메뉴 건너뛰기




Volumn 58, Issue 1, 2013, Pages 3-6

Huntington disease-like 2 (HDL2) in Venezuela: Frequency and ethnic origin

Author keywords

Abnormal movements; Ethnic origin; Genetic epidemiology; HDL2; Huntington disease like; Neurodegenerative disorders

Indexed keywords

ATAXIN 3; ATN1 PROTEIN; ATX2 PROTEIN; HUNTINGTIN; JUNCTOPHILIN 3; PRION PROTEIN; PROTEIN; TBP PROTEIN; UNCLASSIFIED DRUG;

EID: 84873033334     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.111     Document Type: Article
Times cited : (17)

References (25)
  • 2
    • 18344379670 scopus 로고    scopus 로고
    • A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
    • Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll- Ashworth, R. G. et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat. Genet. 29, 377-378 (2001).
    • (2001) Nat. Genet. , vol.29 , pp. 377-378
    • Holmes, S.E.1    O'Hearn, E.2    Rosenblatt, A.3    Callahan, C.4    Hwang, H.S.5    Ingersoll-Ashworth, R.G.6
  • 3
    • 0033911804 scopus 로고    scopus 로고
    • Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3
    • Kambouris, M., Bohega, S., Al-Tahan, A. & Meyer, B. F. Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am. J. Hum. Genet. 66, 445-452 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 445-452
    • Kambouris, M.1    Bohega, S.2    Al-Tahan, A.3    Meyer, B.F.4
  • 4
    • 0042837890 scopus 로고    scopus 로고
    • Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
    • Rolfs, A., Koeppen, A., Bauer, I., Bauer, P., Buhlmann, S., Topka, H. et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann. Neurol. 54, 367-375 (2003).
    • (2003) Ann. Neurol. , vol.54 , pp. 367-375
    • Rolfs, A.1    Koeppen, A.2    Bauer, I.3    Bauer, P.4    Buhlmann, S.5    Topka, H.6
  • 5
    • 34548505265 scopus 로고    scopus 로고
    • The Huntington's disease-like syndromes: What to consider in patients with a negative Huntington's disease gene test
    • Schneider, A., Walker, R. & Bhatia, K. The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. Nat. Clin. Pract. Neurol. 3, 517-525 (2007).
    • (2007) Nat. Clin. Pract. Neurol. , vol.3 , pp. 517-525
    • Schneider, A.1    Walker, R.2    Bhatia, K.3
  • 8
    • 84897360062 scopus 로고    scopus 로고
    • Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype
    • Bauer, I., Gencik, R. L., Laccone, F., Peters, H., Weber, B. H., Feder, E. H. et al. Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype. Ann. Neurol. 51, 662 (2002).
    • (2002) Ann. Neurol. , vol.51 , pp. 662
    • Bauer, I.1    Gencik, R.L.2    Laccone, F.3    Peters, H.4    Weber, B.H.5    Feder, E.H.6
  • 10
    • 38949205940 scopus 로고    scopus 로고
    • Huntington disease mutation in Venezuela: Age of onset, haplotype analyses and geographic aggregation
    • Paradisi, I., Hernández, A. & Arias, S. Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation. J. Hum. Genet. 53, 127-135 (2008).
    • (2008) J. Hum. Genet. , vol.53 , pp. 127-135
    • Paradisi, I.1    Hernández, A.2    Arias, S.3
  • 11
    • 0035393427 scopus 로고    scopus 로고
    • SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
    • Nakamura, K., Jeong, S. Y., Uchihara, T., Anno, M., Nagashima, K., Nagashima, T. et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum. Mol. Genet. 10, 1441-1448 (2001).
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1441-1448
    • Nakamura, K.1    Jeong, S.Y.2    Uchihara, T.3    Anno, M.4    Nagashima, K.5    Nagashima, T.6
  • 12
    • 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, J. M. et al. 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).
    • (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
  • 13
    • 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., Katayama, S. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8, 221-227 (1994).
    • (1994) Nat. Genet. , vol.8 , pp. 221-227
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3    Aizawa, M.4    Inoue, M.5    Katayama, S.6
  • 14
    • 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., Bundo, M. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat. Genet. 6, 14-18 (1994).
    • (1994) Nat. Genet. , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3    Shirayama, T.4    Ohsaki, E.5    Bundo, M.6
  • 16
    • 37549040175 scopus 로고    scopus 로고
    • A South African mixed ancestry family with Huntington disease like-2: Clinical and genetic features
    • Bardien, S., Abrahams, F., Soodyall, H., Merwe, L., Greenberg, J., Brink, T. et al. A South African mixed ancestry family with Huntington disease like-2: clinical and genetic features. Mov. Disord. 22, 2083-2089 (2007).
    • (2007) Mov. Disord. , vol.22 , pp. 2083-2089
    • Bardien, S.1    Abrahams, F.2    Soodyall, H.3    Merwe, L.4    Greenberg, J.5    Brink, T.6
  • 17
    • 84887616174 scopus 로고
    • Documentos relativos a su visita pastoral de la Diócesis de Caracas, 1771-1784, i Libro personal
    • Martí, M. Documentos relativos a su visita pastoral de la Diócesis de Caracas, 1771-1784, I Libro personal. Bol. Acad. Nac. Hist. 95, 1-637 (1969).
    • (1969) Bol. Acad. Nac. Hist. , vol.95 , pp. 1-637
    • Martí, M.1
  • 19
    • 84873050018 scopus 로고    scopus 로고
    • Accessed 18 January 2012
    • Margolis, R. Huntington disease-like 2. 2009. Available at: http://www.ncbi.nlm. nih.gov/sites/GeneTests/review (Accessed 18 January 2012).
    • (2009) Huntington Disease-like 2
    • Margolis, R.1
  • 24


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.