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Volumn 65, Issue 9, 2005, Pages 1346-1347

X-linked oligophrenic vermian dysgenesis: Syndromic vs non-syndromic X-linked mental retardation?

Author keywords

[No Author keywords available]

Indexed keywords

RHO GUANINE NUCLEOTIDE BINDING PROTEIN;

EID: 27644576875     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000187915.51781.b8     Document Type: Editorial
Times cited : (5)

References (10)
  • 1
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    • Stromme P, Mangelsdorf ME, Shaw MA, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002;30:441-445.
    • (2002) Nat Genet , vol.30 , pp. 441-445
    • Stromme, P.1    Mangelsdorf, M.E.2    Shaw, M.A.3
  • 2
    • 0037781681 scopus 로고    scopus 로고
    • ARX mutations in X-linked lissencephaly with abnormal genitalia
    • Uyanik G, Aigner L, Martin P, et al. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology 2003;61:232-235.
    • (2003) Neurology , vol.61 , pp. 232-235
    • Uyanik, G.1    Aigner, L.2    Martin, P.3
  • 3
    • 0037384953 scopus 로고    scopus 로고
    • X-linked mental retardation and epilepsy: Pathogenetic significance of ARX mutations
    • Hirose S, Mitsudome A. X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. Brain Dev 2003;25:161-165.
    • (2003) Brain Dev , vol.25 , pp. 161-165
    • Hirose, S.1    Mitsudome, A.2
  • 5
    • 27644521284 scopus 로고    scopus 로고
    • Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
    • Zanni G, Saillour Y, Nagara M, et al. Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology 2005;65:1364-1369.
    • (2005) Neurology , vol.65 , pp. 1364-1369
    • Zanni, G.1    Saillour, Y.2    Nagara, M.3
  • 6
    • 0032580161 scopus 로고    scopus 로고
    • Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    • Billuart P, Bienvenu T, Ronce N, et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 1998;392:923-926.
    • (1998) Nature , vol.392 , pp. 923-926
    • Billuart, P.1    Bienvenu, T.2    Ronce, N.3
  • 7
    • 0032796655 scopus 로고    scopus 로고
    • Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia
    • Tentler D, Gustavsson P, Leisti J, et al. Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. Eur J Hum Genet 1999;7:541-548.
    • (1999) Eur J Hum Genet , vol.7 , pp. 541-548
    • Tentler, D.1    Gustavsson, P.2    Leisti, J.3
  • 8
    • 0026057771 scopus 로고
    • New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures
    • Pettigrew AL, Jackson LG, Ledbetter DH. New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. Am J Med Genet 1991;38:200-207.
    • (1991) Am J Med Genet , vol.38 , pp. 200-207
    • Pettigrew, A.L.1    Jackson, L.G.2    Ledbetter, D.H.3
  • 9
    • 0032860089 scopus 로고    scopus 로고
    • X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27
    • Christianson AL, Stevenson RE, van der Meyden CH, et al. X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. J Med Genet 1999;36:759-766.
    • (1999) J Med Genet , vol.36 , pp. 759-766
    • Christianson, A.L.1    Stevenson, R.E.2    Van Der Meyden, C.H.3
  • 10
    • 0036543312 scopus 로고    scopus 로고
    • Rho proteins, mental retardation and the cellular basis of cognition
    • Ramakers GJ. Rho proteins, mental retardation and the cellular basis of cognition. Trends Neurosci 2002;25:191-199.
    • (2002) Trends Neurosci , vol.25 , pp. 191-199
    • Ramakers, G.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.