메뉴 건너뛰기




Volumn 56, Issue 1, 2014, Pages 12-18

The genetic landscape of autism spectrum disorders

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

EID: 84890152849     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12278     Document Type: Review
Times cited : (73)

References (62)
  • 1
    • 84862160222 scopus 로고    scopus 로고
    • Global prevalence of autism and other pervasive developmental disorders
    • Elsabbagh M, Divan G, Koh YJ, et al. Global prevalence of autism and other pervasive developmental disorders. Autism Res 2012; 5: 160-79.
    • (2012) Autism Res , vol.5 , pp. 160-179
    • Elsabbagh, M.1    Divan, G.2    Koh, Y.J.3
  • 2
    • 80051944739 scopus 로고    scopus 로고
    • Genetic heritability and shared environmental factors among twin pairs with autism
    • Hallmayer J, Cleveland S, Torres A, et al. Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry 2011; 68: 1095-102.
    • (2011) Arch Gen Psychiatry , vol.68 , pp. 1095-1102
    • Hallmayer, J.1    Cleveland, S.2    Torres, A.3
  • 3
    • 79955030459 scopus 로고    scopus 로고
    • Autism spectrum disorders - a genetics review
    • Miles JH. Autism spectrum disorders - a genetics review. Genet Med 2011; 13: 278-94.
    • (2011) Genet Med , vol.13 , pp. 278-294
    • Miles, J.H.1
  • 4
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007; 316: 445-9.
    • (2007) Science , vol.316 , pp. 445-449
    • Sebat, J.1    Lakshmi, B.2    Malhotra, D.3
  • 5
    • 77950564908 scopus 로고    scopus 로고
    • Clinical genetic testing for patients with autism spectrum disorders
    • Shen Y, Dies KA, Holm IA, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010; 125: e727-35.
    • (2010) Pediatrics , vol.125
    • Shen, Y.1    Dies, K.A.2    Holm, I.A.3
  • 6
    • 0033056856 scopus 로고    scopus 로고
    • Comorbidity of autistic spectrum disorders in children with Down syndrome
    • Kent L, Evans J, Paul M, Sharp M. Comorbidity of autistic spectrum disorders in children with Down syndrome. Dev Med Child Neurol 1999; 41: 153-8.
    • (1999) Dev Med Child Neurol , vol.41 , pp. 153-158
    • Kent, L.1    Evans, J.2    Paul, M.3    Sharp, M.4
  • 7
    • 84859990409 scopus 로고    scopus 로고
    • Working up autism: the practical role of medical genetics
    • Gurrieri F. Working up autism: the practical role of medical genetics. Am J Med Genet C Semin Med Genet 2012; 160C: 104-10.
    • (2012) Am J Med Genet C Semin Med Genet , vol.160 , pp. 104-110
    • Gurrieri, F.1
  • 9
    • 14044258489 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in autism spectrum disorders: a population-based study
    • Oliveira G, Diogo L, Grazina M, et al. Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Child Neurol 2005; 47: 185-9.
    • (2005) Dev Med Child Neurol , vol.47 , pp. 185-189
    • Oliveira, G.1    Diogo, L.2    Grazina, M.3
  • 11
    • 84867687830 scopus 로고    scopus 로고
    • Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
    • Novarino G, El-Fishawy P, Kayserili H, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science 2012; 338: 394-7.
    • (2012) Science , vol.338 , pp. 394-397
    • Novarino, G.1    El-Fishawy, P.2    Kayserili, H.3
  • 12
    • 24144501508 scopus 로고    scopus 로고
    • Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder
    • Reddy KS. Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Med Genet 2005; 6: 3.
    • (2005) BMC Med Genet , vol.6 , pp. 3
    • Reddy, K.S.1
  • 13
    • 33750283784 scopus 로고    scopus 로고
    • Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation
    • Farzin F, Perry H, Hessl D, et al. Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr 2006; 27: S137-44.
    • (2006) J Dev Behav Pediatr , vol.27
    • Farzin, F.1    Perry, H.2    Hessl, D.3
  • 14
    • 56649106246 scopus 로고    scopus 로고
    • Autism profiles of males with fragile X syndrome
    • Harris SW, Hessl D, Goodlin-Jones B, et al. Autism profiles of males with fragile X syndrome. Am J Ment Retard 2008; 113: 427-38.
    • (2008) Am J Ment Retard , vol.113 , pp. 427-438
    • Harris, S.W.1    Hessl, D.2    Goodlin-Jones, B.3
  • 15
    • 33646683567 scopus 로고    scopus 로고
    • MeCP2 dysfunction in Rett syndrome and related disorders
    • Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev 2006; 16: 276-81.
    • (2006) Curr Opin Genet Dev , vol.16 , pp. 276-281
    • Moretti, P.1    Zoghbi, H.Y.2
  • 16
    • 41849126341 scopus 로고    scopus 로고
    • The diagnosis of autism in a female: could it be Rett syndrome?
    • Young DJ, Bebbington A, Anderson A, et al. The diagnosis of autism in a female: could it be Rett syndrome? Eur J Pediatr 2008; 167: 661-9.
    • (2008) Eur J Pediatr , vol.167 , pp. 661-669
    • Young, D.J.1    Bebbington, A.2    Anderson, A.3
  • 17
    • 42449103568 scopus 로고    scopus 로고
    • Characterization of autism in young children with tuberous sclerosis complex
    • Jeste SS, Sahin M, Bolton P, Ploubidis GB, Humphrey A. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol 2008; 23: 520-5.
    • (2008) J Child Neurol , vol.23 , pp. 520-525
    • Jeste, S.S.1    Sahin, M.2    Bolton, P.3    Ploubidis, G.B.4    Humphrey, A.5
  • 18
    • 0031824657 scopus 로고    scopus 로고
    • Autism and tuberous sclerosis complex: prevalence and clinical features
    • Baker P, Piven J, Sato Y. Autism and tuberous sclerosis complex: prevalence and clinical features. J Autism Dev Disord 1998; 28: 279-85.
    • (1998) J Autism Dev Disord , vol.28 , pp. 279-285
    • Baker, P.1    Piven, J.2    Sato, Y.3
  • 19
    • 34247529566 scopus 로고    scopus 로고
    • The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families
    • de Vries PJ, Hunt A, Bolton PF. The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families. Eur Child Adolesc Psychiatry 2007; 16: 16-24.
    • (2007) Eur Child Adolesc Psychiatry , vol.16 , pp. 16-24
    • de Vries, P.J.1    Hunt, A.2    Bolton, P.F.3
  • 20
    • 34250812575 scopus 로고    scopus 로고
    • Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
    • Buxbaum JD, Cai G, Chaste P, et al. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet 2007; 144B: 484-91.
    • (2007) Am J Med Genet B Neuropsychiatr Genet , vol.144 , pp. 484-491
    • Buxbaum, J.D.1    Cai, G.2    Chaste, P.3
  • 21
    • 20244367771 scopus 로고    scopus 로고
    • Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
    • Butler MG, Dasouki MJ, Zhou XP, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005; 42: 318-21.
    • (2005) J Med Genet , vol.42 , pp. 318-321
    • Butler, M.G.1    Dasouki, M.J.2    Zhou, X.P.3
  • 22
    • 79960231902 scopus 로고    scopus 로고
    • SHANK3, the synapse, and autism
    • Herbert MR. SHANK3, the synapse, and autism. N Engl J Med 2011; 365: 173-5.
    • (2011) N Engl J Med , vol.365 , pp. 173-175
    • Herbert, M.R.1
  • 23
    • 79958042272 scopus 로고    scopus 로고
    • A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
    • Pagnamenta AT, Holt R, Yusuf M, et al. A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. J Neurodev Disord 2011; 3: 124-31.
    • (2011) J Neurodev Disord , vol.3 , pp. 124-131
    • Pagnamenta, A.T.1    Holt, R.2    Yusuf, M.3
  • 24
    • 84872696957 scopus 로고    scopus 로고
    • Using whole-exome sequencing to identify inherited causes of autism
    • Yu TW, Chahrour MH, Coulter ME, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron 2013; 77: 259-73.
    • (2013) Neuron , vol.77 , pp. 259-273
    • Yu, T.W.1    Chahrour, M.H.2    Coulter, M.E.3
  • 25
    • 49949085933 scopus 로고    scopus 로고
    • Large recurrent microdeletions associated with schizophrenia
    • Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008; 455: 232-6.
    • (2008) Nature , vol.455 , pp. 232-236
    • Stefansson, H.1    Rujescu, D.2    Cichon, S.3
  • 26
    • 84860012868 scopus 로고    scopus 로고
    • The genetic variability and commonality of neurodevelopmental disease
    • Coe BP, Girirajan S, Eichler EE. The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet C Semin Med Genet 2012; 160C: 118-29.
    • (2012) Am J Med Genet C Semin Med Genet , vol.160 , pp. 118-129
    • Coe, B.P.1    Girirajan, S.2    Eichler, E.E.3
  • 27
    • 84867172514 scopus 로고    scopus 로고
    • Phenotypic heterogeneity of genomic disorders and rare copy-number variants
    • Girirajan S, Rosenfeld JA, Coe BP, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 2012; 367: 1321-31.
    • (2012) N Engl J Med , vol.367 , pp. 1321-1331
    • Girirajan, S.1    Rosenfeld, J.A.2    Coe, B.P.3
  • 28
    • 76249116215 scopus 로고    scopus 로고
    • A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
    • Walters RG, Jacquemont S, Valsesia A, et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010; 463: 671-5.
    • (2010) Nature , vol.463 , pp. 671-675
    • Walters, R.G.1    Jacquemont, S.2    Valsesia, A.3
  • 29
    • 40749089626 scopus 로고    scopus 로고
    • Structural variation of chromosomes in autism spectrum disorder
    • Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008; 82: 477-88.
    • (2008) Am J Hum Genet , vol.82 , pp. 477-488
    • Marshall, C.R.1    Noor, A.2    Vincent, J.B.3
  • 30
    • 80053920983 scopus 로고    scopus 로고
    • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
    • Jacquemont S, Reymond A, Zufferey F, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011; 478: 97-102.
    • (2011) Nature , vol.478 , pp. 97-102
    • Jacquemont, S.1    Reymond, A.2    Zufferey, F.3
  • 31
    • 77649122250 scopus 로고    scopus 로고
    • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    • Girirajan S, Rosenfeld JA, Cooper GM, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010; 42: 203-9.
    • (2010) Nat Genet , vol.42 , pp. 203-209
    • Girirajan, S.1    Rosenfeld, J.A.2    Cooper, G.M.3
  • 32
    • 80052260252 scopus 로고    scopus 로고
    • A copy number variation morbidity map of developmental delay
    • Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011; 43: 838-46.
    • (2011) Nat Genet , vol.43 , pp. 838-846
    • Cooper, G.M.1    Coe, B.P.2    Girirajan, S.3
  • 33
    • 54049094444 scopus 로고    scopus 로고
    • Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    • Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359: 1685-99.
    • (2008) N Engl J Med , vol.359 , pp. 1685-1699
    • Mefford, H.C.1    Sharp, A.J.2    Baker, C.3
  • 34
    • 56749154242 scopus 로고    scopus 로고
    • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    • Brunetti-Pierri N, Berg JS, Scaglia F, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008; 40: 1466-71.
    • (2008) Nat Genet , vol.40 , pp. 1466-1471
    • Brunetti-Pierri, N.1    Berg, J.S.2    Scaglia, F.3
  • 35
    • 70350774172 scopus 로고    scopus 로고
    • Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
    • Dibbens LM, Mullen S, Helbig I, et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 2009; 18: 3626-31.
    • (2009) Hum Mol Genet , vol.18 , pp. 3626-3631
    • Dibbens, L.M.1    Mullen, S.2    Helbig, I.3
  • 36
    • 77955568656 scopus 로고    scopus 로고
    • Microdeletions of 3q29 confer high risk for schizophrenia
    • Mulle JG, Dodd AF, McGrath JA, et al. Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet 2010; 87: 229-36.
    • (2010) Am J Hum Genet , vol.87 , pp. 229-236
    • Mulle, J.G.1    Dodd, A.F.2    McGrath, J.A.3
  • 37
    • 20544435269 scopus 로고    scopus 로고
    • 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
    • Willatt L, Cox J, Barber J, et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet 2005; 77: 154-60.
    • (2005) Am J Hum Genet , vol.77 , pp. 154-160
    • Willatt, L.1    Cox, J.2    Barber, J.3
  • 38
    • 77149134317 scopus 로고    scopus 로고
    • Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
    • Nagamani SC, Erez A, Shen J, et al. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet 2010; 18: 278-84.
    • (2010) Eur J Hum Genet , vol.18 , pp. 278-284
    • Nagamani, S.C.1    Erez, A.2    Shen, J.3
  • 39
    • 84864335157 scopus 로고    scopus 로고
    • Autism genetics: searching for specificity and convergence
    • Berg JM, Geschwind DH. Autism genetics: searching for specificity and convergence. Genome Biol 2012; 13: 247.
    • (2012) Genome Biol , vol.13 , pp. 247
    • Berg, J.M.1    Geschwind, D.H.2
  • 40
    • 80052389009 scopus 로고    scopus 로고
    • Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders
    • De Rubeis S, Bagni C. Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders. J Neurodev Disord 2011; 3: 257-69.
    • (2011) J Neurodev Disord , vol.3 , pp. 257-269
    • De Rubeis, S.1    Bagni, C.2
  • 41
    • 53849110899 scopus 로고    scopus 로고
    • Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function
    • Bassell GJ, Warren ST. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 2008; 60: 201-14.
    • (2008) Neuron , vol.60 , pp. 201-214
    • Bassell, G.J.1    Warren, S.T.2
  • 42
    • 80052366179 scopus 로고    scopus 로고
    • Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study
    • Ozonoff S, Young GS, Carter A, et al. Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics 2011; 128: e488-95.
    • (2011) Pediatrics , vol.128
    • Ozonoff, S.1    Young, G.S.2    Carter, A.3
  • 43
    • 77952827032 scopus 로고    scopus 로고
    • Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
    • Berkel S, Marshall CR, Weiss B, et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet 2010; 42: 489-91.
    • (2010) Nat Genet , vol.42 , pp. 489-491
    • Berkel, S.1    Marshall, C.R.2    Weiss, B.3
  • 44
    • 51549108502 scopus 로고    scopus 로고
    • The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
    • Napoli I, Mercaldo V, Boyl PP, et al. The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell 2008; 134: 1042-54.
    • (2008) Cell , vol.134 , pp. 1042-1054
    • Napoli, I.1    Mercaldo, V.2    Boyl, P.P.3
  • 45
    • 33750962208 scopus 로고    scopus 로고
    • A genetic variant that disrupts MET transcription is associated with autism
    • Campbell DB, Sutcliffe JS, Ebert PJ, et al. A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci USA 2006; 103: 16834-9.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 16834-16839
    • Campbell, D.B.1    Sutcliffe, J.S.2    Ebert, P.J.3
  • 46
    • 54949144402 scopus 로고    scopus 로고
    • The autistic neuron: troubled translation?
    • Kelleher RJ 3rd, Bear MF. The autistic neuron: troubled translation? Cell 2008; 135: 401-6.
    • (2008) Cell , vol.135 , pp. 401-406
    • Kelleher III, R.J.1    Bear, M.F.2
  • 47
    • 68649093278 scopus 로고    scopus 로고
    • Protein translation in synaptic plasticity: mGluR-LTD, Fragile X
    • Waung MW, Huber KM. Protein translation in synaptic plasticity: mGluR-LTD, Fragile X. Curr Opin Neurobiol 2009; 19: 319-26.
    • (2009) Curr Opin Neurobiol , vol.19 , pp. 319-326
    • Waung, M.W.1    Huber, K.M.2
  • 48
    • 84862659562 scopus 로고    scopus 로고
    • Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities
    • Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol 2012; 4. pii: a009886.
    • (2012) Cold Spring Harb Perspect Biol , vol.4
    • Zoghbi, H.Y.1    Bear, M.F.2
  • 49
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009; 459: 569-73.
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3
  • 50
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    • Sanders SJ, Ercan-Sencicek AG, Hus V, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011; 70: 863-85.
    • (2011) Neuron , vol.70 , pp. 863-885
    • Sanders, S.J.1    Ercan-Sencicek, A.G.2    Hus, V.3
  • 51
    • 46749119818 scopus 로고    scopus 로고
    • Synaptic imbalance, stereotypies, and impaired social interactions in mice with altered neuroligin 2 expression
    • Hines RM, Wu L, Hines DJ, et al. Synaptic imbalance, stereotypies, and impaired social interactions in mice with altered neuroligin 2 expression. J Neurosci 2008; 28: 6055-67.
    • (2008) J Neurosci , vol.28 , pp. 6055-6067
    • Hines, R.M.1    Wu, L.2    Hines, D.J.3
  • 52
    • 0034625250 scopus 로고    scopus 로고
    • Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons
    • Scheiffele P, Fan J, Choih J, Fetter R, Serafini T. Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell 2000; 101: 657-69.
    • (2000) Cell , vol.101 , pp. 657-669
    • Scheiffele, P.1    Fan, J.2    Choih, J.3    Fetter, R.4    Serafini, T.5
  • 53
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak BJ, Vives L, Girirajan S, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012; 485: 246-50.
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1    Vives, L.2    Girirajan, S.3
  • 54
    • 18944370955 scopus 로고    scopus 로고
    • Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT
    • Barnby G, Abbott A, Sykes N, et al. Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. Am J Hum Genet 2005; 76: 950-66.
    • (2005) Am J Hum Genet , vol.76 , pp. 950-966
    • Barnby, G.1    Abbott, A.2    Sykes, N.3
  • 55
    • 47249088331 scopus 로고    scopus 로고
    • Identifying autism loci and genes by tracing recent shared ancestry
    • Morrow EM, Yoo SY, Flavell SW, et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 2008; 321: 218-23.
    • (2008) Science , vol.321 , pp. 218-223
    • Morrow, E.M.1    Yoo, S.Y.2    Flavell, S.W.3
  • 56
    • 57649211993 scopus 로고    scopus 로고
    • Genome-wide analysis of MEF2 transcriptional program reveals synaptic target genes and neuronal activity-dependent polyadenylation site selection
    • Flavell SW, Kim TK, Gray JM, et al. Genome-wide analysis of MEF2 transcriptional program reveals synaptic target genes and neuronal activity-dependent polyadenylation site selection. Neuron 2008; 60: 1022-38.
    • (2008) Neuron , vol.60 , pp. 1022-1038
    • Flavell, S.W.1    Kim, T.K.2    Gray, J.M.3
  • 57
    • 80053540965 scopus 로고    scopus 로고
    • Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
    • Penagarikano O, Abrahams BS, Herman EI, et al. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 2011; 147: 235-46.
    • (2011) Cell , vol.147 , pp. 235-246
    • Penagarikano, O.1    Abrahams, B.S.2    Herman, E.I.3
  • 58
    • 70449686185 scopus 로고    scopus 로고
    • Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
    • Etherton MR, Blaiss CA, Powell CM, Sudhof TC. Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. Proc Natl Acad Sci USA 2009; 106: 17998-8003.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 17998-18003
    • Etherton, M.R.1    Blaiss, C.A.2    Powell, C.M.3    Sudhof, T.C.4
  • 59
    • 79955536349 scopus 로고    scopus 로고
    • Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
    • Peca J, Feliciano C, Ting JT, et al. Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature 2011; 472: 437-42.
    • (2011) Nature , vol.472 , pp. 437-442
    • Peca, J.1    Feliciano, C.2    Ting, J.T.3
  • 60
    • 77954851827 scopus 로고    scopus 로고
    • Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome
    • Olmos-Serrano JL, Paluszkiewicz SM, Martin BS, Kaufmann WE, Corbin JG, Huntsman MM. Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome. J Neurosci 2010; 30: 9929-38.
    • (2010) J Neurosci , vol.30 , pp. 9929-9938
    • Olmos-Serrano, J.L.1    Paluszkiewicz, S.M.2    Martin, B.S.3    Kaufmann, W.E.4    Corbin, J.G.5    Huntsman, M.M.6
  • 61
    • 84860678815 scopus 로고    scopus 로고
    • Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice
    • Yang M, Bozdagi O, Scattoni ML, et al. Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. J Neurosci 2012; 32: 6525-41.
    • (2012) J Neurosci , vol.32 , pp. 6525-6541
    • Yang, M.1    Bozdagi, O.2    Scattoni, M.L.3
  • 62
    • 84866615813 scopus 로고    scopus 로고
    • Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABA(B) receptors with arbaclofen
    • Henderson C, Wijetunge L, Kinoshita MN, et al. Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABA(B) receptors with arbaclofen. Sci Transl Med 2012; 4: 152ra28.
    • (2012) Sci Transl Med , vol.4
    • Henderson, C.1    Wijetunge, L.2    Kinoshita, M.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.