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Volumn 22, Issue 1, 2005, Pages 71-73

Molecular genetics and its clinical application in the diagnosis of spinocerebellar ataxias

Author keywords

Dynamic mutation; Polyglutamine disease; Spinocerebellar ataxia; Trinucleotide repeat

Indexed keywords

ATAXIN 1; ATAXIN 7; SPINOCEREBELLAR ATAXIA 12 PROTEIN; SPINOCEREBELLAR ATAXIA 2 PROTEIN; SPINOCEREBELLAR ATAXIA 6 PROTEIN; UNCLASSIFIED DRUG;

EID: 13544257310     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (14)

References (18)
  • 1
    • 0036725082 scopus 로고    scopus 로고
    • The spinocerebellar ataxias: Orders emerges from chaos
    • Margolis RL. The spinocerebellar ataxias: orders emerges from chaos. Curr Neurol Neurosci Rep, 2002, 2: 447-456.
    • (2002) Curr Neurol Neurosci Rep , vol.2 , pp. 447-456
    • Margolis, R.L.1
  • 2
    • 0034931901 scopus 로고    scopus 로고
    • Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6
    • Soong BW, Lu YC, Choo KB, et al. Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Arch Neurol, 2001, 58: 1105-1109.
    • (2001) Arch Neurol , vol.58 , pp. 1105-1109
    • Soong, B.W.1    Lu, Y.C.2    Choo, K.B.3
  • 3
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol, 1993, 61: 1-14.
    • (1993) Adv Neurol , vol.61 , pp. 1-14
    • Harding, A.E.1
  • 4
    • 0028143527 scopus 로고
    • CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansion 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
  • 5
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normary bialletic trinucleotide repeat in spinocerebellar ataxia type 2 gene on human chromosome 12
    • Pulst SM, Nechiporuk T, Nechiporuk T, et al. Moderate expansion of a normary bialletic trinucleotide repeat in spinocerebellar ataxia type 2 gene on human chromosome 12. Nat Genet, 1996, 14: 269-276.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, T.2    Nechiporuk, T.3
  • 6
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr H, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet, 1993, 4: 221-226.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.1    Chung, M.Y.2    Banfi, S.3
  • 7
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small ployglutamine expansion in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small ployglutamine expansion in the alpha 1A-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 GD, 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.D.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
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in herediatary dentatorubral- pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in herediatary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet, 1994, 6: 9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 11
    • 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
  • 12
    • 0032727249 scopus 로고    scopus 로고
    • Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
    • Holms 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
    • Holms, S.E.1    O'Hearn, E.E.2    McInnis, M.G.3
  • 13
    • 0035393427 scopus 로고    scopus 로고
    • SCA17, a novel autosomal cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
    • Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal 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
  • 14
    • 13544275560 scopus 로고    scopus 로고
    • Study on the gene mutation of spinocerebellar ataxias in Guangdong Hans
    • Huang ZH, Xu PY, Liang XL. Study on the gene mutation of spinocerebellar ataxias in Guangdong Hans. Chin J Nerv Ment Dis, 2002, 28: 248-251.
    • (2002) Chin J Nerv Ment Dis , vol.28 , pp. 248-251
    • Huang, Z.H.1    Xu, P.Y.2    Liang, X.L.3
  • 15
    • 13544262338 scopus 로고
    • Clinical analysis of 957 cases with neurogenetic diseases
    • Li XH, Liang XL, Liu ZL. Clinical analysis of 957 cases with neurogenetic diseases. Chin J Med Genet, 1994, 11: 372.
    • (1994) Chin J Med Genet , vol.11 , pp. 372
    • Li, X.H.1    Liang, X.L.2    Liu, Z.L.3
  • 16
    • 0032730043 scopus 로고    scopus 로고
    • CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxias
    • Tang BS, Xia JH, Wang DA, et al. CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxias. Chin J Med Genet, 1999, 16: 281-285.
    • (1999) Chin J Med Genet , vol.16 , pp. 281-285
    • Tang, B.S.1    Xia, J.H.2    Wang, D.A.3
  • 17
    • 13544255400 scopus 로고    scopus 로고
    • Progress in clinical and genetic diagnosis on hereditary ataxias
    • Wang K, Wang GX. Progress in clinical and genetic diagnosis on hereditary ataxias. Chin J Neurol, 2001, 34: 378-381.
    • (2001) Chin J Neurol , vol.34 , pp. 378-381
    • Wang, K.1    Wang, G.X.2
  • 18
    • 13544273831 scopus 로고    scopus 로고
    • Progress in clinical and genetic diagnosis on spinocerebellar ataxias
    • Jiang H, Tang BS. Progress in clinical and genetic diagnosis on spinocerebellar ataxias. Foreign Med Sci Neurol Neurosurgery, 2002, 29: 290-293.
    • (2002) Foreign Med Sci Neurol Neurosurgery , vol.29 , pp. 290-293
    • Jiang, H.1    Tang, B.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.