메뉴 건너뛰기




Volumn 65, Issue 2, 1999, Pages 420-426

Autosomal dominant cerebellar ataxia type III: Linkage in a large british family to a 7.6-cM region on chromosome 15.q14-21.3

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 11; CHROMOSOME 15Q; CHROMOSOME 22; CLINICAL ARTICLE; FEMALE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; SYNDROME DELINEATION; UNITED KINGDOM;

EID: 0033358555     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302495     Document Type: Article
Times cited : (127)

References (26)
  • 2
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 3
    • 0029792130 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
    • Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, et al (1996) Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 59:392-399
    • (1996) Am J Hum Genet , vol.59 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3    Galster, B.4    Otterud, B.5    Leppert, M.F.6    Kaplan, C.7
  • 4
    • 0030699138 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6: Frequency of the mutation and genotype-phenotype correlations
    • Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM (1997) Spinocerebellar ataxia type 6: frequency of the mutation and genotype-phenotype correlations. Neurology 49:1247-1251
    • (1997) Neurology , vol.49 , pp. 1247-1251
    • Geschwind, D.H.1    Perlman, S.2    Figueroa, K.P.3    Karrim, J.4    Baloh, R.W.5    Pulst, S.M.6
  • 5
    • 0004799163 scopus 로고    scopus 로고
    • Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and de novo mutation
    • Giunti P, Stevanin G, Worth PF, David G, Brice A, Wood NW (1999) Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Am J Hum Genet 64:1594-1603
    • (1999) Am J Hum Genet , vol.64 , pp. 1594-1603
    • Giunti, P.1    Stevanin, G.2    Worth, P.F.3    David, G.4    Brice, A.5    Wood, N.W.6
  • 7
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1-14
    • (1993) Adv Neurol , vol.61 , pp. 1-14
    • Harding, A.E.1
  • 8
    • 0019902437 scopus 로고
    • The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: A study of 11 families, including descendants of the Drew family of Walworth
    • -(1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of the Drew family of Walworth. Brain 105:1-28
    • (1982) Brain , vol.105 , pp. 1-28
  • 9
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Webert C, et al (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285-291
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3    Devys, D.4    Trottier, Y.5    Garnier, J.M.6    Webert, C.7
  • 11
    • 0021344005 scopus 로고
    • Easy calculations of LOD scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM (1984) Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36:460-465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 12
    • 0030679611 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6: Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
    • Matsumura R, Futamura N, Fujimoto Y, Yanagimoto S, Horikawa H, Suzumura A, Takayanagi T (1997) Spinocerebellar ataxia type 6: molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 49:1238-1243
    • (1997) Neurology , vol.49 , pp. 1238-1243
    • Matsumura, R.1    Futamura, N.2    Fujimoto, Y.3    Yanagimoto, S.4    Horikawa, H.5    Suzumura, A.6    Takayanagi, T.7
  • 15
    • 0039513062 scopus 로고
    • Computer-simulation methods in human linkage analysis
    • Ott J (1989) Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 86:4175-4178
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 4175-4178
    • Ott, J.1
  • 17
    • 0028020605 scopus 로고
    • 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 (1994) Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 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
  • 19
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique
    • Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, et al (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique. Nat Genet 14:277-284
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3    Sato, T.4    Oyake, M.5    Sasaki, H.6    Wakisaka, A.7
  • 20
    • 0027256423 scopus 로고
    • Direct detection of novel expanded trinucleotide repeats in the human genome
    • Schalling M, Hudson TJ, Buetow KH, Housman DE (1993) Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 4:135-139
    • (1993) Nat Genet , vol.4 , pp. 135-139
    • Schalling, M.1    Hudson, T.J.2    Buetow, K.H.3    Housman, D.E.4
  • 23
    • 0025008255 scopus 로고
    • Measuring the inflation of the LOD score due to its maximization over model parameter values in human linkage analysis
    • Weeks DE, Lehner T, Squires-Wheeler E, Kaufmann C, Ott J (1990) Measuring the inflation of the LOD score due to its maximization over model parameter values in human linkage analysis. Genet Epidemiol 7:237-243
    • (1990) Genet Epidemiol , vol.7 , pp. 237-243
    • Weeks, D.E.1    Lehner, T.2    Squires-Wheeler, E.3    Kaufmann, C.4    Ott, J.5
  • 24
    • 0032539787 scopus 로고    scopus 로고
    • SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia
    • Yabe I, Sasaki H, Matsuura T, Takada A, Wakisaka A, Suzuki Y, Fukazawa T, et al (1998) SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. J Neurol Sci 156:89-95
    • (1998) J Neurol Sci , vol.156 , pp. 89-95
    • Yabe, I.1    Sasaki, H.2    Matsuura, T.3    Takada, A.4    Wakisaka, A.5    Suzuki, Y.6    Fukazawa, T.7
  • 25
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A voltage-dependent calcium channel
    • Zhuchenko O, Baily J, Bonnene P, Ashizawa T, Stockton D, Amos C, Dobyns WB, et al (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A voltage-dependent calcium channel. Nat Genet 15:62-69
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Baily, J.2    Bonnene, P.3    Ashizawa, T.4    Stockton, D.5    Amos, C.6    Dobyns, W.B.7
  • 26
    • 0033069723 scopus 로고    scopus 로고
    • Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22
    • Zu L, Figueroa KP, Grewal R, Pulst S-M (1999) Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet 64:594-599
    • (1999) Am J Hum Genet , vol.64 , pp. 594-599
    • Zu, L.1    Figueroa, K.P.2    Grewal, R.3    Pulst, S.-M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.