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Volumn 62, Issue 2, 2004, Pages 327-329

Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; GENE LOCUS; GERMANY; HUMAN; NYSTAGMUS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SPINOCEREBELLAR ATAXIA TYPE 5; SPINOCEREBELLAR DEGENERATION;

EID: 0842347338     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000103293.63340.C1     Document Type: Article
Times cited : (64)

References (7)
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    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
    • Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994;8:280-284.
    • (1994) Nat Genet , vol.8 , pp. 280-284
    • Ranum, L.P.1    Schut, L.J.2    Lundgren, J.K.3    Orr, H.T.4    Livingston, D.M.5
  • 2
    • 0032834350 scopus 로고    scopus 로고
    • Clinical and MRI findings in spinocerebellar ataxia type 5
    • Stevanin G, Herman A, Brice A, Dürr A. Clinical and MRI findings in spinocerebellar ataxia type 5. Neurology 1999;53:1355-1357.
    • (1999) Neurology , vol.53 , pp. 1355-1357
    • Stevanin, G.1    Herman, A.2    Brice, A.3    Dürr, A.4
  • 3
    • 0029945706 scopus 로고    scopus 로고
    • Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker sharing statistics
    • Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker sharing statistics. Am J Hum Genet 1996;58:1323-1337.
    • (1996) Am J Hum Genet , vol.58 , pp. 1323-1337
    • Sobel, E.1    Lange, K.2
  • 4
    • 18744437997 scopus 로고    scopus 로고
    • New insights in the molecular genetics and pathophysiology of hereditary ataxias
    • Bürk K, Klockgether T, Dichgans J. New insights in the molecular genetics and pathophysiology of hereditary ataxias. Nervenarzt 1999;70:491-496.
    • (1999) Nervenarzt , vol.70 , pp. 491-496
    • Bürk, K.1    Klockgether, T.2    Dichgans, J.3
  • 5
    • 0345199753 scopus 로고
    • High-resolution genetic and physical mapping of spinocerebellar ataxia type 5 (SCA5) on 11q13
    • Koob MD, Lundgren JK, Nowak NJ, et al. High-resolution genetic and physical mapping of spinocerebellar ataxia type 5 (SCA5) on 11q13. Am J Hum Genet 1995;57(suppl):A196.
    • (1995) Am J Hum Genet , vol.57 , Issue.SUPPL.
    • Koob, M.D.1    Lundgren, J.K.2    Nowak, N.J.3
  • 6
    • 0032727249 scopus 로고    scopus 로고
    • Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
    • Holmes SE, O'Hearn EE, McInnis MG, et al. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 1999;23:391-392.
    • (1999) Nat Genet , vol.23 , pp. 391-392
    • Holmes, S.E.1    O'Hearn, E.E.2    McInnis, M.G.3
  • 7
    • 0033597220 scopus 로고    scopus 로고
    • Cloning of a new mouse two-P domain channel subunit and a human homologue with a unique pore structure
    • Salinas M, Reyes R, Lesage F, et al. Cloning of a new mouse two-P domain channel subunit and a human homologue with a unique pore structure. J Biol Chem 1999;274:11751-11760.
    • (1999) J Biol Chem , vol.274 , pp. 11751-11760
    • Salinas, M.1    Reyes, R.2    Lesage, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.