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Volumn 33, Issue 12, 2012, Pages 1635-1638

Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility

Author keywords

Ankyrin 3; Autism spectrum disorder; De novo mutation; Susceptibility; Whole exome sequencing

Indexed keywords

ANKYRIN; ANKYRIN 3; UNCLASSIFIED DRUG;

EID: 84869089377     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22174     Document Type: Article
Times cited : (109)

References (18)
  • 1
    • 84859394070 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorders-Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008
    • Baio J. 2012. Prevalence of autism spectrum disorders-Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ 61:1-19.
    • (2012) MMWR Surveill Summ , vol.61 , pp. 1-19
    • Baio, J.1
  • 2
    • 0033497987 scopus 로고    scopus 로고
    • Physiological roles of axonal ankyrins in survival of premyelinated axons and localization of voltage-gated sodium channels
    • Bennett V, Lambert S. 1999. Physiological roles of axonal ankyrins in survival of premyelinated axons and localization of voltage-gated sodium channels. J Neurocytol 28:303-318.
    • (1999) J Neurocytol , vol.28 , pp. 303-318
    • Bennett, V.1    Lambert, S.2
  • 3
    • 79952313620 scopus 로고    scopus 로고
    • Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
    • Betancur C. 2011. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 1380:42-77.
    • (2011) Brain Res , vol.1380 , pp. 42-77
    • Betancur, C.1
  • 4
    • 0035653670 scopus 로고    scopus 로고
    • Genetics of autism: complex aetiology for a heterogeneous disorder
    • Folstein SE, Rosen-Sheidley B. 2001. Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2:943-955.
    • (2001) Nat Rev Genet , vol.2 , pp. 943-955
    • Folstein, S.E.1    Rosen-Sheidley, B.2
  • 8
    • 78049395303 scopus 로고    scopus 로고
    • Ubiquitination in postsynaptic function and plasticity
    • Mabb AM, Ehlers MD. 2010. Ubiquitination in postsynaptic function and plasticity. Annu Rev Cell Dev Biol 26:179-210.
    • (2010) Annu Rev Cell Dev Biol , vol.26 , pp. 179-210
    • Mabb, A.M.1    Ehlers, M.D.2
  • 10
    • 78549252909 scopus 로고    scopus 로고
    • Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility
    • O'Dushlaine C, Kenny E, Heron E, Donohoe G, Gill M, Morris D, Corvin A. 2011. Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. Mol Psychiatry 16:286-292.
    • (2011) Mol Psychiatry , vol.16 , pp. 286-292
    • O'Dushlaine, C.1    Kenny, E.2    Heron, E.3    Donohoe, G.4    Gill, M.5    Morris, D.6    Corvin, A.7
  • 18
    • 84866084933 scopus 로고    scopus 로고
    • Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing
    • Wu J, Shen E, Shi D, Sun Z, Cai T. 2012. Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing. Genet Med 14.
    • (2012) Genet Med , vol.14
    • Wu, J.1    Shen, E.2    Shi, D.3    Sun, Z.4    Cai, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.