메뉴 건너뛰기




Volumn 19, Issue , 1996, Pages 79-107

Trinucleotide repeats in neurogenetic disorders

Author keywords

expanded repeats; genetic instability; Huntington's disease; neurodegeneration; polyglutamine repeats

Indexed keywords

TRINUCLEOTIDE;

EID: 0029968460     PISSN: 0147006X     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.ne.19.030196.000455     Document Type: Review
Times cited : (303)

References (143)
  • 1
    • 0027300283 scopus 로고
    • Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain
    • Abitbol M, Menini C, Delezoide A-L, Rhyner T, Vekemans M, et al. 1993. Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain. Nat. Genet. 4:147-53
    • (1993) Nat. Genet. , vol.4 , pp. 147-153
    • Abitbol, M.1    Menini, C.2    Delezoide, A.-L.3    Rhyner, T.4    Vekemans, M.5
  • 2
    • 0027176364 scopus 로고
    • The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
    • Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilman J, et al. 1993. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat. Genet. 4:398-403
    • (1993) Nat. Genet. , vol.4 , pp. 398-403
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3    Telenius, H.4    Theilman, J.5
  • 3
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, et al. 1993. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet. 2: 1397-400
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1397-1400
    • Anvret, M.1    Ahlberg, G.2    Grandell, U.3    Hedberg, B.4    Johnson, K.5
  • 4
    • 0026802316 scopus 로고
    • Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat
    • Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu H-Y, et al. 1992. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology 42:1877-83
    • (1992) Neurology , vol.42 , pp. 1877-1883
    • Ashizawa, T.1    Dubel, J.R.2    Dunne, P.W.3    Dunne, C.J.4    Fu, H.-Y.5
  • 5
    • 0027265596 scopus 로고
    • Human and murine FMR-1: Alternative splicing and translational initiation downstream of the CGG-repeat
    • Ashley CT, Sutcliffe JS, Kunst CB, Leiner HA, Eichler EE, et al. 1993a. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat. Genet. 4:244-51
    • (1993) Nat. Genet. , vol.4 , pp. 244-251
    • Ashley, C.T.1    Sutcliffe, J.S.2    Kunst, C.B.3    Leiner, H.A.4    Eichler, E.E.5
  • 6
    • 0027377580 scopus 로고
    • FMR-1 protein: Conserved RNP family domains and selective RNA binding
    • Ashley CT, Wilkinson KD, Reines D, Warren ST. 1993b. FMR-1 protein: conserved RNP family domains and selective RNA binding. Science 262:563-66
    • (1993) Science , vol.262 , pp. 563-566
    • Ashley, C.T.1    Wilkinson, K.D.2    Reines, D.3    Warren, S.T.4
  • 7
    • 0026567370 scopus 로고
    • Cloning of the essential myotonic dystrophy region and mapping of the putative defect
    • Aslandis C, Jansen G, Amemiya C, Shutler G, Mahadevan M, et al. 1992. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355: 548-51
    • (1992) Nature , vol.355 , pp. 548-551
    • Aslandis, C.1    Jansen, G.2    Amemiya, C.3    Shutler, G.4    Mahadevan, M.5
  • 8
    • 0028017992 scopus 로고
    • Identification and characterization of the gene causing type 1 spinocerebellar ataxia
    • Banfi S, Servadio A, Chung M, Kwiatkowski TJ, McCall AE, et al. 1994. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat. Genet. 7:513-20
    • (1994) Nat. Genet. , vol.7 , pp. 513-520
    • Banfi, S.1    Servadio, A.2    Chung, M.3    Kwiatkowski, T.J.4    McCall, A.E.5
  • 9
    • 0028407381 scopus 로고
    • Trinucleotide repeat expansions and human genetic disease
    • Bates G, Lehrach H. 1994. Trinucleotide repeat expansions and human genetic disease. Bio-Essays 16:277-84
    • (1994) Bio-Essays , vol.16 , pp. 277-284
    • Bates, G.1    Lehrach, H.2
  • 10
    • 0026584524 scopus 로고
    • Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative diseases?
    • Beal MF. 1992. Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative diseases? Neurology 31:119-30
    • (1992) Neurology , vol.31 , pp. 119-130
    • Beal, M.F.1
  • 11
    • 0027433553 scopus 로고
    • Neurochemical and histologic characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid
    • Beal MF, Brouillet E, Jenkins BG, Ferrante RJ, Kowall NW, et al. 1993. Neurochemical and histologic characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid. J. Neurosci. 13: 4181-92
    • (1993) J. Neurosci. , vol.13 , pp. 4181-4192
    • Beal, M.F.1    Brouillet, E.2    Jenkins, B.G.3    Ferrante, R.J.4    Kowall, N.W.5
  • 12
    • 0025970882 scopus 로고
    • Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
    • Bell MV, Hirst MC, Nakahori Y, MacKinnon RN, Roche A, et al. 1991. Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 64:861-66
    • (1991) Cell , vol.64 , pp. 861-866
    • Bell, M.V.1    Hirst, M.C.2    Nakahori, Y.3    MacKinnon, R.N.4    Roche, A.5
  • 14
    • 0028878844 scopus 로고
    • Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice
    • Bingham PM, Scott MO, Wang S, McPhaul MJ, Wilson EM, et al. 1995. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nat. Genet. 9:191-96
    • (1995) Nat. Genet. , vol.9 , pp. 191-196
    • Bingham, P.M.1    Scott, M.O.2    Wang, S.3    McPhaul, M.J.4    Wilson, E.M.5
  • 15
    • 0028031125 scopus 로고
    • Guidelines for the molecular genetics predictive test in Huntington's disease
    • Broholm J, Cassiman J-J, Craufurd D, Falek A, Farmer-Little C, et al. 1994. Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 44:1533-36
    • (1994) Neurology , vol.44 , pp. 1533-1536
    • Broholm, J.1    Cassiman, J.-J.2    Craufurd, D.3    Falek, A.4    Farmer-Little, C.5
  • 16
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, et al. 1992. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799-808
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3    Buckler, A.J.4    Church, D.5
  • 17
    • 0026667107 scopus 로고
    • The N-terminal 96 residues of MCMI, a regulator of cell type-specific genes in Saccharomyces cerevisiae, are sufficient for DNA binding, transcription activation, and interaction with alpha 1
    • Bruhn L, Hwang-Shum JJ, Sprague GF. 1992. The N-terminal 96 residues of MCMI, a regulator of cell type-specific genes in Saccharomyces cerevisiae, are sufficient for DNA binding, transcription activation, and interaction with alpha 1. Mol. Cell. Biol. 12: 3563-72
    • (1992) Mol. Cell. Biol. , vol.12 , pp. 3563-3572
    • Bruhn, L.1    Hwang-Shum, J.J.2    Sprague, G.F.3
  • 18
    • 0028169738 scopus 로고
    • The Haw River syndrome: Dentatorubral-pallidoluysian atrophy (DRPLA) in an African-American family
    • Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, et al. 1994. The Haw River syndrome: dentatorubral-pallidoluysian atrophy (DRPLA) in an African-American family. Nat. Genet. 7:521-24
    • (1994) Nat. Genet. , vol.7 , pp. 521-524
    • Burke, J.R.1    Wingfield, M.S.2    Lewis, K.E.3    Roses, A.D.4    Lee, J.E.5
  • 20
    • 0026584805 scopus 로고
    • Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
    • Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, et al. 1992. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355: 547-48
    • (1992) Nature , vol.355 , pp. 547-548
    • Buxton, J.1    Shelbourne, P.2    Davies, J.3    Jones, C.4    Van Tongeren, T.5
  • 21
    • 0028033594 scopus 로고
    • The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function
    • Chamberlain NL, Driver ED, Miesfeld RL. 1994. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucl. Acids Res. 22:3181-86
    • (1994) Nucl. Acids Res. , vol.22 , pp. 3181-3186
    • Chamberlain, N.L.1    Driver, E.D.2    Miesfeld, R.L.3
  • 22
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
    • Chung M, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, et al. 1993. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat. Genet. 5:254-58
    • (1993) Nat. Genet. , vol.5 , pp. 254-258
    • Chung, M.1    Ranum, L.P.W.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5
  • 23
    • 0024293409 scopus 로고
    • CYP1 (HAP1) regulator of oxygen-dependent gene expression in yeast
    • Creusot F, Verdiere J, Gaisne M, Slonimski PP. 1988. CYP1 (HAP1) regulator of oxygen-dependent gene expression in yeast. J. Mol. Biol. 204:263-76
    • (1988) J. Mol. Biol. , vol.204 , pp. 263-276
    • Creusot, F.1    Verdiere, J.2    Gaisne, M.3    Slonimski, P.P.4
  • 24
  • 25
    • 0027176361 scopus 로고
    • The FMR-1 protein is cytoplasmic, most abundant in neurons, and appears normal in carriers of the fragile X premutation
    • Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel J-L. 1993. The FMR-1 protein is cytoplasmic, most abundant in neurons, and appears normal in carriers of the fragile X premutation. Nat. Genet. 4:335-40
    • (1993) Nat. Genet. , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3    Bellocq, J.P.4    Mandel, J.-L.5
  • 27
    • 0028989602 scopus 로고
    • Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons
    • DiFiglia M, Sapp E, Chase K, Schwarz C, Meloni A, et al. 1995. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 14: 1075-81
    • (1995) Neuron , vol.14 , pp. 1075-1081
    • DiFiglia, M.1    Sapp, E.2    Chase, K.3    Schwarz, C.4    Meloni, A.5
  • 28
    • 0026456689 scopus 로고
    • Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene
    • Doyu M, Sobue G, Mukai E, Kachi T, Yasuda T, et al. 1992. Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann. Neurol. 32:707-10
    • (1992) Ann. Neurol. , vol.32 , pp. 707-710
    • Doyu, M.1    Sobue, G.2    Mukai, E.3    Kachi, T.4    Yasuda, T.5
  • 29
    • 0023155189 scopus 로고
    • DNA sequences homologous to the Drosophila opa repeat are present in murine mRNAs that are differentially expressed in fetuses and adult tissues
    • Duboule D, Haenlin M, Galliot B, Mohier E. 1987. DNA sequences homologous to the Drosophila opa repeat are present in murine mRNAs that are differentially expressed in fetuses and adult tissues. Mol. Cell. Biol. 7: 2003-6
    • (1987) Mol. Cell. Biol. , vol.7 , pp. 2003-2006
    • Duboule, D.1    Haenlin, M.2    Galliot, B.3    Mohier, E.4
  • 30
    • 0028104051 scopus 로고
    • Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition
    • Dunne PW, Walch ET, Epstein HF. 1994. Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition. Biochemistry 33:10809-14
    • (1994) Biochemistry , vol.33 , pp. 10809-10814
    • Dunne, P.W.1    Walch, E.T.2    Epstein, H.F.3
  • 31
    • 0028246435 scopus 로고
    • Fmr1 knockout mice: A model to study fragile X mental retardation
    • Dutch-Belgian Fragile X Consortium. 1994. Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 78:23-33
    • (1994) Cell , vol.78 , pp. 23-33
  • 32
    • 0027240431 scopus 로고
    • Trinucleotide repeat instability and age of onset in Huntington's disease
    • Duyao MP, Ambrose C, Myers R, Novelletto A, Persichetti F, et al. 1993. Trinucleotide repeat instability and age of onset in Huntington's disease. Nat. Genet. 4:387-92
    • (1993) Nat. Genet. , vol.4 , pp. 387-392
    • Duyao, M.P.1    Ambrose, C.2    Myers, R.3    Novelletto, A.4    Persichetti, F.5
  • 33
    • 0028168645 scopus 로고
    • Length of uninterrupted CGG repeats determines instability in the FMR1 gene
    • Eichler EE, Holden JJ, Popovich BW, Reiss AL, Snow K, et al. 1994. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat. Genet. 8:88-94
    • (1994) Nat. Genet. , vol.8 , pp. 88-94
    • Eichler, E.E.1    Holden, J.J.2    Popovich, B.W.3    Reiss, A.L.4    Snow, K.5
  • 34
    • 0028989063 scopus 로고
    • Translational suppression by trinucleotide repeat expansion at FMR1
    • Feng Y, Zhiang F, Lokey LK, Chastain JL, Lakkis L, et al. 1995. Translational suppression by trinucleotide repeat expansion at FMR1. Science 268:731-34
    • (1995) Science , vol.268 , pp. 731-734
    • Feng, Y.1    Zhiang, F.2    Lokey, L.K.3    Chastain, J.L.4    Lakkis, L.5
  • 35
    • 0027396021 scopus 로고
    • Excitotoxic lesions in primates as a model for Huntington's disease: Histopathologic and neurochemical characterization
    • Ferrante RJ, Kowall NW, Cipolloni PB, Storey E, Beal MF, et al. 1993. Excitotoxic lesions in primates as a model for Huntington's disease: histopathologic and neurochemical characterization. Exp. Neurol. 119:46-71
    • (1993) Exp. Neurol. , vol.119 , pp. 46-71
    • Ferrante, R.J.1    Kowall, N.W.2    Cipolloni, P.B.3    Storey, E.4    Beal, M.F.5
  • 36
    • 0025985496 scopus 로고
    • A candidate gene for X-linked spinal muscular atrophy
    • Fischbeck KH, Souders D, La Spada AR. 1991. A candidate gene for X-linked spinal muscular atrophy. Adv. Neurol. 56:209-13
    • (1991) Adv. Neurol. , vol.56 , pp. 209-213
    • Fischbeck, K.H.1    Souders, D.2    La Spada, A.R.3
  • 37
    • 0027246344 scopus 로고
    • Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy
    • Fu YH, Friedman DL, Richards S, Pearlman JA, Gibbs RA, et al. 1993. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260:235-38
    • (1993) Science , vol.260 , pp. 235-238
    • Fu, Y.H.1    Friedman, D.L.2    Richards, S.3    Pearlman, J.A.4    Gibbs, R.A.5
  • 38
    • 0026345716 scopus 로고
    • Variation of the CGG 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, et al. 1991. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-58
    • (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
  • 39
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, et al. 1992. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256-58
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.H.1    Pizzuti, A.2    Fenwick, R.G.3    King, J.4    Rajnarayan, S.5
  • 41
    • 23444458415 scopus 로고
    • Transcriptional activation modulated by homopolymeric glutamine and proline stretches
    • Gerber H-P, Seipel K, Georgiev O, Hofferer M, Hug M, et al. 1994. Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science 263: 808-11
    • (1994) Science , vol.263 , pp. 808-811
    • Gerber, H.-P.1    Seipel, K.2    Georgiev, O.3    Hofferer, M.4    Hug, M.5
  • 42
    • 0027359989 scopus 로고
    • Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects
    • Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, et al. 1993. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat. Genet. 5:174-79
    • (1993) Nat. Genet. , vol.5 , pp. 174-179
    • Goldberg, Y.P.1    Kremer, B.2    Andrew, S.E.3    Theilmann, J.4    Graham, R.K.5
  • 44
    • 0027507667 scopus 로고
    • Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism
    • Green H. 1993. Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 74:955-56
    • (1993) Cell , vol.74 , pp. 955-956
    • Green, H.1
  • 47
    • 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
  • 49
    • 0026601924 scopus 로고
    • Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
    • Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, et al. 1992. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355: 545-46
    • (1992) Nature , vol.355 , pp. 545-546
    • Harley, H.G.1    Brook, J.D.2    Rundle, S.A.3    Crow, S.4    Reardon, W.5
  • 50
    • 0003740896 scopus 로고
    • London/Philadelphia: Saunders. 2nd ed.
    • Harper PS. 1989. Myotonic Dystrophy. London/Philadelphia: Saunders. 2nd ed.
    • (1989) Myotonic Dystrophy
    • Harper, P.S.1
  • 52
    • 0028095036 scopus 로고
    • The neurogenetics genie: Testing for the Huntington's disease mutation
    • Hersch S, Jones R, Koroshetz W, Quaid K. 1994. The neurogenetics genie: testing for the Huntington's disease mutation. Neurology 44:1369-73
    • (1994) Neurology , vol.44 , pp. 1369-1373
    • Hersch, S.1    Jones, R.2    Koroshetz, W.3    Quaid, K.4
  • 55
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleolide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group. 1993. A novel gene containing a trinucleolide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-83
    • (1993) Cell , vol.72 , pp. 971-983
  • 56
    • 0026621091 scopus 로고
    • Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy
    • Igarashi S, Tanno Y, Onodera O, Yamazaki M, Sato S, et al. 1992. Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology 42:2300-2
    • (1992) Neurology , vol.42 , pp. 2300-2302
    • Igarashi, S.1    Tanno, Y.2    Onodera, O.3    Yamazaki, M.4    Sato, S.5
  • 58
    • 0025370531 scopus 로고
    • Cloning of a transcriptionally active human TATA binding factor
    • Kao CC, Lieberman PM, Schmidt MC, Zhou Q, Pei R, et al. 1990. Cloning of a transcriptionally active human TATA binding factor. Science 248:1646-50
    • (1990) Science , vol.248 , pp. 1646-1650
    • Kao, C.C.1    Lieberman, P.M.2    Schmidt, M.C.3    Zhou, Q.4    Pei, R.5
  • 59
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, et al. 1994. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8:221-28
    • (1994) Nat. Genet. , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3    Aizawa, M.4    Inoue, M.5
  • 60
    • 0014310582 scopus 로고
    • Progressive proximal spinal and bulbar muscular atrophy of late onset: A sex-linked recessive trait
    • Kennedy WR, Alter M, Sung JH. 1968. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 18:671-80
    • (1968) Neurology , vol.18 , pp. 671-680
    • Kennedy, W.R.1    Alter, M.2    Sung, J.H.3
  • 61
    • 0027203684 scopus 로고
    • Trinucleolide repeat expansion and hypermethylation of a CpG island in FRAXE mental retardation
    • Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, et al. 1993. Trinucleolide repeat expansion and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127-34
    • (1993) Cell , vol.74 , pp. 127-134
    • Knight, S.J.L.1    Flannery, A.V.2    Hirst, M.C.3    Campbell, L.4    Christodoulou, Z.5
  • 62
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi I, Onodera O, Tanaka H, Igarishi S, et al. 1994. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet. 6:9-13
    • (1994) Nat. Genet. , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, I.2    Onodera, O.3    Tanaka, H.4    Igarishi, S.5
  • 63
    • 0028815025 scopus 로고
    • DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
    • Komure O, Sano A, Nishino N, Yamaguchi N, Ueno S, et al. 1995. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45:143-49
    • (1995) Neurology , vol.45 , pp. 143-149
    • Komure, O.1    Sano, A.2    Nishino, N.3    Yamaguchi, N.4    Ueno, S.5
  • 65
    • 0028316870 scopus 로고
    • A worldwide study of the Huntington's disease mutation: The sensitivity and specificity of measuring CAG repeats
    • Kremer B, Goldberg P, Andrew SE, Theilman J, Telenius H, et al. 1994. A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. New Engl. J. Med. 330:1401-6
    • (1994) New Engl. J. Med. , vol.330 , pp. 1401-1406
    • Kremer, B.1    Goldberg, P.2    Andrew, S.E.3    Theilman, J.4    Telenius, H.5
  • 67
    • 9044233958 scopus 로고
    • Triplet repeat mutations: An important etiology of genetic disease
    • Kuhl D, Pizzuti A, Caskey CT. 1993. Triplet repeat mutations: an important etiology of genetic disease. Curr. Opin. Neurol. 13:55-85
    • (1993) Curr. Opin. Neurol. , vol.13 , pp. 55-85
    • Kuhl, D.1    Pizzuti, A.2    Caskey, C.T.3
  • 68
    • 0028080406 scopus 로고
    • Trinucleotide repeat expansion in neurological disease
    • LaSpada AR, Paulson HL, Fischbeck KH. 1994. Trinucleotide repeat expansion in neurological disease. Ann. Neurol. 36:814-22
    • (1994) Ann. Neurol. , vol.36 , pp. 814-822
    • LaSpada, A.R.1    Paulson, H.L.2    Fischbeck, K.H.3
  • 69
    • 0027023516 scopus 로고
    • Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Roling D, Harding AE, Warner CL, Spiegel R, et al. 1992. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat. Genet. 2:301-4
    • (1992) Nat. Genet. , vol.2 , pp. 301-304
    • La Spada, A.R.1    Roling, D.2    Harding, A.E.3    Warner, C.L.4    Spiegel, R.5
  • 70
  • 71
    • 0027484673 scopus 로고
    • Huntington's disease gene (ITI5) is expressed widely in human and rat tissues
    • Li SH, Schilling G, Young WS, Li X-J, Margolis RL, et al. 1993. Huntington's disease gene (ITI5) is expressed widely in human and rat tissues. Neuron 11:985-93
    • (1993) Neuron , vol.11 , pp. 985-993
    • Li, S.H.1    Schilling, G.2    Young, W.S.3    Li, X.-J.4    Margolis, R.L.5
  • 72
    • 0027363951 scopus 로고
    • Gametic but not somatic instability of CAG repeat length in Huntington's disease
    • MacDonald ME, Barnes G, Srinidi J, Duyao MP, Ambrose CM, et al. 1993. Gametic but not somatic instability of CAG repeat length in Huntington's disease. J. Med. Genet. 30: 982-86
    • (1993) J. Med. Genet. , vol.30 , pp. 982-986
    • MacDonald, M.E.1    Barnes, G.2    Srinidi, J.3    Duyao, M.P.4    Ambrose, C.M.5
  • 73
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, et al. 1992. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-55
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3    Shutler, G.4    Amemiya, C.5
  • 74
    • 0028146646 scopus 로고
    • Trinucleotide diseases on the rise
    • Mandel J-L. 1994. Trinucleotide diseases on the rise. Nat. Genet. 7:453-55
    • (1994) Nat. Genet. , vol.7 , pp. 453-455
    • Mandel, J.-L.1
  • 75
    • 0027716371 scopus 로고
    • Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias
    • Matilla T, Volpini V, Genis D, Rosell J, Corral J, et al. 1993. Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum. Mol. Genet. 2: 2123-28
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 2123-2128
    • Matilla, T.1    Volpini, V.2    Genis, D.3    Rosell, J.4    Corral, J.5
  • 76
    • 0027486670 scopus 로고
    • Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome
    • McConkie-Rosell A, Lachiewicz AM, Spiridigliozzi GA, Tarleton J, Schoenwald S, et al. 1993. Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am. J. Hum. Genet. 53:800-9
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 800-809
    • McConkie-Rosell, A.1    Lachiewicz, A.M.2    Spiridigliozzi, G.A.3    Tarleton, J.4    Schoenwald, S.5
  • 77
    • 0027366138 scopus 로고
    • Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy
    • Mhatre AN, Trifiro MA, Kaufman M, Kazemi-Esfarjani P, Figlewicz D, et al. 1993. Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat. Genet. 5: 184-88
    • (1993) Nat. Genet. , vol.5 , pp. 184-188
    • Mhatre, A.N.1    Trifiro, M.A.2    Kaufman, M.3    Kazemi-Esfarjani, P.4    Figlewicz, D.5
  • 78
    • 0024396320 scopus 로고
    • Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins
    • Mitchell PJ, Tjian R. 1989. Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins. Science 245: 371-78
    • (1989) Science , vol.245 , pp. 371-378
    • Mitchell, P.J.1    Tjian, R.2
  • 79
    • 0028564949 scopus 로고
    • Mismatch repair, genetic stability, and cancer
    • Modrich P. 1994. Mismatch repair, genetic stability, and cancer. Science 266:1959-60
    • (1994) Science , vol.266 , pp. 1959-1960
    • Modrich, P.1
  • 81
    • 0028060244 scopus 로고
    • Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)
    • Nagafuchi S, Yanagisawa H, Ohsaki E, Shirayama T, Tadokoro K, et al. 1994a. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat. Genet. 8:177-82
    • (1994) Nat. Genet. , vol.8 , pp. 177-182
    • Nagafuchi, S.1    Yanagisawa, H.2    Ohsaki, E.3    Shirayama, T.4    Tadokoro, K.5
  • 82
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, et al. 1994b. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat. Genet. 6:14-18
    • (1994) Nat. Genet. , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3    Shirayama, T.4    Ohsaki, E.5
  • 83
    • 0020064620 scopus 로고
    • Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy
    • Naito H, Oyanagi S. 1982. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 32:798-807
    • (1982) Neurology , vol.32 , pp. 798-807
    • Naito, H.1    Oyanagi, S.2
  • 84
    • 0027981933 scopus 로고
    • Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis
    • Nancarrow JK, Kremer E, Holman K, Eyre H, Doggett NA, et al. 1994. Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science 264:1938-41
    • (1994) Science , vol.264 , pp. 1938-1941
    • Nancarrow, J.K.1    Kremer, E.2    Holman, K.3    Eyre, H.4    Doggett, N.A.5
  • 85
    • 0029055717 scopus 로고
    • Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
    • Nasir J, Floresco SB, O'Kusky JR, Dewart VM, Richman J, et al. 1995. Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81:811-23
    • (1995) Cell , vol.81 , pp. 811-823
    • Nasir, J.1    Floresco, S.B.2    O'Kusky, J.R.3    Dewart, V.M.4    Richman, J.5
  • 86
    • 0027314736 scopus 로고
    • Trinucleotide repeat instability: When and where?
    • Nelson DL, Warren ST. 1993. Trinucleotide repeat instability: when and where? Nat. Genet. 4:107-8
    • (1993) Nat. Genet. , vol.4 , pp. 107-108
    • Nelson, D.L.1    Warren, S.T.2
  • 87
    • 8544258863 scopus 로고
    • Combined degeneration of globus pallidus and dentate nucleus and their projections
    • Neumann MN. 1959. Combined degeneration of globus pallidus and dentate nucleus and their projections. Neurology 9:430-38
    • (1959) Neurology , vol.9 , pp. 430-438
    • Neumann, M.N.1
  • 88
    • 0027958627 scopus 로고
    • Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington's disease
    • Novelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, et al. 1994. Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington's disease. Hum. Mol. Genet. 3:93-98
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 93-98
    • Novelletto, A.1    Persichetti, F.2    Sabbadini, G.3    Mandich, P.4    Bellone, E.5
  • 89
    • 0027406466 scopus 로고
    • Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle
    • Novelli G, Gennarelli M, Zelano G, Pizzati A, Fattorini C, et al. 1993. Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle. Biochem. Mol. Biol. Int. 29:291-97
    • (1993) Biochem. Mol. Biol. Int. , vol.29 , pp. 291-297
    • Novelli, G.1    Gennarelli, M.2    Zelano, G.3    Pizzati, A.4    Fattorini, C.5
  • 90
    • 0009108278 scopus 로고
    • The fragile X syndrome
    • ed. CR Scriver, AL Beaudet, WS Sly, D Valle, New York: McGraw-Hill
    • Nussbaum RL, Ledbetter DH. 1989. The fragile X syndrome. In Metabolic Basis of Inherited Diseases, ed. CR Scriver, AL Beaudet, WS Sly, D Valle, pp. 327-42. New York: McGraw-Hill
    • (1989) Metabolic Basis of Inherited Diseases , pp. 327-342
    • Nussbaum, R.L.1    Ledbetter, D.H.2
  • 91
    • 0026339303 scopus 로고
    • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
    • Oberle I, Rousseau F, Heitz D, Kietz C, Devys D, et al. 1991. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1087-102
    • (1991) Science , vol.252 , pp. 1087-1102
    • Oberle, I.1    Rousseau, F.2    Heitz, D.3    Kietz, C.4    Devys, D.5
  • 92
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr HT, Chung M, Banfi S, Kwialkowski TJ, Servadio A, et al. 1993. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 4:221-26
    • (1993) Nat. Genet. , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.2    Banfi, S.3    Kwialkowski, T.J.4    Servadio, A.5
  • 93
    • 0028099702 scopus 로고
    • Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
    • Parrish JE, Oostra BA, Verkerk AJ, Richards CS, Reynolds J, et al. 1994. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat. Genet. 8:229-35
    • (1994) Nat. Genet. , vol.8 , pp. 229-235
    • Parrish, J.E.1    Oostra, B.A.2    Verkerk, A.J.3    Richards, C.S.4    Reynolds, J.5
  • 94
    • 0025995937 scopus 로고
    • Different activation domains of Sp1 govern formation of multimers and mediate transcriptional synergism
    • Pascal E, Tjian R. 1991. Different activation domains of Sp1 govern formation of multimers and mediate transcriptional synergism. Genes Dev. 5:1646-56
    • (1991) Genes Dev. , vol.5 , pp. 1646-1656
    • Pascal, E.1    Tjian, R.2
  • 95
    • 0028283985 scopus 로고
    • Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
    • Perutz MF, Johnson T, Suzuki M, Finch JT. 1994. Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc. Natl. Acad. Sci. USA 91:5355-58
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 5355-5358
    • Perutz, M.F.1    Johnson, T.2    Suzuki, M.3    Finch, J.T.4
  • 96
    • 0025833298 scopus 로고
    • Absence of expression of the FMR-1 gene in fragile X syndrome
    • Pieretti M, Zhang F, Fu YH, Warren ST, Oostra BA, et al. 1991. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66:817-22
    • (1991) Cell , vol.66 , pp. 817-822
    • Pieretti, M.1    Zhang, F.2    Fu, Y.H.3    Warren, S.T.4    Oostra, B.A.5
  • 98
    • 0027511236 scopus 로고
    • Genetics and physiology of the myotonic muscle disorders
    • Ptacek LJ, Johnson KJ, Griggs RC. 1993. Genetics and physiology of the myotonic muscle disorders. New Engl. J. Med 328:482-89
    • (1993) New Engl. J. Med. , vol.328 , pp. 482-489
    • Ptacek, L.J.1    Johnson, K.J.2    Griggs, R.C.3
  • 99
    • 0028100732 scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia type 1: Evidence for familial effects on the age of onset
    • Ranum LP, Chung M, Banfi S, Bryer A, Schut LJ, et al. 1994. Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age of onset Am. J. Hum. Genet. 55:244-52
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 244-252
    • Ranum, L.P.1    Chung, M.2    Banfi, S.3    Bryer, A.4    Schut, L.J.5
  • 100
    • 0027457944 scopus 로고
    • Genetic complementation reveals a novel regulatory role for 3′ untranslated regions in growth and differentiation
    • Rastinejad F, Blau HM. 1993. Genetic complementation reveals a novel regulatory role for 3′ untranslated regions in growth and differentiation. Cell 72:903-17
    • (1993) Cell , vol.72 , pp. 903-917
    • Rastinejad, F.1    Blau, H.M.2
  • 101
    • 0027408596 scopus 로고
    • Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring
    • Redman JB, Fenwick RG, Fu Y-H, Pizzuti A, Caskey CT. 1993. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. J. Am. Med. Assoc. 269:1960-65
    • (1993) J. Am. Med. Assoc. , vol.269 , pp. 1960-1965
    • Redman, J.B.1    Fenwick, R.G.2    Fu, Y.-H.3    Pizzuti, A.4    Caskey, C.T.5
  • 103
    • 0027288903 scopus 로고
    • The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm
    • Reyniers E, Vits L, De Boulle, Van Roy B, Van Velzen D, et al. 1993. The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat. Genet. 4:143-46
    • (1993) Nat. Genet. , vol.4 , pp. 143-146
    • Reyniers, E.1    Vits, L.2    De Boulle3    Van Roy, B.4    Van Velzen, D.5
  • 104
  • 105
    • 0028567730 scopus 로고
    • The cloning of FRAXF: Trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter
    • Ritchie RJ, Knight SJL, Hirst MC, Grewal PK, Bobrow M, et al. 1994. The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Hum. Mol. Genet. 3:2115-21
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2115-2121
    • Ritchie, R.J.1    Knight, S.J.L.2    Hirst, M.C.3    Grewal, P.K.4    Bobrow, M.5
  • 106
    • 0026708036 scopus 로고
    • Machado-Joseph disease: An autosomal dominant motor system degeneration
    • Rosenberg RN. 1992. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov. Disord. 7:193-203
    • (1992) Mov. Disord. , vol.7 , pp. 193-203
    • Rosenberg, R.N.1
  • 107
    • 0028859878 scopus 로고
    • Autosomal dominant cerebellar phenotypes: The genotype has settled the issue
    • Rosenberg RN. 1995. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 45:1-5
    • (1995) Neurology , vol.45 , pp. 1-5
    • Rosenberg, R.N.1
  • 108
    • 0027300219 scopus 로고
    • Genes with triplet repeats: Candidate mediators of neuropsychiatric disorders
    • Ross CA, McInnis MG, Margolis RL, Li S-H. 1993. Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. Trends Neurosci. 16:254-60
    • (1993) Trends Neurosci. , vol.16 , pp. 254-260
    • Ross, C.A.1    McInnis, M.G.2    Margolis, R.L.3    Li, S.-H.4
  • 109
    • 0027163546 scopus 로고
    • Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene
    • Sabouri LA, Mahadevan MS, Narang M, Lee DSE, Surh LC, et al. 1993. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nat. Genet. 4:233-38
    • (1993) Nat. Genet. , vol.4 , pp. 233-238
    • Sabouri, L.A.1    Mahadevan, M.S.2    Narang, M.3    Lee, D.S.E.4    Surh, L.C.5
  • 110
    • 0017195462 scopus 로고
    • Maturational arrest of fetal muscle in neonatal myotonic dystrophy
    • Sarnat HB, Silben SW. 1976. Maturational arrest of fetal muscle in neonatal myotonic dystrophy. Arch. Neurol. 33:466-74
    • (1976) Arch. Neurol. , vol.33 , pp. 466-474
    • Sarnat, H.B.1    Silben, S.W.2
  • 111
    • 0000051759 scopus 로고
    • Hereditary ataxia: Clinical study through six generations
    • Schut JW. 1954. Hereditary ataxia: clinical study through six generations. Arch. Neurol. Psychiatry 63:535-67
    • (1954) Arch. Neurol. Psychiatry , vol.63 , pp. 535-567
    • Schut, J.W.1
  • 112
    • 0029014180 scopus 로고
    • Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
    • Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Soghbi HY. 1995. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat. Genet. 10:94-98
    • (1995) Nat. Genet. , vol.10 , pp. 94-98
    • Servadio, A.1    Koshy, B.2    Armstrong, D.3    Antalffy, B.4    Orr, H.T.5    Soghbi, H.Y.6
  • 113
    • 0029034511 scopus 로고
    • Widespread expression of Huntington's disease gene (IT15) protein product
    • Sharp AH, Loev SJ, Schilling G, Li S-H, Li X-J, et al. 1995. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 14:1-20
    • (1995) Neuron , vol.14 , pp. 1-20
    • Sharp, A.H.1    Loev, S.J.2    Schilling, G.3    Li, S.-H.4    Li, X.-J.5
  • 114
    • 0021961665 scopus 로고
    • Further segregation analysis of the fragile X syndrome with special reference to transmitting males
    • Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebler PN, et al. 1985. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum. Genet. 69:289-99
    • (1985) Hum. Genet. , vol.69 , pp. 289-299
    • Sherman, S.L.1    Jacobs, P.A.2    Morton, N.E.3    Froster-Iskenius, U.4    Howard-Peebler, P.N.5
  • 115
    • 0027327486 scopus 로고
    • The protein product of the fragile X gene, FMR-1, has characteristics of an RNA binding protein
    • Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. 1993. The protein product of the fragile X gene, FMR-1, has characteristics of an RNA binding protein. Cell 74:291-98
    • (1993) Cell , vol.74 , pp. 291-298
    • Siomi, H.1    Siomi, M.C.2    Nussbaum, R.L.3    Dreyfuss, G.4
  • 117
    • 9044232811 scopus 로고
    • Unusual form of cerebellar ataxia: Combined dentatorubral-pallidoluysian atrophy
    • Smith JK, Gonda VE, Malamud N. 1958. Unusual form of cerebellar ataxia: combined dentatorubral-pallidoluysian atrophy. Neurology 32:798-807
    • (1958) Neurology , vol.32 , pp. 798-807
    • Smith, J.K.1    Gonda, V.E.2    Malamud, N.3
  • 118
    • 0027261537 scopus 로고
    • Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
    • Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou PL, et al. 1993. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat. Genet. 4:393-97
    • (1993) Nat. Genet. , vol.4 , pp. 393-397
    • Snell, R.G.1    MacMillan, J.C.2    Cheadle, J.P.3    Fenton, I.4    Lazarou, P.L.5
  • 119
    • 0024586435 scopus 로고
    • X-linked recessive bulbospinal neuronopathy: A clinicopathological study
    • Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, et al. 1989. X-linked recessive bulbospinal neuronopathy: a clinicopathological study. Brain 112:209-32
    • (1989) Brain , vol.112 , pp. 209-232
    • Sobue, G.1    Hashizume, Y.2    Mukai, E.3    Hirayama, M.4    Mitsuma, T.5
  • 120
    • 0029059477 scopus 로고
    • Incorporation of glutamine repeats makes protein oligomerize: Implications for neurodegenerative diseases
    • In press
    • Stott K, Blackburn JM, Butler PJG, Perutz M. 1995. Incorporation of glutamine repeats makes protein oligomerize: implications for neurodegenerative diseases. Proc. Natl. Acad Sci. USA. In press
    • (1995) Proc. Natl. Acad Sci. USA
    • Stott, K.1    Blackburn, J.M.2    Butler, P.J.G.3    Perutz, M.4
  • 121
    • 0027432418 scopus 로고
    • Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues
    • Strong TV, Tagle DA, Valdes JM, Elmer LW, Boehm K, et al. 1993. Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues. Nat. Genet. 5:259-65
    • (1993) Nat. Genet. , vol.5 , pp. 259-265
    • Strong, T.V.1    Tagle, D.A.2    Valdes, J.M.3    Elmer, L.W.4    Boehm, K.5
  • 124
    • 0023680089 scopus 로고
    • Hereditary dentatorubral-pallidoluysian atrophy: Clinical and pathologic variants in a family
    • Takahashi H, Okama E, Naito H, Takeda S, Nakashima S, et al. 1988. Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. Neurology 38:1065-70
    • (1988) Neurology , vol.38 , pp. 1065-1070
    • Takahashi, H.1    Okama, E.2    Naito, H.3    Takeda, S.4    Nakashima, S.5
  • 125
    • 0028339385 scopus 로고
    • Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
    • Telenius H, Kremer B, Goldberg YP, Theilman J, Andrew SE, et al. 1994. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat. Genet. 6:409-14
    • (1994) Nat. Genet. , vol.6 , pp. 409-414
    • Telenius, H.1    Kremer, B.2    Goldberg, Y.P.3    Theilman, J.4    Andrew, S.E.5
  • 126
    • 0028334933 scopus 로고
    • Myotonic dystrophy with no trinucleotide repeat expansion
    • Thornton CA, Griggs RC, Moxley RT III. 1994. Myotonic dystrophy with no trinucleotide repeat expansion. Ann. Neurol. 35: 269-71
    • (1994) Ann. Neurol. , vol.35 , pp. 269-271
    • Thornton, C.A.1    Griggs, R.C.2    Moxley III, R.T.3
  • 127
    • 0029055601 scopus 로고
    • Cellular localization of the Huntington's disease protein and discriminiation of the normal and mutated form
    • Trottier Y, Devys D, Imbert G, Saudou F, An I, et al. 1995. Cellular localization of the Huntington's disease protein and discriminiation of the normal and mutated form. Nat. Genet. 10:104-10
    • (1995) Nat. Genet. , vol.10 , pp. 104-110
    • Trottier, Y.1    Devys, D.2    Imbert, G.3    Saudou, F.4    An, I.5
  • 128
    • 0026879229 scopus 로고
    • Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
    • Tsilfidis C, MacKenzie AE, Mettler G, Barcelo J, Korneluk RG. 1992. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat. Genet. 1:192-95
    • (1992) Nat. Genet. , vol.1 , pp. 192-195
    • Tsilfidis, C.1    MacKenzie, A.E.2    Mettler, G.3    Barcelo, J.4    Korneluk, R.G.5
  • 130
    • 0027236971 scopus 로고
    • Characterization and localization of the FMR-1 gene product associated with fragile-X syndrome
    • Verheij C, Bakker CE, de Graff E, Keulemana J, Willemsen R, et al. 1993. Characterization and localization of the FMR-1 gene product associated with fragile-X syndrome. Nature 363:722-24
    • (1993) Nature , vol.363 , pp. 722-724
    • Verheij, C.1    Bakker, C.E.2    De Graff, E.3    Keulemana, J.4    Willemsen, R.5
  • 131
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, et al. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-14
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5
  • 133
    • 0026443976 scopus 로고
    • X-linked spinomuscular atrophy; a kindred with associated abnormal androgen binding
    • Warner CL, Griffen JE, Wilson JD, Jacobs LD, Murray KR, et al. 1992. X-linked spinomuscular atrophy; a kindred with associated abnormal androgen binding. Neurology 42: 2181-84
    • (1992) Neurology , vol.42 , pp. 2181-2184
    • Warner, C.L.1    Griffen, J.E.2    Wilson, J.D.3    Jacobs, L.D.4    Murray, K.R.5
  • 134
    • 0026086831 scopus 로고
    • Molecular approaches to hereditary diseases of the nervous system: Huntington's disease as a paradigm
    • Wexler NS, Rose EA, Housman DE. 1991. Molecular approaches to hereditary diseases of the nervous system: Huntington's disease as a paradigm. Annu. Rev. Neurosci. 14:503-29
    • (1991) Annu. Rev. Neurosci. , vol.14 , pp. 503-529
    • Wexler, N.S.1    Rose, E.A.2    Housman, D.E.3
  • 135
    • 0021926007 scopus 로고
    • opa: A novel family of transcribed repeats shared by the Notch locus and other developmentally regulated loci in D. melanogaster
    • Wharton KA, Yedvobnick B, Finnerty VG, Artavanis-Tsakpnas S. 1985. opa: a novel family of transcribed repeats shared by the Notch locus and other developmentally regulated loci in D. melanogaster. Cell 40:55-62
    • (1985) Cell , vol.40 , pp. 55-62
    • Wharton, K.A.1    Yedvobnick, B.2    Finnerty, V.G.3    Artavanis-Tsakpnas, S.4
  • 136
    • 0028120131 scopus 로고
    • Myotonic dystrophy reviewed: Back to the future?
    • Wieringa B. 1994. Myotonic dystrophy reviewed: back to the future? Hum. Mol. Genet. 3:1-7
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1-7
    • Wieringa, B.1
  • 138
    • 0027310525 scopus 로고
    • Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion
    • Wohrle D, Hennig I, Vogel W, Steinbach P. 1993. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat. Genet. 4:140-42
    • (1993) Nat. Genet. , vol.4 , pp. 140-142
    • Wohrle, D.1    Hennig, I.2    Vogel, W.3    Steinbach, P.4
  • 139
    • 0026781016 scopus 로고
    • A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile X site, in a male with the clinical phenotype of fragile X syndrome
    • Wohrle D, Kotzot D, Hirst MC, Manca A, Korn B, et al. 1992. A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile X site, in a male with the clinical phenotype of fragile X syndrome. Am. J. Hum. Genet. 51:299-306
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 299-306
    • Wohrle, D.1    Kotzot, D.2    Hirst, M.C.3    Manca, A.4    Korn, B.5
  • 140
    • 0029015557 scopus 로고
    • Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain
    • Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I, et al. 1995. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nat. Genet. 10:99-103
    • (1995) Nat. Genet. , vol.10 , pp. 99-103
    • Yazawa, I.1    Nukina, N.2    Hashida, H.3    Goto, J.4    Yamada, M.5    Kanazawa, I.6
  • 141
    • 0024389638 scopus 로고
    • Administration of testosterone attenuates neuronal loss following axotomy in the brain-stem motor nuclei of female rats
    • Yu W-HA. 1989. Administration of testosterone attenuates neuronal loss following axotomy in the brain-stem motor nuclei of female rats. J. Neurosci. 9:3908-14
    • (1989) J. Neurosci. , vol.9 , pp. 3908-3914
    • Yu, W.-H.A.1
  • 142
    • 0027982427 scopus 로고
    • Studying human mutations by sperm typing: Instability of CAG trinucleotide repeats in the human androgen receptor gene
    • Zhang L, Leeflang EP, Yu JY, Arnheim N. 1994. Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene. Nat. Genet. 7:531-35
    • (1994) Nat. Genet. , vol.7 , pp. 531-535
    • Zhang, L.1    Leeflang, E.P.2    Yu, J.Y.3    Arnheim, N.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.