메뉴 건너뛰기




Volumn 1, Issue 3, 2013, Pages 221-234

Treatment of Friedreich's ataxia

Author keywords

Animal models; Antioxidants; Cellular models; Clinical trial design; Epigenetic silencing; Friedreich's ataxia; Histone deacetylase inhibitors; Iron chelators; Iron metabolism; Mitochondrial dysfunction

Indexed keywords

A 0001; ALPHA TOCOPHEROL; ALPHA TOCOPHERYLQUINONE; BIOLOGICAL MARKER; CARNITINE; CREATINE; DEFERIPRONE; DEFEROXAMINE; FRATAXIN; HISTONE DEACETYLASE INHIBITOR; IDEBENONE; IRON CHELATING AGENT; RECOMBINANT ERYTHROPOIETIN; UBIDECARENONE; UNCLASSIFIED DRUG;

EID: 84896691710     PISSN: None     EISSN: 21678707     Source Type: Journal    
DOI: 10.1517/21678707.2013.771578     Document Type: Review
Times cited : (6)

References (105)
  • 1
    • 0019782799 scopus 로고
    • Friedreichs ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding AE. Friedreichs 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
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 2
    • 79952814526 scopus 로고    scopus 로고
    • Friedreichs ataxia: Pathology, pathogenesis, and molecular genetics
    • Koeppen AH. Friedreichs ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 2011;303:1-12
    • (2011) J Neurol Sci , vol.303 , pp. 1-12
    • Koeppen, A.H.1
  • 3
    • 62549117369 scopus 로고    scopus 로고
    • Friedreich ataxia: The clinical picture
    • Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol 2009;256(Suppl 1):3-8
    • (2009) J Neurol , vol.256 , Issue.SUPPL.1 , pp. 3-8
    • Pandolfo, M.1
  • 4
    • 77952951521 scopus 로고    scopus 로고
    • Auditory perception in individuals with Friedreichs ataxia
    • Rance G, Corben L, Barker E, et al. Auditory perception in individuals with Friedreichs ataxia. Audiol Neurootol 2010;15:229-40
    • (2010) Audiol Neurootol , vol.15 , pp. 229-240
    • Rance, G.1    Corben, L.2    Barker, E.3
  • 5
    • 84865614351 scopus 로고    scopus 로고
    • Cardiomyopathy in friedreich ataxia: Clinical findings and research
    • Payne RM, Wagner GR. Cardiomyopathy in friedreich ataxia: clinical findings and research. J Child Neurol 2012;27:1179-86
    • (2012) J Child Neurol , vol.27 , pp. 1179-1186
    • Payne, R.M.1    Wagner, G.R.2
  • 6
    • 82955190595 scopus 로고    scopus 로고
    • Friedreichs ataxia: A review from a cardiology perspective
    • Bourke T, Keane D. Friedreichs ataxia: a review from a cardiology perspective. Ir J Med Sci 2011;180:799-805
    • (2011) Ir J Med Sci , vol.180 , pp. 799-805
    • Bourke, T.1    Keane, D.2
  • 8
    • 84871957143 scopus 로고    scopus 로고
    • The central role and mechanisms of beta-cell dysfunction and death in Friedreichs ataxia-associated diabetes
    • Cnop M, Igoillo-Esteve M, Rai M, et al. The central role and mechanisms of beta-cell dysfunction and death in Friedreichs ataxia-associated diabetes. Ann Neurol 2012;72(6):971-82
    • (2012) Ann Neurol , vol.72 , Issue.6 , pp. 971-982
    • Cnop, M.1    Igoillo-Esteve, M.2    Rai, M.3
  • 9
    • 13344270899 scopus 로고    scopus 로고
    • Friedreichs ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Molto MD, et al. Friedreichs ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-7
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3
  • 10
    • 8544240144 scopus 로고    scopus 로고
    • The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
    • Montermini L, Andermann E, Labuda M, et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 1997;6:1261-6
    • (1997) Hum Mol Genet , vol.6 , pp. 1261-1266
    • Montermini, L.1    Andermann, E.2    Labuda, M.3
  • 11
    • 0030739437 scopus 로고    scopus 로고
    • Evolution of the Friedreichs ataxia trinucleotide repeat expansion: Founder effect and premutations
    • Cossee M, Schmitt M, Campuzano V, et al. Evolution of the Friedreichs ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA 1997;94:7452-7
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 7452-7457
    • Cossee, M.1    Schmitt, M.2    Campuzano, V.3
  • 12
    • 0030815628 scopus 로고    scopus 로고
    • Somatic mosaicism for Friedreichs ataxia GAA triplet repeat expansions in the central nervous system
    • Montermini L, Kish SJ, Jiralerspong S, et al. Somatic mosaicism for Friedreichs ataxia GAA triplet repeat expansions in the central nervous system. Neurology 1997;49:606-10
    • (1997) Neurology , vol.49 , pp. 606-610
    • Montermini, L.1    Kish, S.J.2    Jiralerspong, S.3
  • 13
    • 33846815260 scopus 로고    scopus 로고
    • Progressive GAA expansions in dorsal root ganglia of Friedreichs ataxia patients
    • De Biase I, Rasmussen A, Endres D, et al. Progressive GAA expansions in dorsal root ganglia of Friedreichs ataxia patients. Ann Neurol 2007;61:55-60
    • (2007) Ann Neurol , vol.61 , pp. 55-60
    • De Biase, I.1    Rasmussen, A.2    Endres, D.3
  • 14
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreichs ataxia
    • Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreichs ataxia. N Engl J Med 1996;335:1169-75
    • (1996) N Engl J Med , vol.335 , pp. 1169-1175
    • Durr, A.1    Cossee, M.2    Agid, Y.3
  • 15
    • 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;41:675-82
    • (1997) Ann Neurol , vol.41 , pp. 675-682
    • Montermini, L.1    Richter, A.2    Morgan, K.3
  • 16
    • 0029757676 scopus 로고    scopus 로고
    • The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
    • Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554-60
    • (1996) Am J Hum Genet , vol.59 , pp. 554-560
    • Filla, A.1    De Michele, G.2    Cavalcanti, F.3
  • 17
    • 0037464584 scopus 로고    scopus 로고
    • DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing
    • Saveliev A, Everett C, Sharpe T, et al. DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature 2003;422:909-13
    • (2003) Nature , vol.422 , pp. 909-913
    • Saveliev, A.1    Everett, C.2    Sharpe, T.3
  • 18
    • 33748778745 scopus 로고    scopus 로고
    • Histone deacetylase inhibitors reverse gene silencing in Friedreichs ataxia
    • Herman D, Jenssen K, Burnett R, et al. Histone deacetylase inhibitors reverse gene silencing in Friedreichs ataxia. Nat Chem Biol 2006;2:551-8
    • (2006) Nat Chem Biol , vol.2 , pp. 551-558
    • Herman, D.1    Jenssen, K.2    Burnett, R.3
  • 19
    • 9844222853 scopus 로고    scopus 로고
    • Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
    • Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-80
    • (1997) Hum Mol Genet , vol.6 , pp. 1771-1780
    • Campuzano, V.1    Montermini, L.2    Lutz, Y.3
  • 20
    • 77957244407 scopus 로고    scopus 로고
    • 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;101:238-45
    • (2010) Mol Genet Metab , vol.101 , pp. 238-245
    • Deutsch, E.C.1    Santani, A.B.2    Perlman, S.L.3
  • 21
    • 0344820730 scopus 로고    scopus 로고
    • Friedreichs ataxia: Point mutations and clinical presentation of compound heterozygotes
    • Cossee M, Durr A, Schmitt M, et al. Friedreichs ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 1999;45:200-6
    • (1999) Ann Neurol , vol.45 , pp. 200-206
    • Cossee, M.1    Durr, A.2    Schmitt, M.3
  • 22
    • 7744226086 scopus 로고    scopus 로고
    • Extension of the mutation spectrum in Friedreichs ataxia: Detection of an exon deletion and novel missense mutations
    • Zuhlke CH, Dalski A, Habeck M, et al. Extension of the mutation spectrum in Friedreichs ataxia: detection of an exon deletion and novel missense mutations. Eur J Hum Genet 2004;12:979-82
    • (2004) Eur J Hum Genet , vol.12 , pp. 979-982
    • Zuhlke, C.H.1    Dalski, A.2    Habeck, M.3
  • 23
    • 77956248535 scopus 로고    scopus 로고
    • Frataxin and mitochondrial FeS cluster biogenesis
    • Stemmler TL, Lesuisse E, Pain D, Dancis A. Frataxin and mitochondrial FeS cluster biogenesis. J Biol Chem 2010;285:26737-43
    • (2010) J Biol Chem , vol.285 , pp. 26737-26743
    • Stemmler, T.L.1    Lesuisse, E.2    Pain, D.3    Dancis, A.4
  • 24
    • 79551514731 scopus 로고    scopus 로고
    • Mammalian frataxin: An essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex
    • Schmucker S, Martelli A, Colin F, et al. Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex. PLoS ONE 2011;6:e16199
    • (2011) PLoS ONE , vol.6
    • Schmucker, S.1    Martelli, A.2    Colin, F.3
  • 25
    • 62549093116 scopus 로고    scopus 로고
    • The pathogenesis of Friedreich ataxia and the structure and function of frataxin
    • Pandolfo M, Pastore A. The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J. Neurol 2009;256(Suppl 1):9-17
    • (2009) J. Neurol , vol.256 , Issue.SUPPL.1 , pp. 9-17
    • Pandolfo, M.1    Pastore, A.2
  • 26
    • 78049305276 scopus 로고    scopus 로고
    • Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex
    • Tsai C-L, Barondeau DP. Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex. Biochemistry 2010;49:9132-9
    • (2010) Biochemistry , vol.49 , pp. 9132-9139
    • Tsai, C.-L.1    Barondeau, D.P.2
  • 28
    • 84875610298 scopus 로고    scopus 로고
    • Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia
    • Epub ahead of print
    • Vaubel RA, Isaya G. Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia. Mol Cell Neurosci 2012; Epub ahead of print
    • (2012) Mol Cell Neurosci
    • Vaubel, R.A.1    Isaya, G.2
  • 29
    • 84858015433 scopus 로고    scopus 로고
    • Biogenesis of iron-sulfur clusters in mammalian cells: New insights and relevance to human disease
    • Rouault TA. Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease. Dis Model Mech 2012;5:155-64
    • (2012) Dis Model Mech , vol.5 , pp. 155-164
    • Rouault, T.A.1
  • 30
    • 0031253821 scopus 로고    scopus 로고
    • Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
    • Rotig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997;17:215-17
    • (1997) Nat Genet , vol.17 , pp. 215-217
    • Rotig, A.1    De Lonlay, P.2    Chretien, D.3
  • 31
    • 58149402407 scopus 로고    scopus 로고
    • Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation
    • Kakhlon O, Manning H, Breuer W, et al. Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation. Blood 2008;112:5219-27
    • (2008) Blood , vol.112 , pp. 5219-5227
    • Kakhlon, O.1    Manning, H.2    Breuer, W.3
  • 32
    • 77954447250 scopus 로고    scopus 로고
    • Does oxidative stress contribute to the pathology of Friedreichs ataxia? A radical question
    • Armstrong JS, Khdour O, Hecht SM. Does oxidative stress contribute to the pathology of Friedreichs ataxia? A radical question. FASEB J 2010;24:2152-63
    • (2010) FASEB J , vol.24 , pp. 2152-2163
    • Armstrong, J.S.1    Khdour, O.2    Hecht, S.M.3
  • 33
    • 84864296714 scopus 로고    scopus 로고
    • The role of mitochondria in cellular iron-sulfur protein biogenesis and iron metabolism
    • Lill R, Hoffmann B, Molik S, et al. The role of mitochondria in cellular iron-sulfur protein biogenesis and iron metabolism. Biochim Biophys Acta 2012;1823:1491-508
    • (2012) Biochim Biophys Acta , vol.1823 , pp. 1491-1508
    • Lill, R.1    Hoffmann, B.2    Molik, S.3
  • 34
    • 23644444604 scopus 로고    scopus 로고
    • Increased IRP1 activity in Friedreich ataxia
    • Lobmayr L, Brooks DG, Wilson RB. Increased IRP1 activity in Friedreich ataxia. Gene 2005;354:157-61
    • (2005) Gene , vol.354 , pp. 157-161
    • Lobmayr, L.1    Brooks, D.G.2    Wilson, R.B.3
  • 35
    • 0035780208 scopus 로고    scopus 로고
    • Glutathione in blood of patients with Friedreichs ataxia
    • Piemonte F, Pastore A, Tozzi G, et al. Glutathione in blood of patients with Friedreichs ataxia. Eur J Clin Invest 2001;31:1007-11
    • (2001) Eur J Clin Invest , vol.31 , pp. 1007-1011
    • Piemonte, F.1    Pastore, A.2    Tozzi, G.3
  • 36
    • 50849135137 scopus 로고    scopus 로고
    • Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreichs ataxia
    • Auchere F, Santos R, Planamente S, et al. Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreichs ataxia. Hum Mol Genet 2008;17:2790-802
    • (2008) Hum Mol Genet , vol.17 , pp. 2790-2802
    • Auchere, F.1    Santos, R.2    Planamente, S.3
  • 37
    • 70350622327 scopus 로고    scopus 로고
    • Friedreichs ataxia: Oxidative stress and cytoskeletal abnormalities
    • Sparaco M, Gaeta LM, Santorelli FM, et al. Friedreichs ataxia: oxidative stress and cytoskeletal abnormalities. J Neurol Sci 2009;287:111-18
    • (2009) J Neurol Sci , vol.287 , pp. 111-118
    • Sparaco, M.1    Gaeta, L.M.2    Santorelli, F.M.3
  • 38
    • 41149169596 scopus 로고    scopus 로고
    • Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
    • Mochel F, Knight MA, Tong WH, et al. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet 2008;82:652-60
    • (2008) Am J Hum Genet , vol.82 , pp. 652-660
    • Mochel, F.1    Knight, M.A.2    Tong, W.H.3
  • 39
    • 80955133245 scopus 로고    scopus 로고
    • A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins
    • Navarro-Sastre A, Tort F, Stehling O, et al. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet 2011;89:656-67
    • (2011) Am J Hum Genet , vol.89 , pp. 656-667
    • Navarro-Sastre, A.1    Tort, F.2    Stehling, O.3
  • 40
    • 0034192352 scopus 로고    scopus 로고
    • Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
    • Cossee M, Puccio H, Gansmuller A, et al. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genet 2000;9:1219-26
    • (2000) Hum Mol Genet , vol.9 , pp. 1219-1226
    • Cossee, M.1    Puccio, H.2    Gansmuller, A.3
  • 41
    • 77950354456 scopus 로고    scopus 로고
    • Friedreich ataxia: An update on animal models, frataxin function and therapies
    • Gonzalez-Cabo P, Llorens JV, Palau F, Molto MD. Friedreich ataxia: an update on animal models, frataxin function and therapies. Adv Exp Med Biol 2009;652:247-61
    • (2009) Adv Exp Med Biol , vol.652 , pp. 247-261
    • Gonzalez-Cabo, P.1    Llorens, J.V.2    Palau, F.3    Molto, M.D.4
  • 42
    • 0030846021 scopus 로고    scopus 로고
    • Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
    • Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997;276:1709-12
    • (1997) Science , vol.276 , pp. 1709-1712
    • Babcock, M.1    De Silva, D.2    Oaks, R.3
  • 43
    • 62549107492 scopus 로고    scopus 로고
    • Multicellular models of Friedreich ataxia
    • Puccio H. Multicellular models of Friedreich ataxia. J Neurol 2009;256(Suppl 1):18-24
    • (2009) J Neurol , vol.256 , Issue.SUPPL 1 , pp. 18-24
    • Puccio, H.1
  • 44
    • 0035138072 scopus 로고    scopus 로고
    • Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
    • Puccio H, Simon D, Cossee M, et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 2001;27:181-6
    • (2001) Nat Genet , vol.27 , pp. 181-186
    • Puccio, H.1    Simon, D.2    Cossee, M.3
  • 45
    • 1442324707 scopus 로고    scopus 로고
    • Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia
    • Simon D, Seznec H, Gansmuller A, et al. Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia. J Neurosci 2004;24:1987-95
    • (2004) J Neurosci , vol.24 , pp. 1987-1995
    • Simon, D.1    Seznec, H.2    Gansmuller, A.3
  • 46
    • 33846939794 scopus 로고    scopus 로고
    • Conditional mouse models for Friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy
    • Puccio H. Conditional mouse models for Friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy. Handb Exp Pharmacol 2007(178):365-75
    • (2007) Handb Exp Pharmacol , vol.178 , pp. 365-375
    • Puccio, H.1
  • 48
    • 33749638768 scopus 로고    scopus 로고
    • GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
    • Al-Mahdawi S, Pinto RM, Varshney D, et al. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics 2006;88:580-90
    • (2006) Genomics , vol.88 , pp. 580-590
    • Al-Mahdawi, S.1    Pinto, R.M.2    Varshney, D.3
  • 49
    • 0035445849 scopus 로고    scopus 로고
    • Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm
    • Santos MM, Ohshima K, Pandolfo M. Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm. Hum Mol Genet 2001;10:1935-44
    • (2001) Hum Mol Genet , vol.10 , pp. 1935-1944
    • Santos, M.M.1    Ohshima, K.2    Pandolfo, M.3
  • 50
    • 67749148227 scopus 로고    scopus 로고
    • The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia
    • Calmels N, Schmucker S, Wattenhofer-Donze M, et al. The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. PLoS One 2009;4:e6379
    • (2009) PLoS One , vol.4
    • Calmels, N.1    Schmucker, S.2    Wattenhofer-Donze, M.3
  • 51
    • 78049512763 scopus 로고    scopus 로고
    • Friedreichs ataxia induced pluripotent stem cells model intergenerational GAA-TTC triplet repeat instability
    • Ku S, Soragni E, Campau E, et al. Friedreichs ataxia induced pluripotent stem cells model intergenerational GAA-TTC triplet repeat instability. Cell Stem Cell 2010;7:631-7
    • (2010) Cell Stem Cell , vol.7 , pp. 631-637
    • Ku, S.1    Soragni, E.2    Campau, E.3
  • 52
    • 79960331887 scopus 로고    scopus 로고
    • Generation of induced pluripotent stem cell lines from Friedreich ataxia patients
    • Liu J, Verma PJ, Evans-Galea MV, et al. Generation of induced pluripotent stem cell lines from Friedreich ataxia patients. Stem Cell Rev 2011;7:703-13
    • (2011) Stem Cell Rev , vol.7 , pp. 703-713
    • Liu, J.1    Verma, P.J.2    Evans-Galea, M.V.3
  • 53
    • 84896709174 scopus 로고    scopus 로고
    • Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreichs ataxia
    • [ Epub ahead of print]
    • Hick A, Wattenhofer-Donze M, Chintawar S, et al. Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreichs ataxia. Dis Model Mech 2013;[Epub ahead of print]
    • (2013) Dis Model Mech
    • Hick, A.1    Wattenhofer-Donze, M.2    Chintawar, S.3
  • 54
    • 0030939011 scopus 로고    scopus 로고
    • International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology
    • Trouillas P, Takayanagi T, Hallett M, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 1997;145:205-11
    • (1997) J Neurol Sci , vol.145 , pp. 205-211
    • Trouillas, P.1    Takayanagi, T.2    Hallett, M.3
  • 55
    • 1542300940 scopus 로고    scopus 로고
    • Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS)
    • Storey E, Tuck K, Hester R, et al. Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS). Mov Disord 2004;19:190-2
    • (2004) Mov Disord , vol.19 , pp. 190-192
    • Storey, E.1    Tuck, K.2    Hester, R.3
  • 56
    • 34247159966 scopus 로고    scopus 로고
    • Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up
    • Ribai P, Pousset F, Tanguy M-L, et al. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol 2007;64:558-64
    • (2007) Arch Neurol , vol.64 , pp. 558-564
    • Ribai, P.1    Pousset, F.2    Tanguy, M.-L.3
  • 57
    • 0037849955 scopus 로고    scopus 로고
    • Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial
    • Mariotti C, Solari A, Torta D, et al. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 2003;60:1676-9
    • (2003) Neurology , vol.60 , pp. 1676-1679
    • Mariotti, C.1    Solari, A.2    Torta, D.3
  • 58
    • 16844371342 scopus 로고    scopus 로고
    • Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
    • Subramony SH, May W, Lynch D, et al. Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology 2005;64:1261-2
    • (2005) Neurology , vol.64 , pp. 1261-1262
    • Subramony, S.H.1    May, W.2    Lynch, D.3
  • 59
    • 33745677486 scopus 로고    scopus 로고
    • Scale for the assessment and rating of ataxia: Development of a new clinical scale
    • Schmitz-Hubsch T, Montcel du ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006;66:1717-20
    • (2006) Neurology , vol.66 , pp. 1717-1720
    • Schmitz-Hubsch, T.1    Montcel Du, I.T.2    Baliko, L.3
  • 60
    • 54049124218 scopus 로고    scopus 로고
    • Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms
    • Schmitz-Hubsch T, Coudert M, Bauer P, et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology 2008;71:982-9
    • (2008) Neurology , vol.71 , pp. 982-989
    • Schmitz-Hubsch, T.1    Coudert, M.2    Bauer, P.3
  • 61
    • 24144449944 scopus 로고    scopus 로고
    • Performance measures in Friedreich ataxia: Potential utility as clinical outcome tools
    • Lynch DR, Farmer JM, Wilson RL, Balcer LJ. Performance measures in Friedreich ataxia: potential utility as clinical outcome tools. Mov Disord 2005;20:777-82
    • (2005) Mov Disord , vol.20 , pp. 777-782
    • Lynch, D.R.1    Farmer, J.M.2    Wilson, R.L.3    Balcer, L.J.4
  • 62
    • 79251600162 scopus 로고    scopus 로고
    • Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function
    • Selak MA, Lyver E, Micklow E, et al. Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function. Mitochondrion 2011;11:342-50
    • (2011) Mitochondrion , vol.11 , pp. 342-350
    • Selak, M.A.1    Lyver, E.2    Micklow, E.3
  • 63
    • 0034642214 scopus 로고    scopus 로고
    • Increased levels of plasma malondialdehyde in Friedreich ataxia
    • Emond M, Lepage G, Vanasse M, Pandolfo M. Increased levels of plasma malondialdehyde in Friedreich ataxia. Neurology 2000;55:1752-3
    • (2000) Neurology , vol.55 , pp. 1752-1753
    • Emond, M.1    Lepage, G.2    Vanasse, M.3    Pandolfo, M.4
  • 64
    • 0034642203 scopus 로고    scopus 로고
    • Oxidative stress in patients with Friedreich ataxia
    • Schulz JB, Dehmer T, Schols L, et al. Oxidative stress in patients with Friedreich ataxia. Neurology 2000;55:1719-21
    • (2000) Neurology , vol.55 , pp. 1719-1721
    • Schulz, J.B.1    Dehmer, T.2    Schols, L.3
  • 65
    • 34548606803 scopus 로고    scopus 로고
    • Neurological effects of high-dose idebenone in patients with Friedreichs ataxia: A randomised, placebo-controlled trial
    • Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreichs ataxia: a randomised, placebo-controlled trial. Lancet Neurol 2007;6:878-86
    • (2007) Lancet Neurol , vol.6 , pp. 878-886
    • Di Prospero, N.A.1    Baker, A.2    Jeffries, N.3    Fischbeck, K.H.4
  • 66
    • 83255193054 scopus 로고    scopus 로고
    • A gene expression phenotype in lymphocytes from Friedreich ataxia patients
    • Coppola G, Burnett R, Perlman S, et al. A gene expression phenotype in lymphocytes from Friedreich ataxia patients. Ann Neurol 2011;70:790-804
    • (2011) Ann Neurol , vol.70 , pp. 790-804
    • Coppola, G.1    Burnett, R.2    Perlman, S.3
  • 67
    • 0033613262 scopus 로고    scopus 로고
    • Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
    • Lodi R, Cooper JM, Bradley JL, et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci USA 1999;96:11492-5
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 11492-11495
    • Lodi, R.1    Cooper, J.M.2    Bradley, J.L.3
  • 68
    • 79955024136 scopus 로고    scopus 로고
    • Brain diffusion-weighted imaging in Friedreichs ataxia
    • Rizzo G, Tonon C, Valentino ML, et al. Brain diffusion-weighted imaging in Friedreichs ataxia. Mov Disord 2011;26:705-12
    • (2011) Mov Disord , vol.26 , pp. 705-712
    • Rizzo, G.1    Tonon, C.2    Valentino, M.L.3
  • 69
    • 0023759184 scopus 로고
    • Evoked potential studies in Friedreichs ataxia and progressive early onset cerebellar ataxia
    • Vanasse M, Garcia-Larrea L, Neuschwander P, et al. Evoked potential studies in Friedreichs ataxia and progressive early onset cerebellar ataxia. Can J Neurol Sci 1988;15:292-8
    • (1988) Can J Neurol Sci , vol.15 , pp. 292-298
    • Vanasse, M.1    Garcia-Larrea, L.2    Neuschwander, P.3
  • 70
    • 0344588859 scopus 로고    scopus 로고
    • Central motor conduction time by magnetic stimulation of the cortex and peripheral nerve conduction follow-up studies in Friedreichs ataxia
    • Cruz-Martinez A, Palau F. Central motor conduction time by magnetic stimulation of the cortex and peripheral nerve conduction follow-up studies in Friedreichs ataxia. Electroencephalogr Clin Neurophysiol 1997;105:458-61
    • (1997) Electroencephalogr Clin Neurophysiol , vol.105 , pp. 458-461
    • Cruz-Martinez, A.1    Palau, F.2
  • 71
    • 0034213821 scopus 로고    scopus 로고
    • Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreichs ataxia: Contribution to the understanding of the pathophysiology of the disease
    • Santoro L, Perretti A, Lanzillo B, et al. Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreichs ataxia: contribution to the understanding of the pathophysiology of the disease. Clin Neurophysiol 2000;111:1023-30
    • (2000) Clin Neurophysiol , vol.111 , pp. 1023-1030
    • Santoro, L.1    Perretti, A.2    Lanzillo, B.3
  • 72
    • 38549115662 scopus 로고    scopus 로고
    • Gene-based approaches toward Friedreich ataxia therapeutics
    • Hebert MD, Whittom AA. Gene-based approaches toward Friedreich ataxia therapeutics. Cell Mol Life Sci 2007;64:3034-43
    • (2007) Cell Mol Life Sci , vol.64 , pp. 3034-3043
    • Hebert, M.D.1    Whittom, A.A.2
  • 73
    • 79958191163 scopus 로고    scopus 로고
    • Adeno-Associated Virus Vectors in the CNS
    • McCown TJ. Adeno-Associated Virus (AAV) Vectors in the CNS. Curr Gene Ther 2011;11:181-8
    • (2011) Curr Gene Ther , vol.11 , pp. 181-188
    • McCown, T.J.1
  • 74
    • 84863278400 scopus 로고    scopus 로고
    • A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreichs ataxia mouse model
    • Vyas PM, Tomamichel WJ, Pride PM, et al. A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreichs ataxia mouse model. Hum Mol Genet 2012;21:1230-47
    • (2012) Hum Mol Genet , vol.21 , pp. 1230-1247
    • Vyas, P.M.1    Tomamichel, W.J.2    Pride, P.M.3
  • 75
    • 75249096093 scopus 로고    scopus 로고
    • Development of histone deacetylase inhibitors as therapeutics for neurological disease
    • Gottesfeld JM, Pandolfo M. Development of histone deacetylase inhibitors as therapeutics for neurological disease. Future Neurol 2009;4:775-84
    • (2009) Future Neurol , vol.4 , pp. 775-784
    • Gottesfeld, J.M.1    Pandolfo, M.2
  • 76
    • 70349163898 scopus 로고    scopus 로고
    • Chemical probes identify a role for histone deacetylase 3 in Friedreichs ataxia gene silencing
    • Xu C, Soragni E, Chou CJ, et al. Chemical probes identify a role for histone deacetylase 3 in Friedreichs ataxia gene silencing. Chem Biol 2009;16:980-9
    • (2009) Chem Biol , vol.16 , pp. 980-989
    • Xu, C.1    Soragni, E.2    Chou, C.J.3
  • 77
    • 44349114629 scopus 로고    scopus 로고
    • HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model
    • Rai M, Soragni E, Jenssen K, et al. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS ONE 2008;3:e1958
    • (2008) PLoS ONE , vol.3
    • Rai, M.1    Soragni, E.2    Jenssen, K.3
  • 78
    • 77952530173 scopus 로고    scopus 로고
    • Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreichs ataxia patients and in a mouse model
    • Rai M, Soragni E, Chou CJ, et al. Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreichs ataxia patients and in a mouse model. PLoS One 2010;5:e8825
    • (2010) PLoS One , vol.5
    • Rai, M.1    Soragni, E.2    Chou, C.J.3
  • 79
    • 79954628287 scopus 로고    scopus 로고
    • Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model
    • Sandi C, Pinto RM, Al-Mahdawi S, et al. Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. Neurobiol Dis 2011;42:496-505
    • (2011) Neurobiol Dis , vol.42 , pp. 496-505
    • Sandi, C.1    Pinto, R.M.2    Al-Mahdawi, S.3
  • 80
    • 27844526573 scopus 로고    scopus 로고
    • Recombinant human erythropoietin: Effects on frataxin expression in vitro
    • Sturm B, Stupphann D, Kaun C, et al. Recombinant human erythropoietin: effects on frataxin expression in vitro. Eur J Clin Invest 2005;35:711-17
    • (2005) Eur J Clin Invest , vol.35 , pp. 711-717
    • Sturm, B.1    Stupphann, D.2    Kaun, C.3
  • 81
    • 53849123624 scopus 로고    scopus 로고
    • Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression
    • Acquaviva F, Castaldo I, Filla A, et al. Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression. Cerebellum 2008;7:360-5
    • (2008) Cerebellum , vol.7 , pp. 360-365
    • Acquaviva, F.1    Castaldo, I.2    Filla, A.3
  • 82
    • 37349059308 scopus 로고    scopus 로고
    • Friedreichs ataxia: Clinical pilot trial with recombinant human erythropoietin
    • Boesch S, Sturm B, Hering S, et al. B: Friedreichs ataxia: clinical pilot trial with recombinant human erythropoietin. Ann Neurol 2007;62:521-4
    • (2007) Ann Neurol , vol.62 , pp. 521-524
    • Boesch, S.1    Sturm, B.2    Hering, S.3    Et Al., B.4
  • 83
    • 53549128911 scopus 로고    scopus 로고
    • Neurological effects of recombinant human erythropoietin in Friedreichs ataxia: A clinical pilot trial
    • Boesch S, Sturm B, Hering S, et al. Neurological effects of recombinant human erythropoietin in Friedreichs ataxia: a clinical pilot trial. Mov Disord 2008;23:1940-4
    • (2008) Mov Disord , vol.23 , pp. 1940-1944
    • Boesch, S.1    Sturm, B.2    Hering, S.3
  • 84
    • 84858292675 scopus 로고    scopus 로고
    • Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial
    • Mariotti C, Fancellu R, Caldarazzo S, et al. Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial. Mov Disord 2012;27:446-9
    • (2012) Mov Disord , vol.27 , pp. 446-449
    • Mariotti, C.1    Fancellu, R.2    Caldarazzo, S.3
  • 85
    • 77952611229 scopus 로고    scopus 로고
    • Carbamylated erythropoietin increases frataxin independent from the erythropoietin receptor
    • Sturm B, Helminger M, Steinkellner H, et al. Carbamylated erythropoietin increases frataxin independent from the erythropoietin receptor. Eur J Clin Invest 2010;40:561-5
    • (2010) Eur J Clin Invest , vol.40 , pp. 561-565
    • Sturm, B.1    Helminger, M.2    Steinkellner, H.3
  • 86
    • 0042318834 scopus 로고    scopus 로고
    • Cisplatin may induce frataxin expression
    • Ghazizadeh M. Cisplatin may induce frataxin expression. J Nihon Med Sch 2003;70:367-71
    • (2003) J Nihon Med Sch , vol.70 , pp. 367-371
    • Ghazizadeh, M.1
  • 87
    • 72249116054 scopus 로고    scopus 로고
    • A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels
    • Steinkellner H, Scheiber-Mojdehkar B, Goldenberg H, Sturm B. A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels. Anal Chim Acta 2010;659:129-32
    • (2010) Anal Chim Acta , vol.659 , pp. 129-132
    • Steinkellner, H.1    Scheiber-Mojdehkar, B.2    Goldenberg, H.3    Sturm, B.4
  • 88
    • 84859030208 scopus 로고    scopus 로고
    • Primary and secondary drug screening assays for Friedreich ataxia
    • Cotticelli MG, Rasmussen L, Kushner NL, et al. Primary and secondary drug screening assays for Friedreich ataxia. J Biomol Screen 2012;17:303-13
    • (2012) J Biomol Screen , vol.17 , pp. 303-313
    • Cotticelli, M.G.1    Rasmussen, L.2    Kushner, N.L.3
  • 89
    • 0033000707 scopus 로고    scopus 로고
    • Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro
    • Rustin P, Munnich A, Rotig A. Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro. Biofactors 1999;9:247-51
    • (1999) Biofactors , vol.9 , pp. 247-251
    • Rustin, P.1    Munnich, A.2    Rotig, A.3
  • 90
    • 84865626592 scopus 로고    scopus 로고
    • A review of friedreich ataxia clinical trial results
    • Perlman SL. A review of friedreich ataxia clinical trial results. J Child Neurol 2012;27:1217-22
    • (2012) J Child Neurol , vol.27 , pp. 1217-1222
    • Perlman, S.L.1
  • 91
    • 34250338864 scopus 로고    scopus 로고
    • Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia
    • Di Prospero NA, Sumner CJ, Penzak SR, et al. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Arch Neurol 2007;64:803-8
    • (2007) Arch Neurol , vol.64 , pp. 803-808
    • Di Prospero, N.A.1    Sumner, C.J.2    Penzak, S.R.3
  • 92
    • 77955450939 scopus 로고    scopus 로고
    • A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia
    • Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia. Arch Neurol 2010;67:941-7
    • (2010) Arch Neurol , vol.67 , pp. 941-947
    • Lynch, D.R.1    Perlman, S.L.2    Meier, T.3
  • 93
    • 84856732716 scopus 로고    scopus 로고
    • Assessment of neurological efficacy of idebenone in pediatric patients with Friedreichs ataxia: Data from a 6-month controlled study followed by a 12-month open-label extension study
    • Meier T, Perlman SL, Rummey C, et al. Assessment of neurological efficacy of idebenone in pediatric patients with Friedreichs ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study. J Neurol 2012;259:284-91
    • (2012) J Neurol , vol.259 , pp. 284-291
    • Meier, T.1    Perlman, S.L.2    Rummey, C.3
  • 94
    • 34248149391 scopus 로고    scopus 로고
    • Friedreichs ataxia: Coenzyme Q10 and vitamin e therapy
    • Cooper JM, Schapira AHV. Friedreichs ataxia: coenzyme Q10 and vitamin E therapy. Mitochondrion 2007;7(Suppl):S127-35
    • (2007) Mitochondrion , vol.7 , Issue.SUPPL
    • Cooper, J.M.1    Schapira, A.H.V.2
  • 95
    • 56049088295 scopus 로고    scopus 로고
    • Coenzyme Q10 and vitamin e deficiency in Friedreichs ataxia: Predictor of efficacy of vitamin e and coenzyme Q10 therapy
    • Cooper JM, Korlipara LVP, Hart PE, et al. Coenzyme Q10 and vitamin E deficiency in Friedreichs ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy. Eur J Neurol 2008;15:1371-9
    • (2008) Eur J Neurol , vol.15 , pp. 1371-1379
    • Cooper, J.M.1    Lvp, K.2    Hart, P.E.3
  • 96
    • 84864024011 scopus 로고    scopus 로고
    • A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial
    • Lynch DR, Willi SM, Wilson RB, et al. A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial. Mov Disord 2012;27:1026-33
    • (2012) Mov Disord , vol.27 , pp. 1026-1033
    • Lynch, D.R.1    Willi, S.M.2    Wilson, R.B.3
  • 97
    • 84858599179 scopus 로고    scopus 로고
    • Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy
    • Sadun AA, Chicani CF, Ross-Cisneros FN, et al. Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy. Arch Neurol 2012;69:331-8
    • (2012) Arch Neurol , vol.69 , pp. 331-338
    • Sadun, A.A.1    Chicani, C.F.2    Ross-Cisneros, F.N.3
  • 98
    • 20844443983 scopus 로고    scopus 로고
    • L-carnitine and creatine in Friedreichs ataxia. A randomized, placebo-controlled crossover trial
    • Schols L, Zange J, Abele M, et al. L-carnitine and creatine in Friedreichs ataxia. A randomized, placebo-controlled crossover trial. J Neural Transm 2005;112:789-96
    • (2005) J Neural Transm , vol.112 , pp. 789-796
    • Schols, L.1    Zange, J.2    Abele, M.3
  • 99
    • 77956318471 scopus 로고    scopus 로고
    • PGC-1alpha down-regulation affects the antioxidant response in Friedreichs ataxia
    • Marmolino D, Manto M, Acquaviva F, et al. PGC-1alpha down-regulation affects the antioxidant response in Friedreichs ataxia. PLoS ONE 2010;5:e10025
    • (2010) PLoS ONE , vol.5
    • Marmolino, D.1    Manto, M.2    Acquaviva, F.3
  • 100
    • 34347370842 scopus 로고    scopus 로고
    • Selective iron chelation in Friedreich ataxia: Biologic and clinical implications
    • Boddaert N, Le Quan Sang KH, Rotig A, et al. Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood 2007;110:401-8
    • (2007) Blood , vol.110 , pp. 401-408
    • Boddaert, N.1    Le Quan Sang, K.H.2    Rotig, A.3
  • 101
    • 2542556601 scopus 로고    scopus 로고
    • Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia
    • Seznec H, Simon D, Monassier L, et al. Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet 2004;13:1017-24
    • (2004) Hum Mol Genet , vol.13 , pp. 1017-1024
    • Seznec, H.1    Simon, D.2    Monassier, L.3
  • 102
    • 38949197818 scopus 로고    scopus 로고
    • Redistribution of accumulated cell iron: A modality of chelation with therapeutic implications
    • Sohn Y-S, Breuer W, Munnich A, Cabantchik ZI. Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications. Blood 2008;111:1690-9
    • (2008) Blood , vol.111 , pp. 1690-1699
    • Sohn, Y.-S.1    Breuer, W.2    Munnich, A.3    Cabantchik, Z.I.4
  • 103
    • 79952694447 scopus 로고    scopus 로고
    • Combined therapy with idebenone and deferiprone in patients with Friedreichs ataxia
    • Velasco-Sanchez D, Aracil A, Montero R, et al. Combined therapy with idebenone and deferiprone in patients with Friedreichs ataxia. Cerebellum 2011;10:1-8
    • (2011) Cerebellum , vol.10 , pp. 1-8
    • Velasco-Sanchez, D.1    Aracil, A.2    Montero, R.3
  • 105
    • 79952451186 scopus 로고    scopus 로고
    • Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA)
    • Lagedrost SJ, Sutton MS, Cohen MS, et al. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). Am Heart J 2011;161:639-45
    • (2011) Am Heart J , vol.161 , pp. 639-645
    • Lagedrost, S.J.1    Sutton, M.S.2    Cohen, M.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.