메뉴 건너뛰기




Volumn 57, Issue 3, 2005, Pages 349-354

Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 14844297397     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20371     Document Type: Article
Times cited : (67)

References (41)
  • 1
    • 0028067717 scopus 로고
    • Molecular genetics of hereditary ataxias
    • Banfi S, Zoghbi HY. Molecular genetics of hereditary ataxias. Baillieres Clin Neurol 1994;3:281-295.
    • (1994) Baillieres Clin Neurol , vol.3 , pp. 281-295
    • Banfi, S.1    Zoghbi, H.Y.2
  • 2
    • 0030910288 scopus 로고    scopus 로고
    • The genetic basis of hereditary ataxia
    • Klockgether T, Dichgans J. The genetic basis of hereditary ataxia. Prog Brain Res 1997;114:569-576.
    • (1997) Prog Brain Res , vol.114 , pp. 569-576
    • Klockgether, T.1    Dichgans, J.2
  • 3
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr HT, Chung M-y, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:211-226.
    • (1993) Nat Genet , vol.4 , pp. 211-226
    • Orr, H.T.1    Chung, M.-Y.2    Banfi, S.3
  • 4
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
    • Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-284.
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3
  • 5
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 6
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 7
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 8
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the sca7 gene reveals a highly unstable cag repeat expansion
    • David G, Abbas N, Stevanin G, et al. Cloning of the sca7 gene reveals a highly unstable cag repeat expansion. Nat Genet 1997; 17:65-70.
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 9
    • 0032900772 scopus 로고    scopus 로고
    • An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
    • Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21:379-384.
    • (1999) Nat Genet , vol.21 , pp. 379-384
    • Koob, M.D.1    Moseley, M.L.2    Schut, L.J.3
  • 10
    • 0033771685 scopus 로고    scopus 로고
    • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    • Matsuura T, Yamagata T, Burgess DL, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000;26:191-194.
    • (2000) Nat Genet , vol.26 , pp. 191-194
    • Matsuura, T.1    Yamagata, T.2    Burgess, D.L.3
  • 11
    • 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
  • 12
    • 0035393427 scopus 로고    scopus 로고
    • SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
    • Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001;10:1441-1448.
    • (2001) Hum Mol Genet , vol.10 , pp. 1441-1448
    • Nakamura, K.1    Jeong, S.Y.2    Uchihara, T.3
  • 13
    • 0037219826 scopus 로고    scopus 로고
    • A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia
    • van Swieten JC, Brusse E, de Graaf BM, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet 2003;72: 191-199.
    • (2003) Am J Hum Genet , vol.72 , pp. 191-199
    • Van Swieten, J.C.1    Brusse, E.2    De Graaf, B.M.3
  • 14
    • 0037385006 scopus 로고    scopus 로고
    • Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
    • Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003;72:839-849.
    • (2003) Am J Hum Genet , vol.72 , pp. 839-849
    • Chen, D.H.1    Brkanac, Z.2    Verlinde, C.L.3
  • 15
    • 0031647246 scopus 로고    scopus 로고
    • Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
    • Moseley ML, Benzow KA, Schut LJ, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998;51:1666-1671.
    • (1998) Neurology , vol.51 , pp. 1666-1671
    • Moseley, M.L.1    Benzow, K.A.2    Schut, L.J.3
  • 16
    • 0037043031 scopus 로고    scopus 로고
    • Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients
    • Matuyama H, Izumi Y, Morino H, et al. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. Am J Med Genet 2002;114:578-583.
    • (2002) Am J Med Genet , vol.114 , pp. 578-583
    • Matuyama, H.1    Izumi, Y.2    Morino, H.3
  • 17
    • 2442464954 scopus 로고    scopus 로고
    • Molecular genetics of hereditary spinocerebellar ataxia: Mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
    • Brusco A, Gellera C, Cagnoli C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 2004;61:727-733.
    • (2004) Arch Neurol , vol.61 , pp. 727-733
    • Brusco, A.1    Gellera, C.2    Cagnoli, C.3
  • 18
    • 14844302352 scopus 로고    scopus 로고
    • A web-based software system for linkage analysis and information management
    • Yu GY, Liu JX, Xie TD, et al. A web-based software system for linkage analysis and information management. Am J Hum Genet 2001;69(suppl):504.
    • (2001) Am J Hum Genet , vol.69 , Issue.SUPPL. , pp. 504
    • Yu, G.Y.1    Liu, J.X.2    Xie, T.D.3
  • 19
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998;63:259-266.
    • (1998) Am J Hum Genet , vol.63 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 22
    • 0028790963 scopus 로고
    • The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance
    • O'Connell JR, Weeks DE. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 1995;11:402-408.
    • (1995) Nat Genet , vol.11 , pp. 402-408
    • O'Connell, J.R.1    Weeks, D.E.2
  • 23
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996;58:1347-1363.
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 24
    • 0032502721 scopus 로고    scopus 로고
    • Type I phosphatidylinositol-4-phosphate 5-kinases. Cloning of the third isoform and deletion/substitution analysis of members of this novel lipid kinase family
    • Ishihara H, Shibasaki Y, Kizuki N, et al. Type I phosphatidylinositol-4- phosphate 5-kinases. Cloning of the third isoform and deletion/substitution analysis of members of this novel lipid kinase family. J Biol Chem 1998;273: 8741-8748.
    • (1998) J Biol Chem , vol.273 , pp. 8741-8748
    • Ishihara, H.1    Shibasaki, Y.2    Kizuki, N.3
  • 25
    • 0242361309 scopus 로고    scopus 로고
    • Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse
    • Bomar JM, Benke PJ, Slattery EL, et al. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nat Genet 2003;35:264-269.
    • (2003) Nat Genet , vol.35 , pp. 264-269
    • Bomar, J.M.1    Benke, P.J.2    Slattery, E.L.3
  • 26
    • 0035981222 scopus 로고    scopus 로고
    • Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins
    • Nagase T, Kikuno R, Ohara O. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. DNA Res 2001;8:319-327.
    • (2001) DNA Res , vol.8 , pp. 319-327
    • Nagase, T.1    Kikuno, R.2    Ohara, O.3
  • 27
    • 0033617742 scopus 로고    scopus 로고
    • Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
    • Kikuno R, Nagase T, Ishikawa K, et al. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res 1999;6:197-205.
    • (1999) DNA Res , vol.6 , pp. 197-205
    • Kikuno, R.1    Nagase, T.2    Ishikawa, K.3
  • 28
    • 0345526817 scopus 로고    scopus 로고
    • Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits
    • Subramony SH, Schott K, Raike RS, et al. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. Ann Neurol 2003;54:725-731.
    • (2003) Ann Neurol , vol.54 , pp. 725-731
    • Subramony, S.H.1    Schott, K.2    Raike, R.S.3
  • 29
    • 16944366032 scopus 로고    scopus 로고
    • Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild cag expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1
    • Ishikawa K, Tanaka H, Saito M, et al. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild cag expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. AmJ Hum Genet 1997;61:336-346.
    • (1997) AmJ Hum Genet , vol.61 , pp. 336-346
    • Ishikawa, K.1    Tanaka, H.2    Saito, M.3
  • 30
    • 0028020605 scopus 로고
    • A dominant spinocerebellar ataxia gene (SCA5) in a family descendent from the paternal grandparents of President Lincoln maps to chromosome 11
    • Ranum LPW, Schut LJ, Lundgren JK, et al. A dominant spinocerebellar ataxia gene (SCA5) in a family descendent from the paternal 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.W.1    Schut, L.J.2    Lundgren, J.K.3
  • 31
    • 2442687762 scopus 로고    scopus 로고
    • Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10
    • Matsuura T, Fang P, Lin X, et al. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet 2004;74:1216-1224.
    • (2004) Am J Hum Genet , vol.74 , pp. 1216-1224
    • Matsuura, T.1    Fang, P.2    Lin, X.3
  • 32
    • 0031984597 scopus 로고    scopus 로고
    • Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA
    • Koob MD, Benzow KA, Bird TD, et al. Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nat Genet 1998;18:72-75.
    • (1998) Nat Genet , vol.18 , pp. 72-75
    • Koob, M.D.1    Benzow, K.A.2    Bird, T.D.3
  • 33
    • 4043178555 scopus 로고    scopus 로고
    • Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
    • Stevanin G, Hahn V, Lohmann E, et al. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 2004;61:1242-1248.
    • (2004) Arch Neurol , vol.61 , pp. 1242-1248
    • Stevanin, G.1    Hahn, V.2    Lohmann, E.3
  • 34
    • 0346734156 scopus 로고    scopus 로고
    • Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
    • van de Warrenburg BP, Verbeek DS, Piersma SJ, et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 2003;61: 1760-1765.
    • (2003) Neurology , vol.61 , pp. 1760-1765
    • Van De Warrenburg, B.P.1    Verbeek, D.S.2    Piersma, S.J.3
  • 35
    • 0346754906 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma
    • Yabe I, Sasaki H, Chen DH, et al. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 2003;60:1749-1751.
    • (2003) Arch Neurol , vol.60 , pp. 1749-1751
    • Yabe, I.1    Sasaki, H.2    Chen, D.H.3
  • 36
    • 0037197774 scopus 로고    scopus 로고
    • Cloning and characterization of a novel NMDA receptor subunit NR3B: A dominant subunit that reduces calcium permeability
    • Matsuda K, Kamiya Y, Matsuda S, Yuzaki M. Cloning and characterization of a novel NMDA receptor subunit NR3B: a dominant subunit that reduces calcium permeability. Brain Res Mol Brain Res 2002;100:43-52.
    • (2002) Brain Res Mol Brain Res , vol.100 , pp. 43-52
    • Matsuda, K.1    Kamiya, Y.2    Matsuda, S.3    Yuzaki, M.4
  • 37
    • 0035650937 scopus 로고    scopus 로고
    • Motoneuron-specific expression of NR3B, a novel NMDA-type glutamate receptor subunit that works in a dominant-negative manner
    • Nishi M, Hinds H, Lu HP, et al. Motoneuron-specific expression of NR3B, a novel NMDA-type glutamate receptor subunit that works in a dominant-negative manner. J Neurosci 2001; 21:RC185.
    • (2001) J Neurosci , vol.21
    • Nishi, M.1    Hinds, H.2    Lu, H.P.3
  • 38
    • 0035146628 scopus 로고    scopus 로고
    • The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
    • Ladd AN, Charlet N, Cooper TA. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol Cell Biol 2001;21: 1285-1296.
    • (2001) Mol Cell Biol , vol.21 , pp. 1285-1296
    • Ladd, A.N.1    Charlet, N.2    Cooper, T.A.3
  • 39
    • 0029919450 scopus 로고    scopus 로고
    • Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
    • Timchenko LT, Miller JW, Timchenko NA, et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 1996;24: 4407-4414.
    • (1996) Nucleic Acids Res , vol.24 , pp. 4407-4414
    • Timchenko, L.T.1    Miller, J.W.2    Timchenko, N.A.3
  • 40
    • 0037458639 scopus 로고    scopus 로고
    • Loss of G protein gamma 7 alters behavior and reduces striatal alpha(olf) level and cAMP production
    • Schwindinger WF, Betz KS, Giger KE, et al. Loss of G protein gamma 7 alters behavior and reduces striatal alpha(olf) level and cAMP production. J Biol Chem 2003;278:6575-6579.
    • (2003) J Biol Chem , vol.278 , pp. 6575-6579
    • Schwindinger, W.F.1    Betz, K.S.2    Giger, K.E.3
  • 41
    • 0032529152 scopus 로고    scopus 로고
    • Isolation and characterization of human SGT and identification of homologues in Saccharomyces cerevisiae and Caenorhabditis elegans
    • Kordes E, Savelyeva L, Schwab M, et al. Isolation and characterization of human SGT and identification of homologues in Saccharomyces cerevisiae and Caenorhabditis elegans. Genomics 1998;52:90-94.
    • (1998) Genomics , vol.52 , pp. 90-94
    • Kordes, E.1    Savelyeva, L.2    Schwab, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.