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Volumn 53, Issue 8, 1999, Pages 1854-1857

A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis

Author keywords

Friedreich ataxia; GAA triplet repeats; Hexanucleotide repeats; Transcription

Indexed keywords

AGED; ANIMAL CELL; ARTICLE; CASE REPORT; FRIEDREICH ATAXIA; GENE EXPRESSION REGULATION; HUMAN; MALE; NONHUMAN; NUCLEOTIDE REPEAT; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL;

EID: 0033544301     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.8.1854     Document Type: Article
Times cited : (44)

References (9)
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    • Cossée, M.1    Dürr, A.2    Schmitt, M.3
  • 3
    • 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
  • 4
    • 0033054333 scopus 로고    scopus 로고
    • Heteroduplex formation may confuse the interpretation of Friedreich ataxia
    • Poirier J, Ohshima K, Pandolfo M. Heteroduplex formation may confuse the interpretation of Friedreich ataxia. Hum Mutat 1999;13:328-330.
    • (1999) Hum Mutat , vol.13 , pp. 328-330
    • Poirier, J.1    Ohshima, K.2    Pandolfo, M.3
  • 5
    • 0032486276 scopus 로고    scopus 로고
    • Inhibitory effects of expanded GAA·TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo
    • Ohshima K, Montermini L, Wells, RD, Pandolfo M. Inhibitory effects of expanded GAA·TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J Biol Chem 1998;273:14588-14595.
    • (1998) J Biol Chem , vol.273 , pp. 14588-14595
    • Ohshima, K.1    Montermini, L.2    Wells, R.D.3    Pandolfo, M.4
  • 6
    • 0030724120 scopus 로고    scopus 로고
    • Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia
    • Geschwind DH, Perlman S, Grody WW, et al. Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia. Neurology 1997;49:1004-1009.
    • (1997) Neurology , vol.49 , pp. 1004-1009
    • Geschwind, D.H.1    Perlman, S.2    Grody, W.W.3
  • 7
    • 0031941447 scopus 로고    scopus 로고
    • The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
    • Bidichandani SI, Ashizawa T, Patel PI. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 1998;62:111-121.
    • (1998) Am J Hum Genet , vol.62 , pp. 111-121
    • Bidichandani, S.I.1    Ashizawa, T.2    Patel, P.I.3
  • 9
    • 0033120042 scopus 로고    scopus 로고
    • Sticky DNA: Self-association properties of long GAA repeats in R·R·Y triplex structures from Friedreich's ataxia
    • Sakamoto N, Chastain PD, Parniewski P, et al. Sticky DNA: Self-association properties of long GAA repeats in R·R·Y triplex structures from Friedreich's ataxia. Mol Cell 1999;3:465-475.
    • (1999) Mol Cell , vol.3 , pp. 465-475
    • Sakamoto, N.1    Chastain, P.D.2    Parniewski, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.