메뉴 건너뛰기




Volumn 49, Issue 2, 1997, Pages 606-610

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; TRINUCLEOTIDE;

EID: 0030815628     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.2.606     Document Type: Article
Times cited : (73)

References (12)
  • 1
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Molto MD, et al. Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3
  • 2
    • 0029757676 scopus 로고    scopus 로고
    • The relationship between the trinucleotide repeat (GAA) length and clinical features in Friedreich ataxia
    • Filla A, De Michele G, Cavalcanti F, et al. The relationship between the trinucleotide repeat (GAA) length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554-560.
    • (1996) Am J Hum Genet , vol.59 , pp. 554-560
    • Filla, A.1    De Michele, G.2    Cavalcanti, F.3
  • 3
    • 17144467700 scopus 로고    scopus 로고
    • Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
    • Montermini L, Richter A, Morgan K, et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997;41:675-682.
    • (1997) Ann Neurol , vol.41 , pp. 675-682
    • Montermini, L.1    Richter, A.2    Morgan, K.3
  • 5
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret M, Ålberg G, Grandell U, et al. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 1993;2:1397-1400.
    • (1993) Hum Mol Genet , vol.2 , pp. 1397-1400
    • Anvret, M.1    Ålberg, G.2    Grandell, U.3
  • 6
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamiliar clustering of clinical features
    • Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamiliar clustering of clinical features. Brain 1981;104:589-620.
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 7
    • 0017056474 scopus 로고
    • Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia
    • Geoffroy G, Barbeau A, Breton G, et al. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 1976;3:279-286.
    • (1976) Can J Neurol Sci , vol.3 , pp. 279-286
    • Geoffroy, G.1    Barbeau, A.2    Breton, G.3
  • 8
    • 0021721469 scopus 로고
    • The neuropathology of typical Friedreich's ataxia in Quebec
    • Lamarche JB, Lemieux B, Liu HB. The neuropathology of typical Friedreich's ataxia in Quebec. Can J Neurol Sci 1984;11:592-600.
    • (1984) Can J Neurol Sci , vol.11 , pp. 592-600
    • Lamarche, J.B.1    Lemieux, B.2    Liu, H.B.3
  • 9
    • 0028146646 scopus 로고
    • Trinucleotide diseases on the rise
    • Mandel JL. Trinucleotide diseases on the rise. Nat Genet 1994;7:453-455.
    • (1994) Nat Genet , vol.7 , pp. 453-455
    • Mandel, J.L.1
  • 10
    • 9444262436 scopus 로고    scopus 로고
    • Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease
    • Lopes-Cendes I, Maciel P, Kish SJ, et al. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann Neurol 1996;40:199-206.
    • (1996) Ann Neurol , vol.40 , pp. 199-206
    • Lopes-Cendes, I.1    Maciel, P.2    Kish, S.J.3
  • 11
    • 0028339385 scopus 로고
    • Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
    • Telenius H, Kremer B, Goldberg YP, et al. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet 1994;6:409-414.
    • (1994) Nat Genet , vol.6 , pp. 409-414
    • Telenius, H.1    Kremer, B.2    Goldberg, Y.P.3
  • 12
    • 0028916306 scopus 로고
    • Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy
    • Ueno S, Kondoh K, Kotani Y, et al. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy. Hum Mol Genet 1995;4:663-666.
    • (1995) Hum Mol Genet , vol.4 , pp. 663-666
    • Ueno, S.1    Kondoh, K.2    Kotani, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.