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Volumn 92, Issue 1, 2000, Pages 53-56

X-linked congenital ataxia: A clinical and genetic study

Author keywords

Cerebellar development; Congenital ataxia; X chromosome

Indexed keywords

ARTICLE; ATAXIA; BRAIN DEVELOPMENT; CASE REPORT; CEREBELLUM DISEASE; CHILD; GENETIC LINKAGE; GENOTYPE; HUMAN; MALE; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0034193764     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000501)92:1<53::AID-AJMG9>3.0.CO;2-F     Document Type: Article
Times cited : (45)

References (13)
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    • Christianson AL, Stevenson RE, van der Meyden CH, Pelser J, Theron FW, van Rensburg PL, Chandler M, Schwartz CE 1999. X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. Med Genet 36: 759-766.
    • (1999) Med Genet , vol.36 , pp. 759-766
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  • 4
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    • Goldowitz, D.1    Hamre, K.2
  • 5
    • 0027752256 scopus 로고
    • Autosomal recessive congenital cerebellar atrophy: A clinical and neuropsychological study
    • Guzzetta F., Mercuri E., Bonanno S., Longo M., Spano M. 1993. Autosomal recessive congenital cerebellar atrophy: A clinical and neuropsychological study. Brain Dev 15: 439-445.
    • (1993) Brain Dev , vol.15 , pp. 439-445
    • Guzzetta, F.1    Mercuri, E.2    Bonanno, S.3    Longo, M.4    Spano, M.5
  • 8
    • 0027420511 scopus 로고
    • Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome
    • Imamura S, Tachi N, Oya K. 1993. Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome. Brain Dev 15: 372-376.
    • (1993) Brain Dev , vol.15 , pp. 372-376
    • Imamura, S.1    Tachi, N.2    Oya, K.3
  • 11
    • 0029925102 scopus 로고    scopus 로고
    • A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
    • Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. 1996. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 5: 525-531.
    • (1996) Hum Mol Genet , vol.5 , pp. 525-531
    • Nystuen, A.1    Benke, P.J.2    Merren, J.3    Stone, E.M.4    Sheffield, V.C.5
  • 12
    • 0030861203 scopus 로고    scopus 로고
    • Genetic disorders and cerebellar structural abnormalities in childhood
    • Ramaekers VT, Heimann G, Reul J, Thron A, Jaeken J. 1997. Genetic disorders and cerebellar structural abnormalities in childhood. Brain 120: 1739-1751.
    • (1997) Brain , vol.120 , pp. 1739-1751
    • Ramaekers, V.T.1    Heimann, G.2    Reul, J.3    Thron, A.4    Jaeken, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.