5    Momenan, R.6
  • 40
    • 84906672254 scopus 로고    scopus 로고
    • d-Cycloserine ameliorates social alterations that result from prenatal exposure to valproic acid
    • Wellmann KA, Varlinskaya EI, Mooney SM. d-Cycloserine ameliorates social alterations that result from prenatal exposure to valproic acid. Brain Res Bull. 2014;15(108C):1-9.
    • (2014) Brain Res Bull , vol.15 , Issue.108 , pp. 1-9
    • Wellmann, K.A.1    Varlinskaya, E.I.2    Mooney, S.M.3
  • 41
    • 84856615330 scopus 로고    scopus 로고
    • d-Cycloserine improves sociability and spontaneous stereotypic behaviors in 4-week old mice
    • Deutsch SI, Pepe GJ, Burket JA, Winebarger EE, Herndon AL, Benson AD. d-Cycloserine improves sociability and spontaneous stereotypic behaviors in 4-week old mice. Brain Res. 2012;23(1439):96-107.
    • (2012) Brain Res , vol.23 , Issue.1439 , pp. 96-107
    • Deutsch, S.I.1    Pepe, G.J.2    Burket, J.A.3    Winebarger, E.E.4    Herndon, A.L.5    Benson, A.D.6
  • 42
    • 79960238536 scopus 로고    scopus 로고
    • d-Cycloserine facilitates socially reinforced learning in an animal model relevant to autism spectrum disorders
    • 1:CAS:528:DC%2BC3MXoslCmu7k%3D 3164818 21481844
    • Modi ME, Young LJ. d-Cycloserine facilitates socially reinforced learning in an animal model relevant to autism spectrum disorders. Biol Psychiatry. 2011;70(3):298-304.
    • (2011) Biol Psychiatry , vol.70 , Issue.3 , pp. 298-304
    • Modi, M.E.1    Young, L.J.2
  • 43
    • 84878804982 scopus 로고    scopus 로고
    • d-Cycloserine improves sociability in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders with altered Ras/Raf/ERK1/2 signaling
    • 1:CAS:528:DC%2BC3sXhtVOrt7zK 23685206
    • Burket JA, Benson AD, Tang AH, Deutsch SI. d-Cycloserine improves sociability in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders with altered Ras/Raf/ERK1/2 signaling. Brain Res Bull. 2013;96:62-70.
    • (2013) Brain Res Bull , vol.96 , pp. 62-70
    • Burket, J.A.1    Benson, A.D.2    Tang, A.H.3    Deutsch, S.I.4
  • 44
    • 84862297282 scopus 로고    scopus 로고
    • Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
    • 1:CAS:528:DC%2BC38Xos1emtrw%3D 22699620
    • Won H, Lee HR, Gee HY, Mah W, Kim JI, Lee J, et al. Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature. 2012;486(7402):261-5.
    • (2012) Nature , vol.486 , Issue.7402 , pp. 261-265
    • Won, H.1    Lee, H.R.2    Gee, H.Y.3    Mah, W.4    Kim, J.I.5    Lee, J.6
  • 46
    • 84901333522 scopus 로고    scopus 로고
    • A trial of d-cycloserine to treat stereotypies in older adolescents and young adults with autism spectrum disorder
    • 1:CAS:528:DC%2BC2cXotFCrs7c%3D 4354861 24824660
    • Urbano M, Okwara L, Manser P, Hartmann K, Herndon A, Deutsch SI. A trial of d-cycloserine to treat stereotypies in older adolescents and young adults with autism spectrum disorder. Clin Neuropharmacol. 2014;37(3):69-72.
    • (2014) Clin Neuropharmacol. , vol.37 , Issue.3 , pp. 69-72
    • Urbano, M.1    Okwara, L.2    Manser, P.3    Hartmann, K.4    Herndon, A.5    Deutsch, S.I.6
  • 47
    • 84929655995 scopus 로고    scopus 로고
    • Amantadine extended release for levodopa-induced dyskinesia in Parkinson's disease (EASED Study)
    • 1:CAS:528:DC%2BC2MXovV2iu7k%3D 25650051
    • Pahwa R, Tanner CM, Hauser RA, Sethi K, Isaacson S, Truong D, et al. Amantadine extended release for levodopa-induced dyskinesia in Parkinson's disease (EASED Study). Mov Disord. 2015;30(6):788-95.
    • (2015) Mov Disord , vol.30 , Issue.6 , pp. 788-795
    • Pahwa, R.1    Tanner, C.M.2    Hauser, R.A.3    Sethi, K.4    Isaacson, S.5    Truong, D.6
  • 48
    • 14344267755 scopus 로고    scopus 로고
    • Double-blind, placebo-controlled study of amantadine hydrochloride in the treatment of children with autistic disorder
    • 1:STN:280:DC%2BD3Mzhslylsw%3D%3D 11392343
    • King BH, Wright DM, Handen BL, Sikich L, Zimmerman AW, McMahon W, et al. Double-blind, placebo-controlled study of amantadine hydrochloride in the treatment of children with autistic disorder. J Am Acad Child Adolesc Psychiatry. 2001;40(6):658-65.
    • (2001) J Am Acad Child Adolesc Psychiatry , vol.40 , Issue.6 , pp. 658-665
    • King, B.H.1    Wright, D.M.2    Handen, B.L.3    Sikich, L.4    Zimmerman, A.W.5    McMahon, W.6
  • 49
    • 84896706419 scopus 로고    scopus 로고
    • Memantine in patients with moderate to severe Alzheimer's disease: meta-analyses using realistic definitions of response
    • 1:CAS:528:DC%2BC2cXivVCls7s%3D 24107324
    • Wilkinson D, Wirth Y, Goebel C. Memantine in patients with moderate to severe Alzheimer's disease: meta-analyses using realistic definitions of response. Dement Geriatr Cogn Disord. 2014;37(1-2):71-85.
    • (2014) Dement Geriatr Cogn Disord , vol.37 , Issue.1-2 , pp. 71-85
    • Wilkinson, D.1    Wirth, Y.2    Goebel, C.3
  • 50
    • 33847170993 scopus 로고    scopus 로고
    • A retrospective study of memantine in children and adolescents with pervasive developmental disorders
    • 1:CAS:528:DC%2BD2sXhvVeis7Y%3D 17016714
    • Erickson CA, Posey DJ, Stigler KA, Mullett J, Katschke AR, McDougle CJ. A retrospective study of memantine in children and adolescents with pervasive developmental disorders. Psychopharmacology. 2007;191(1):141-7.
    • (2007) Psychopharmacology , vol.191 , Issue.1 , pp. 141-147
    • Erickson, C.A.1    Posey, D.J.2    Stigler, K.A.3    Mullett, J.4    Katschke, A.R.5    McDougle, C.J.6
  • 51
    • 33750950870 scopus 로고    scopus 로고
    • A prospective, open-label trial of memantine in the treatment of cognitive, behavioral, and memory dysfunction in pervasive developmental disorders
    • 17069541
    • Owley T, Salt J, Guter S, Grieve A, Walton L, Ayuyao N, et al. A prospective, open-label trial of memantine in the treatment of cognitive, behavioral, and memory dysfunction in pervasive developmental disorders. J Child Adolesc Psychopharmacol. 2006;16(5):517-24.
    • (2006) J Child Adolesc Psychopharmacol. , vol.16 , Issue.5 , pp. 517-524
    • Owley, T.1    Salt, J.2    Guter, S.3    Grieve, A.4    Walton, L.5    Ayuyao, N.6
  • 53
    • 0029753270 scopus 로고    scopus 로고
    • The pharmacology and mechanism of action of riluzole
    • 1:CAS:528:DyaK2sXhtlKrtA%3D%3D 8959995
    • Doble A. The pharmacology and mechanism of action of riluzole. Neurology. 1996;47(6 Suppl 4):S233-41.
    • (1996) Neurology , vol.47 , Issue.6 , pp. S233-S241
    • Doble, A.1
  • 54
    • 0035224906 scopus 로고    scopus 로고
    • Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND)
    • 22419278
    • Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2012;3:CD001447. Accessed May 29 2015.
    • (2012) Cochrane Database Syst Rev , vol.3
    • Miller, R.G.1    Mitchell, J.D.2    Moore, D.H.3
  • 58
    • 23844547177 scopus 로고    scopus 로고
    • Topiramate reduces AMPA-induced Ca(2+) transients and inhibits GluR1 subunit phosphorylation in astrocytes from primary cultures
    • 16092949
    • Angehagen M, Ronnback L, Hansson E, Ben-Menachem E. Topiramate reduces AMPA-induced Ca(2+) transients and inhibits GluR1 subunit phosphorylation in astrocytes from primary cultures. J Neurochem. 2005;94(4):1124-30.
    • (2005) J Neurochem , vol.94 , Issue.4 , pp. 1124-1130
    • Angehagen, M.1    Ronnback, L.2    Hansson, E.3    Ben-Menachem, E.4
  • 59
    • 8144227746 scopus 로고    scopus 로고
    • A retrospective assessment of topiramate in children and adolescents with pervasive developmental disorders
    • 15650499
    • Hardan AY, Jou RJ, Handen BL. A retrospective assessment of topiramate in children and adolescents with pervasive developmental disorders. J Child Adolesc Psychopharmacol. 2004;14(3):426-32.
    • (2004) J Child Adolesc Psychopharmacol , vol.14 , Issue.3 , pp. 426-432
    • Hardan, A.Y.1    Jou, R.J.2    Handen, B.L.3
  • 60
    • 2442661885 scopus 로고    scopus 로고
    • The behavioral neurogenetics of fragile X syndrome: analyzing gene-brain-behavior relationships in child developmental psychopathologies
    • 14984133
    • Reiss AL, Dant CC. The behavioral neurogenetics of fragile X syndrome: analyzing gene-brain-behavior relationships in child developmental psychopathologies. Dev Psychopathol. 2003;15(4):927-68.
    • (2003) Dev Psychopathol , vol.15 , Issue.4 , pp. 927-968
    • Reiss, A.L.1    Dant, C.C.2
  • 61
    • 0025974956 scopus 로고
    • Cognitive profiles associated with the fra(X) syndrome in males and females
    • 1:STN:280:DyaK3M3ptVSruw%3D%3D 2063895
    • Freund LS, Reiss AL. Cognitive profiles associated with the fra(X) syndrome in males and females. Am J Med Genet. 1991;38(4):542-7.
    • (1991) Am J Med Genet , vol.38 , Issue.4 , pp. 542-547
    • Freund, L.S.1    Reiss, A.L.2
  • 62
    • 77955176551 scopus 로고    scopus 로고
    • A systematic review of population screening for fragile X syndrome
    • 20548240
    • Hill MK, Archibald AD, Cohen J, Metcalfe SA. A systematic review of population screening for fragile X syndrome. Genet Med. 2010;12(7):396-410.
    • (2010) Genet Med , vol.12 , Issue.7 , pp. 396-410
    • Hill, M.K.1    Archibald, A.D.2    Cohen, J.3    Metcalfe, S.A.4
  • 63
    • 84925536715 scopus 로고    scopus 로고
    • DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in Fragile X syndrome
    • 25234484
    • Wheeler AC, Mussey J, Villagomez A, Bishop E, Raspa M, Edwards A, et al. DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in Fragile X syndrome. J Autism Dev Disord. 2015;45(3):816-29.
    • (2015) J Autism Dev Disord , vol.45 , Issue.3 , pp. 816-829
    • Wheeler, A.C.1    Mussey, J.2    Villagomez, A.3    Bishop, E.4    Raspa, M.5    Edwards, A.6
  • 64
    • 0032461803 scopus 로고    scopus 로고
    • Autism: the point of view from fragile X studies
    • 1:STN:280:DyaK1M%2FjtFeiug%3D%3D 9813775
    • Feinstein C, Reiss AL. Autism: the point of view from fragile X studies. J Autism Dev Disord. 1998;28(5):393-405.
    • (1998) J Autism Dev Disord , vol.28 , Issue.5 , pp. 393-405
    • Feinstein, C.1    Reiss, A.L.2
  • 65
    • 1842582513 scopus 로고    scopus 로고
    • Social behavior profile in young males with fragile X syndrome: characteristics and specificity
    • 15039968
    • Kau AS, Tierney E, Bukelis I, Stump MH, Kates WR, Trescher WH, et al. Social behavior profile in young males with fragile X syndrome: characteristics and specificity. Am J Med Genet A. 2004;126A(1):9-17.
    • (2004) Am J Med Genet A. , vol.126 , Issue.1 , pp. 9-17
    • Kau, A.S.1    Tierney, E.2    Bukelis, I.3    Stump, M.H.4    Kates, W.R.5    Trescher, W.H.6
  • 67
    • 34249929983 scopus 로고    scopus 로고
    • Social phenotypes in neurogenetic syndromes
    • 17562583
    • Feinstein C, Singh S. Social phenotypes in neurogenetic syndromes. Child Adolesc Psychiatr Clin N Am. 2007;16(3):631-47.
    • (2007) Child Adolesc Psychiatr Clin N Am , vol.16 , Issue.3 , pp. 631-647
    • Feinstein, C.1    Singh, S.2
  • 68
  • 69
    • 78650937072 scopus 로고    scopus 로고
    • Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
    • 1:CAS:528:DC%2BC3MXhsFWisbw%3D 21209411
    • Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, et al. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med. 2011;3(64):64ra1.
    • (2011) Sci Transl Med. , vol.3 , Issue.64 , pp. 64ra1
    • Jacquemont, S.1    Curie, A.2    Des Portes, V.3    Torrioli, M.G.4    Berry-Kravis, E.5    Hagerman, R.J.6
  • 70
    • 84922777635 scopus 로고    scopus 로고
    • Metabotropic glutamate receptor 5 negative allosteric modulators: discovery of 2-chloro-4-[1-(4-fluorophenyl)-2,5-dimethyl-1H-imidazol-4-ylethynyl]pyridine (Basimglurant, RO4917523), a promising novel medicine for psychiatric diseases
    • 1:CAS:528:DC%2BC2MXltVaitA%3D%3D 25565255
    • Jaeschke G, Kolczewski S, Spooren W, Vieira E, Bitter-Stoll N, Boissin P, et al. Metabotropic glutamate receptor 5 negative allosteric modulators: discovery of 2-chloro-4-[1-(4-fluorophenyl)-2,5-dimethyl-1H-imidazol-4-ylethynyl]pyridine (Basimglurant, RO4917523), a promising novel medicine for psychiatric diseases. J Med Chem. 2015;58(3):1358-71.
    • (2015) J Med Chem , vol.58 , Issue.3 , pp. 1358-1371
    • Jaeschke, G.1    Kolczewski, S.2    Spooren, W.3    Vieira, E.4    Bitter-Stoll, N.5    Boissin, P.6
  • 71
    • 67650483697 scopus 로고    scopus 로고
    • N-Acetylcysteine, a glutamate modulator, in the treatment of trichotillomania: a double-blind, placebo-controlled study
    • 1:CAS:528:DC%2BD1MXptFGksL8%3D 19581567
    • Grant JE, Odlaug BL, Kim SW. N-Acetylcysteine, a glutamate modulator, in the treatment of trichotillomania: a double-blind, placebo-controlled study. Arch Gen Psychiatry. 2009;66(7):756-63.
    • (2009) Arch Gen Psychiatry , vol.66 , Issue.7 , pp. 756-763
    • Grant, J.E.1    Odlaug, B.L.2    Kim, S.W.3
  • 72
    • 49749109893 scopus 로고    scopus 로고
    • N-Acetyl cysteine for depressive symptoms in bipolar disorder - a double-blind randomized placebo-controlled trial
    • 1:CAS:528:DC%2BD1cXhtVensr7J 18534556
    • Berk M, Copolov DL, Dean O, Lu K, Jeavons S, Schapkaitz I, et al. N-Acetyl cysteine for depressive symptoms in bipolar disorder - a double-blind randomized placebo-controlled trial. Biol Psychiatry. 2008;64(6):468-75.
    • (2008) Biol Psychiatry , vol.64 , Issue.6 , pp. 468-475
    • Berk, M.1    Copolov, D.L.2    Dean, O.3    Lu, K.4    Jeavons, S.5    Schapkaitz, I.6
  • 73
    • 48749112603 scopus 로고    scopus 로고
    • N-Acetyl cysteine as a glutathione precursor for schizophrenia - a double-blind, randomized, placebo-controlled trial
    • 1:CAS:528:DC%2BD1cXps1Gmt78%3D 18436195
    • Berk M, Copolov D, Dean O, Lu K, Jeavons S, Schapkaitz I, et al. N-Acetyl cysteine as a glutathione precursor for schizophrenia - a double-blind, randomized, placebo-controlled trial. Biol Psychiatry. 2008;64(5):361-8.
    • (2008) Biol Psychiatry , vol.64 , Issue.5 , pp. 361-368
    • Berk, M.1    Copolov, D.2    Dean, O.3    Lu, K.4    Jeavons, S.5    Schapkaitz, I.6
  • 74
    • 84861019501 scopus 로고    scopus 로고
    • A randomized controlled pilot trial of oral N-acetylcysteine in children with autism
    • 1:CAS:528:DC%2BC38Xnt1Clu7k%3D 22342106
    • Hardan AY, Fung LK, Libove RA, Obukhanych TV, Nair S, Herzenberg LA, et al. A randomized controlled pilot trial of oral N-acetylcysteine in children with autism. Biol Psychiatry. 2012;71(11):956-61.
    • (2012) Biol Psychiatry , vol.71 , Issue.11 , pp. 956-961
    • Hardan, A.Y.1    Fung, L.K.2    Libove, R.A.3    Obukhanych, T.V.4    Nair, S.5    Herzenberg, L.A.6
  • 75
    • 0036682267 scopus 로고    scopus 로고
    • Risperidone in children with autism and serious behavioral problems
    • RUPP. Risperidone in children with autism and serious behavioral problems. N Engl J Med. 2002;347(5):314-21.
    • (2002) N Engl J Med , vol.347 , Issue.5 , pp. 314-321
    • RUPP1
  • 77
    • 84861660149 scopus 로고    scopus 로고
    • Differences in white matter fiber tract development present from 6 to 24 months in infants with autism
    • 3377782 22362397
    • Wolff JJ, Gu H, Gerig G, Elison JT, Styner M, Gouttard S, et al. Differences in white matter fiber tract development present from 6 to 24 months in infants with autism. Am J Psychiatry. 2012;169(6):589-600.
    • (2012) Am J Psychiatry , vol.169 , Issue.6 , pp. 589-600
    • Wolff, J.J.1    Gu, H.2    Gerig, G.3    Elison, J.T.4    Styner, M.5    Gouttard, S.6
  • 78
    • 77949300796 scopus 로고    scopus 로고
    • 11C-PiB PET assessment of change in fibrillar amyloid-beta load in patients with Alzheimer's disease treated with bapineuzumab: a phase 2, double-blind, placebo-controlled, ascending-dose study
    • 1:CAS:528:DC%2BC3cXltF2kt7Y%3D 20189881
    • Rinne JO, Brooks DJ, Rossor MN, Fox NC, Bullock R, Klunk WE, et al. 11C-PiB PET assessment of change in fibrillar amyloid-beta load in patients with Alzheimer's disease treated with bapineuzumab: a phase 2, double-blind, placebo-controlled, ascending-dose study. Lancet Neurol. 2010;9(4):363-72.
    • (2010) Lancet Neurol , vol.9 , Issue.4 , pp. 363-372
    • Rinne, J.O.1    Brooks, D.J.2    Rossor, M.N.3    Fox, N.C.4    Bullock, R.5    Klunk, W.E.6
  • 79
    • 33747613561 scopus 로고    scopus 로고
    • Enriched environments, experience-dependent plasticity and disorders of the nervous system
    • 1:CAS:528:DC%2BD28XotlCgtr0%3D 16924259
    • Nithianantharajah J, Hannan AJ. Enriched environments, experience-dependent plasticity and disorders of the nervous system. Nat Rev Neurosci. 2006;7(9):697-709.
    • (2006) Nat Rev Neurosci , vol.7 , Issue.9 , pp. 697-709
    • Nithianantharajah, J.1    Hannan, A.J.2
  • 80
    • 23844547567 scopus 로고    scopus 로고
    • Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome
    • 1:CAS:528:DC%2BD2MXoslKiu7k%3D 1183589 16076950
    • Restivo L, Ferrari F, Passino E, Sgobio C, Bock J, Oostra BA, et al. Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome. Proc Natl Acad Sci USA. 2005;102(32):11557-62.
    • (2005) Proc Natl Acad Sci USA , vol.102 , Issue.32 , pp. 11557-11562
    • Restivo, L.1    Ferrari, F.2    Passino, E.3    Sgobio, C.4    Bock, J.5    Oostra, B.A.6
  • 81
    • 78751705368 scopus 로고    scopus 로고
    • Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
    • 1:CAS:528:DC%2BC3MXhvFKrs7g%3D 3003876 20972252
    • Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, et al. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. J Med Genet. 2011;48(1):48-54.
    • (2011) J Med Genet , vol.48 , Issue.1 , pp. 48-54
    • Pagnamenta, A.T.1    Khan, H.2    Walker, S.3    Gerrelli, D.4    Wing, K.5    Bonaglia, M.C.6
  • 82
    • 67349112868 scopus 로고    scopus 로고
    • Common genetic variants on 5p14.1 associate with autism spectrum disorders
    • 1:CAS:528:DC%2BD1MXlt1Sku7g%3D 2943511 19404256
    • Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 2009;459(7246):528-33.
    • (2009) Nature , vol.459 , Issue.7246 , pp. 528-533
    • Wang, K.1    Zhang, H.2    Ma, D.3    Bucan, M.4    Glessner, J.T.5    Abrahams, B.S.6
  • 83
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    • 1:CAS:528:DC%2BC3MXnsVyrt7Y%3D 3939065 21658581
    • Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011;70(5):863-85.
    • (2011) Neuron , vol.70 , Issue.5 , pp. 863-885
    • Sanders, S.J.1    Ercan-Sencicek, A.G.2    Hus, V.3    Luo, R.4    Murtha, M.T.5    Moreno-De-Luca, D.6
  • 84
    • 84908000936 scopus 로고    scopus 로고
    • DYRK1A-mediated phosphorylation of GluN2A at Ser (1048) regulates the surface expression and channel activity of GluN1/GluN2A receptors
    • 4201086 25368549
    • Grau C, Arato K, Fernandez-Fernandez JM, Valderrama A, Sindreu C, Fillat C, et al. DYRK1A-mediated phosphorylation of GluN2A at Ser (1048) regulates the surface expression and channel activity of GluN1/GluN2A receptors. Front Cell Neurosci. 2014;8:331.
    • (2014) Front Cell Neurosci. , vol.8 , pp. 331
    • Grau, C.1    Arato, K.2    Fernandez-Fernandez, J.M.3    Valderrama, A.4    Sindreu, C.5    Fillat, C.6
  • 85
    • 67649400549 scopus 로고    scopus 로고
    • The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders
    • 1:CAS:528:DC%2BD1MXotFCisLs%3D 19541375
    • Betancur C, Sakurai T, Buxbaum JD. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci. 2009;32(7):402-12.
    • (2009) Trends Neurosci , vol.32 , Issue.7 , pp. 402-412
    • Betancur, C.1    Sakurai, T.2    Buxbaum, J.D.3
  • 86
    • 1842428655 scopus 로고    scopus 로고
    • Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism
    • 15056512
    • Ramoz N, Reichert JG, Smith CJ, Silverman JM, Bespalova IN, Davis KL, et al. Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. Am J Psychiatry. 2004;161(4):662-9.
    • (2004) Am J Psychiatry , vol.161 , Issue.4 , pp. 662-669
    • Ramoz, N.1    Reichert, J.G.2    Smith, C.J.3    Silverman, J.M.4    Bespalova, I.N.5    Davis, K.L.6
  • 88
    • 77952374703 scopus 로고    scopus 로고
    • De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
    • 1:CAS:528:DC%2BC3cXlsFyiurY%3D 2867875 20385823
    • Gauthier J, Champagne N, Lafreniere RG, Xiong L, Spiegelman D, Brustein E, et al. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci USA. 2010;107(17):7863-8.
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.17 , pp. 7863-7868
    • Gauthier, J.1    Champagne, N.2    Lafreniere, R.G.3    Xiong, L.4    Spiegelman, D.5    Brustein, E.6
  • 89
    • 33845889998 scopus 로고    scopus 로고
    • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    • 1:CAS:528:DC%2BD28XhtlGktLvF 2082049 17173049
    • Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. 2007;39(1):25-7.
    • (2007) Nat Genet , vol.39 , Issue.1 , pp. 25-27
    • Durand, C.M.1    Betancur, C.2    Boeckers, T.M.3    Bockmann, J.4    Chaste, P.5    Fauchereau, F.6
  • 90
    • 77952827032 scopus 로고    scopus 로고
    • Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
    • 1:CAS:528:DC%2BC3cXmtFalt70%3D 20473310
    • Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet. 2010;42(6):489-91.
    • (2010) Nat Genet , vol.42 , Issue.6 , pp. 489-491
    • Berkel, S.1    Marshall, C.R.2    Weiss, B.3    Howe, J.4    Roeth, R.5    Moog, U.6
  • 91
    • 84860739976 scopus 로고    scopus 로고
    • SHANK1 deletions in males with autism spectrum disorder
    • 1:CAS:528:DC%2BC38XlsFGhsrY%3D 3376495 22503632
    • Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, et al. SHANK1 deletions in males with autism spectrum disorder. Am J Hum Genet. 2012;90(5):879-87.
    • (2012) Am J Hum Genet , vol.90 , Issue.5 , pp. 879-887
    • Sato, D.1    Lionel, A.C.2    Leblond, C.S.3    Prasad, A.4    Pinto, D.5    Walker, S.6
  • 92
    • 84891902104 scopus 로고    scopus 로고
    • The emerging role of SHANK genes in neuropsychiatric disorders
    • 1:CAS:528:DC%2BC2cXnt1Krsw%3D%3D 24124131
    • Guilmatre A, Huguet G, Delorme R, Bourgeron T. The emerging role of SHANK genes in neuropsychiatric disorders. Dev Neurobiol. 2014;74(2):113-22.
    • (2014) Dev Neurobiol , vol.74 , Issue.2 , pp. 113-122
    • Guilmatre, A.1    Huguet, G.2    Delorme, R.3    Bourgeron, T.4
  • 93
    • 79957456437 scopus 로고    scopus 로고
    • SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
    • 1:CAS:528:DC%2BC3MXmsVWrsb8%3D 21441247
    • Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, et al. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. Hum Mol Genet. 2011;20(12):2297-307.
    • (2011) Hum Mol Genet , vol.20 , Issue.12 , pp. 2297-2307
    • Fassio, A.1    Patry, L.2    Congia, S.3    Onofri, F.4    Piton, A.5    Gauthier, J.6
  • 94
    • 84890350967 scopus 로고    scopus 로고
    • SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth
    • 1:CAS:528:DC%2BC3sXhvFegsLvI 3857945 23956174
    • Corradi A, Fadda M, Piton A, Patry L, Marte A, Rossi P, et al. SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. Hum Mol Genet. 2014;23(1):90-103.
    • (2014) Hum Mol Genet , vol.23 , Issue.1 , pp. 90-103
    • Corradi, A.1    Fadda, M.2    Piton, A.3    Patry, L.4    Marte, A.5    Rossi, P.6
  • 95
    • 39049163023 scopus 로고    scopus 로고
    • Association between microdeletion and microduplication at 16p11.2 and autism
    • 1:CAS:528:DC%2BD1cXhvVeitbY%3D 18184952
    • Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008;358(7):667-75.
    • (2008) N Engl J Med , vol.358 , Issue.7 , pp. 667-675
    • Weiss, L.A.1    Shen, Y.2    Korn, J.M.3    Arking, D.E.4    Miller, D.T.5    Fossdal, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.