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Volumn 76, Issue 4, 2014, Pages 487-488

Friedreich ataxia: New findings, new challenges

Author keywords

[No Author keywords available]

Indexed keywords

FRIEDREICH ATAXIA; HUMAN;

EID: 84907811889     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24259     Document Type: Note
Times cited : (6)

References (14)
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    • Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104:589-620.
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    • Harding, A.E.1
  • 3
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    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Moltò MD, et al. Friedreich's 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    Moltò, M.D.3
  • 4
    • 84907853593 scopus 로고    scopus 로고
    • Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length
    • 00:000-000
    • Chutake YK, Lam C, Costello WN, et al. Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length. Ann Neurol 2014;00:000-000.
    • (2014) Ann Neurol
    • Chutake, Y.K.1    Lam, C.2    Costello, W.N.3
  • 5
    • 77949500201 scopus 로고    scopus 로고
    • Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design
    • Friedman LS, Farmer JM, Perlman S, et al. Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord 2010;25:426-432.
    • (2010) Mov Disord , vol.25 , pp. 426-432
    • Friedman, L.S.1    Farmer, J.M.2    Perlman, S.3
  • 6
    • 84865649231 scopus 로고    scopus 로고
    • Friedreich ataxia clinical outcome measures: Natural history evaluation in 410 participants
    • Regner SR, Wilcox NS, Friedman LS, et el. Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. J Child Neurol 2012;27:1152-1158.
    • (2012) J Child Neurol , vol.27 , pp. 1152-1158
    • Regner, S.R.1    Wilcox, N.S.2    Friedman, L.S.3
  • 7
    • 84907815534 scopus 로고    scopus 로고
    • Epigenetic therapy for Friedreich ataxia
    • 00:000-000
    • Soragni E, Miao W, Iudicello M, et al. Epigenetic therapy for Friedreich ataxia. Ann Neurol 2014;00:000-000.
    • (2014) Ann Neurol
    • Soragni, E.1    Miao, W.2    Iudicello, M.3
  • 8
    • 84877857623 scopus 로고    scopus 로고
    • Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia
    • Plasterer HL, Deutsch EC, Belmonte M, et al. Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia. PLoS One 2013;8:e63958.
    • (2013) PLoS One , vol.8 , pp. e63958
    • Plasterer, H.L.1    Deutsch, E.C.2    Belmonte, M.3
  • 9
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    • A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia
    • Deutsch EC, Santani AB, Perlman SL, et al. A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab 2010;101:238-245.
    • (2010) Mol Genet Metab , vol.101 , pp. 238-245
    • Deutsch, E.C.1    Santani, A.B.2    Perlman, S.L.3
  • 10
    • 84907843433 scopus 로고    scopus 로고
    • Deferiprone in Friedreich ataxia: A six-month controlled trial
    • 00:000-000
    • Pandolfo M, Arpa J, Delatycki M, et al. Deferiprone in Friedreich ataxia: a six-month controlled trial. Ann Neurol 2014;00:000-000.
    • (2014) Ann Neurol
    • Pandolfo, M.1    Arpa, J.2    Delatycki, M.3
  • 11
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    • Friedreich ataxia: New pathways
    • Pandolfo M. Friedreich ataxia: new pathways. J Child Neurol 2012;27:1204-1211.
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  • 12
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    • Selective iron chelation in Friedreich ataxia: Biologic and clinical implications
    • Boddaert N, Le Quan Sang KH, Rötig A, et al. Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood 2007;110:401-408.
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    • Boddaert, N.1    Le Quan Sang, K.H.2    Rötig, A.3
  • 14
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    • Measuring Friedreich ataxia: Complementary features of examination and performance measures
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    • Lynch, D.R.1    Farmer, J.M.2    Tsou, A.Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.