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Volumn 109, Issue 2, 2007, Pages 200-202

Friedreich's ataxia: A clinical and genetic analysis

Author keywords

Friedreich's ataxia; Mutation analysis; Southern blot analysis; Triplet repeat expansion

Indexed keywords

FRATAXIN;

EID: 33846081051     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2006.09.003     Document Type: Article
Times cited : (9)

References (7)
  • 1
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxia and paraplegias
    • Harding A.E. Classification of the hereditary ataxia and paraplegias. Lancet 1 (1983) 1151-1155
    • (1983) Lancet , vol.1 , pp. 1151-1155
    • Harding, A.E.1
  • 2
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreich's ataxia
    • Durr A., Cossee M., Agid Y., Campuzano V., Mignard C., Penet C., et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 335 (1996) 1169-1175
    • (1996) N Engl J Med , vol.335 , pp. 1169-1175
    • Durr, A.1    Cossee, M.2    Agid, Y.3    Campuzano, V.4    Mignard, C.5    Penet, C.6
  • 3
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V., Montermini L., Molto M.D., Pianese L., Cossee M., Cavalcanti F., et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 (1996) 1423-1427
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3    Pianese, L.4    Cossee, M.5    Cavalcanti, F.6
  • 5
    • 0030739437 scopus 로고    scopus 로고
    • Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations
    • Cossee M., Schmitt M., Campuzano V., Reutenauer L., Moutou C., Mandel J.L., et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 94 (1997) 7452-7457
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 7452-7457
    • Cossee, M.1    Schmitt, M.2    Campuzano, V.3    Reutenauer, L.4    Moutou, C.5    Mandel, J.L.6
  • 7
    • 0028816185 scopus 로고
    • Friedreich's ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis
    • Lopez-Arlandis J.M., Vilchez J.J., Palau F., and Sevilla T. Friedreich's ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis. Neuroepidemiology 14 (1995) 14-19
    • (1995) Neuroepidemiology , vol.14 , pp. 14-19
    • Lopez-Arlandis, J.M.1    Vilchez, J.J.2    Palau, F.3    Sevilla, T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.