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Volumn 54, Issue 1, 1994, Pages 11-20

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: Evidence for the existence of a fourth locus

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 14Q; CHROMOSOME MAP; FAMILY STUDY; FEMALE; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PRIORITY JOURNAL;

EID: 0028157908     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (123)

References (36)
  • 1
    • 0022669868 scopus 로고
    • Acceleration of nucleic acid hybridization rate by polyethylene glycol
    • Amasino RM (1986) Acceleration of nucleic acid hybridization rate by polyethylene glycol. Anal Biochem 152:304-307
    • (1986) Anal Biochem , vol.152 , pp. 304-307
    • Amasino, R.M.1
  • 6
    • 0026603267 scopus 로고
    • Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications
    • Chou Q, Russel M, Birch DE, Raymond J, Bloch W (1992) Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications. Nucleic Acids Res 20:1717-1723
    • (1992) Nucleic Acids Res , vol.20 , pp. 1717-1723
    • Chou, Q.1    Russel, M.2    Birch, D.E.3    Raymond, J.4    Bloch, W.5
  • 8
    • 84901968187 scopus 로고    scopus 로고
    • Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity
    • in press
    • Dürr A, Chneiweiss H, Khati C, Stevanin C, Cancel G, Feingold J, Agid Y, et al. Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain (in press)
    • Brain
    • Dürr, A.1    Chneiweiss, H.2    Khati, C.3    Stevanin, C.4    Cancel, G.5    Feingold, J.6    Agid, Y.7
  • 9
    • 0026345716 scopus 로고
    • Variation of the GGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, et al (1991) Variation of the GGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.A.2    Pizzuti, A.3    Pieretti, M.4    Sutcliffe, J.S.5    Richards, S.6    Verkerk, A.J.M.H.7
  • 10
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second (Cuban) locus for autosomal dominant cerebellar ataxia (SCA2) to human chromosome 12q23-24.1
    • Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, et al (1993) Chromosomal assignment of the second (Cuban) locus for autosomal dominant cerebellar ataxia (SCA2) to human chromosome 12q23-24.1. Nature Genet 4:295-299
    • (1993) Nature Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twells, R.2    Orozco, G.3    Brice, A.4    Weber, J.5    Heredero, L.6    Scheufler, K.7
  • 11
    • 0019902437 scopus 로고
    • The clinical feature and classification of the late onset autosomal dominant cerebellar ataxias
    • Harding AE (1982) The clinical feature and classification of the late onset autosomal dominant cerebellar ataxias. Brain 105:1-28
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 12
    • 0002358512 scopus 로고
    • Autosomal dominant cerebellar ataxia
    • Harding AE (ed) Churchill Livingstone, Edinburgh
    • _ (1984) Autosomal dominant cerebellar ataxia. In: Harding AE (ed) The hereditary ataxias and related disorders. Churchill Livingstone, Edinburgh, pp 129-164
    • (1984) The Hereditary Ataxias and Related Disorders , pp. 129-164
  • 13
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • Harding AE, Deufel T (eds) Raven, New York
    • _ (1993) Clinical features and classification of inherited ataxias. In: Harding AE, Deufel T (eds) Advances in neurology. Vol 61: Inherited ataxias. Raven, New York, pp 1-14
    • (1993) Advances in Neurology. Vol 61: Inherited Ataxias , vol.61 , pp. 1-14
  • 14
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
    • (1993) Cell , vol.72 , pp. 971-983
  • 15
    • 0017389522 scopus 로고
    • Spinocerebellar ataxias and HLA linkage: Risk predicting by HLA typing
    • Jackson JF, Currier RD, Terasaki PI, Morton NE (1977) Spinocerebellar ataxias and HLA linkage: risk predicting by HLA typing. N Engl J Med 296:1138-1141
    • (1977) N Engl J Med , vol.296 , pp. 1138-1141
    • Jackson, J.F.1    Currier, R.D.2    Terasaki, P.I.3    Morton, N.E.4
  • 16
    • 0026040407 scopus 로고
    • Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded
    • Keats BJB, Pollack MS, McCall A, Wilensky MA, Ward LJ, Lu M, Zoghbi HY (1991) Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded. Am J Hum Genet 49:972-977
    • (1991) Am J Hum Genet , vol.49 , pp. 972-977
    • Keats, B.J.B.1    Pollack, M.S.2    McCall, A.3    Wilensky, M.A.4    Ward, L.J.5    Lu, M.6    Zoghbi, H.Y.7
  • 17
    • 0027158054 scopus 로고
    • Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: Clinical and genetic analysis of ten French families
    • Khati C, Stevanin G, Durr A, Chneiweiss H, Belal S, Seek A, Cann H, et al (1993) Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of ten French families. Neurology 43:1131-1137
    • (1993) Neurology , vol.43 , pp. 1131-1137
    • Khati, C.1    Stevanin, G.2    Durr, A.3    Chneiweiss, H.4    Belal, S.5    Seek, A.6    Cann, H.7
  • 18
  • 19
    • 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
  • 20
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 21
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 22
    • 0027109555 scopus 로고
    • A comprehensive genetic linkage map of the human genome
    • NIH/CEPH Collaborative Mapping Group (1992) A comprehensive genetic linkage map of the human genome. Science 258:67-86
    • (1992) Science , vol.258 , pp. 67-86
  • 25
    • 0025887289 scopus 로고
    • Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p
    • Ranum LPW, Duvick LA, Rich SS, Schut LJ, Litt M, Orr HT (1991) Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p. Am J Hum Genet 49:31-41
    • (1991) Am J Hum Genet , vol.49 , pp. 31-41
    • Ranum, L.P.W.1    Duvick, L.A.2    Rich, S.S.3    Schut, L.J.4    Litt, M.5    Orr, H.T.6
  • 27
    • 0023612410 scopus 로고
    • Spinocerebellar ataxia: Localization of an autosomal dominant locus between two markers on human chromosome 6
    • Rich SS, Wilkie P, Schut L, Vance G, Orr HT (1987) Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6. Am J Hum Genet 41:524-531
    • (1987) Am J Hum Genet , vol.41 , pp. 524-531
    • Rich, S.S.1    Wilkie, P.2    Schut, L.3    Vance, G.4    Orr, H.T.5
  • 30
    • 0027295657 scopus 로고
    • Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: Evidence for the existence of a third locus
    • Stevanin G, Chneiweiss H, Le Guern E, Ravisé N, Dürr A, Penet C, Agid Y, et al (1993) Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus. Hum Mol Genet 2:1483-1485
    • (1993) Hum Mol Genet , vol.2 , pp. 1483-1485
    • Stevanin, G.1    Chneiweiss, H.2    Le Guern, E.3    Ravisé, N.4    Dürr, A.5    Penet, C.6    Agid, Y.7
  • 35
    • 0025871615 scopus 로고
    • The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds
    • Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, Lulli P, et al (1991) The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet 49:23-30
    • (1991) Am J Hum Genet , vol.49 , pp. 23-30
    • Zoghbi, H.Y.1    Jodice, C.2    Sandkuijl, L.A.3    Kwiatkowski Jr., T.J.4    McCall, A.E.5    Huntoon, S.A.6    Lulli, P.7
  • 36
    • 0024540966 scopus 로고
    • Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis
    • Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL (1989) Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am J Hum Genet 44:255-263
    • (1989) Am J Hum Genet , vol.44 , pp. 255-263
    • Zoghbi, H.Y.1    Sandkuyl, L.A.2    Ott, J.3    Daiger, S.P.4    Pollack, M.5    O'Brien, W.E.6    Beaudet, A.L.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.