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Volumn 18, Issue 8, 1998, Pages 831-833

Prenatal diagnosis of Friedreich ataxia

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN; UNCLASSIFIED DRUG;

EID: 0031822037     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199808)18:8<831::AID-PD437>3.0.CO;2-N     Document Type: Short Survey
Times cited : (17)

References (15)
  • 9
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features
    • Harding, A.E. (1981). Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features, Brain, 104, 589-620.
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 12
    • 0030815628 scopus 로고    scopus 로고
    • Somatic mosaicism for the Friedreich's ataxia GAA triplet repeat expansions in the central nervous system
    • Montermini, L., Kish, S.J., Jiralerspong, S., Lamarche, J.B., Pandolfo, M. (1997b). Somatic mosaicism for the Friedreich's ataxia GAA triplet repeat expansions in the central nervous system, Neurology, 49, 606-610.
    • (1997) Neurology , vol.49 , pp. 606-610
    • Montermini, L.1    Kish, S.J.2    Jiralerspong, S.3    Lamarche, J.B.4    Pandolfo, M.5
  • 14
    • 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
    • in press
    • Ohshima, K., Montermini, L., Wells, R.D., Pandolfo, M. (1998). 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., in press.
    • (1998) J. Biol. Chem.
    • Ohshima, K.1    Montermini, L.2    Wells, R.D.3    Pandolfo, M.4
  • 15
    • 0029877383 scopus 로고    scopus 로고
    • A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus
    • Smeyers, P., Monros, E., Vilchez, J., Lopez-Arlandis, J., Prieto, F., Palau, F. (1996). A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus, Hum. Genet., 27, 824-828.
    • (1996) Hum. Genet. , vol.27 , pp. 824-828
    • Smeyers, P.1    Monros, E.2    Vilchez, J.3    Lopez-Arlandis, J.4    Prieto, F.5    Palau, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.