References
- CampuzanoVMonterminiLMoltoMDFriedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansionScience19962715254142314278596916
- FogelBLPerlmanSClinical features and molecular genetics of autosomal recessive cerebellar ataxiasLancet Neurol20076324525717303531
- PandolfoMFriedreich ataxiaArch Neurol200865101296130318852343
- Della NaveRGinestroniAGiannelliMBrain structural damage in Friedreich’s ataxiaJ Neurol Neurosurg Psychiatr2008791828517634216
- FrancaMCJrD’AbreuAYasudaCLA combined voxel-based morphometry and 1H-MRS study in patients with Friedreich’s ataxiaJ Neurol200925671114112019280106
- PaganiEGinestroniADella NaveRAssessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxiaRadiology2010255388288920501725
- HsuDTCardiac manifestations of neuromuscular disorders in childrenPaediatr Respir Rev2010111353820113990
- KippsAAlexanderMColanSDThe longitudinal course of cardiomyopathy in Friedreich’s ataxia during childhoodPediatr Cardiol200930330631018716706
- La PeanAJeffriesNGrowCRavinaBDi ProsperoNAPredictors of progression in patients with Friedreich ataxiaMov Disord200823142026203218759347
- CampuzanoVMonterminiLLutzYFrataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranesHum Mol Genet1997611177117809302253
- ShishkinAAVoineaguIMateraRLarge-scale expansions of Friedreich’s ataxia GAA repeats in yeastMol Cell2009351829219595718
- LeviSRovidaEThe role of iron in mitochondrial functionBiochim Biophys Acta20091790762963618948172
- CorreiaARWangTCraigEAGomesCMIron-binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge regionBiochem J2010426219720320001966
- PopescuBFPickeringIJGeorgeGNNicholHThe chemical form of mitochondrial iron in Friedreich’s ataxiaJ Inorg Biochem2007101695796617475338
- HuangMLBeckerEMWhitnallMRahmantoYSPonkaPRichardsonDRElucidation of the mechanism of mitochondrial iron loading in Friedreich’s ataxia by analysis of a mouse mutantProc Natl Acad Sci U S A200910638163811638619805308
- RichardsonDRHuangMLWhitnallMBeckerEMPonkaPRahmantoYSThe ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich’s ataxiaJ Mol Med201088432332919997898
- SparacoMGaetaLMSantorelliFMFriedreich’s ataxia: oxidative stress and cytoskeletal abnormalitiesJ Neurol Sci20092871211111819800081
- GakhOParkSLiuGMitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevityHum Mol Genet200615346747916371422
- RustinPvon Kleist-RetzowJCChantrel-GroussardKSidiDMunnichARotigAEffect of idebenone on cardiomyopathy in Friedreich’s ataxia: a preliminary studyLancet1999354917747747910465173
- LodiRCooperJMBradleyJLDeficit of in vivo mitochondrial ATP production in patients with Friedreich ataxiaProc Natl Acad Sci U S A19999620114921149510500204
- GiacchettiMMonticelliADe BiaseIMitochondrial DNA haplogroups influence the Friedreich’s ataxia phenotypeJ Med Genet200441429329515060107
- HeidariMMHoushmandMHosseinkhaniSNafissiSScheiber-MojdehkarBKhatamiMAssociation between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich’s ataxia patientsNeurol Sci200829648949319043662
- SeznecHSimonDBoutonCFriedreich ataxia: the oxidative stress paradoxHum Mol Genet200514446347415615771
- KearneyMOrrellRWFaheyMPandolfoMAntioxidants and other pharmacological treatments for Friedreich ataxiaCochrane Database Syst Rev20094CD00779119821439
- CoppolaGMarmolinoDLuDFunctional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich’s ataxiaHum Mol Genet200918132452246119376812
- MarmolinoDMantoMAcquavivaFPGC-1alpha down-regulation affects the antioxidant response in Friedreich’s ataxiaPLoS One201054e1002520383327
- MarmolinoDAcquavivaFPinelliMPPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich’s ataxia therapyCerebellum2009829810319104905
- KontoghiorghesGJEfstathiouAKleanthousMMichaelidesYKolnagouARisk/benefit assessment, advantages over other drugs and targeting methods in the use of deferiprone as a pharmaceutical anti-oxidant in iron loading and non iron loading conditionsHemoglobin200933538639719814684
- RichardsonDRFriedreich’s ataxia: iron chelators that target the mitochondrion as a therapeutic strategy?Expert Opin Investig Drugs2003122235245
- KakhlonOManningHBreuerWCell functions impaired by frataxin deficiency are restored by drug-mediated iron relocationBlood2008112135219522718796625
- GoncalvesSPaupeVDassaEPRustinPDeferiprone targets aconitase: implication for Friedreich’s ataxia treatmentBMC Neurol 200882018558000
- LiKBesseEKHaDKovtunovychGRouaultTAIron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxiaHum Mol Genet200817152265227318424449
- JauslinMLWirthTMeierTSchoumacherFA cellular model for Friedreich ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategyHum Mol Genet200211243055306312417527
- JauslinMLMeierTSmithRAMurphyMPMitochondria-targeted antioxidants protect Friedreich ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidantsFASEB J200317131972197412923074
- CochemeHMKelsoGFJamesAMMitochondrial targeting of quinones: therapeutic implicationsMitochondrion20077SupplS94S10217449335
- SeznecHSimonDMonassierLIdebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxiaHum Mol Genet200413101017102415028670
- HebertMDTargeting the gene in Friedreich ataxiaBiochimie20089081131113918206656
- FlemingJSpinoulasAZhengMPartial correction of sensitivity to oxidant stress in Friedreich ataxia patient fibroblasts by frataxinencoding adeno-associated virus and lentivirus vectorsHum Gene Ther200516894795616076253
- Gomez-SebastianSGimenez-CassinaADiaz-NidoJLimFWade-MartinsRInfectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich’s ataxia deficiency in human cellsMol Ther200715224825417235301
- LimFPalomoGMMauritzCFunctional recovery in a Friedreich’s ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vectorMol Ther20071561072107817375064
- BurnettRMelanderCPuckettJWDNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA. TTC repeats in Friedreich’s ataxiaProc Natl Acad Sci U S A200610331114971150216857735
- GrantLSunJXuHSubramonySHChairesJBHebertMDRational selection of small molecules that increase transcription through the GAA repeats found in Friedreich’s ataxiaFEBS Lett2006580225399540516989817
- HermanDJenssenKBurnettRSoragniEPerlmanSLGottesfeldJMHistone deacetylase inhibitors reverse gene silencing in Friedreich‘s ataxiaNat Chem Biol200621055155816921367
- SarseroJPLiLWardanHSitteKWilliamsonRIoannouPAUpregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxiaJ Gene Med200351728112516053
- RaiMSoragniEChouCJTwo new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich’s ataxia patients and in a mouse modelPLoS One201051e882520098685
- XuCSoragniEChouCJChemical probes identify a role for histone deacetylase 3 in Friedreich’s ataxia gene silencingChem Biol200916998098919778726
- RaiMSoragniEJenssenKHDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse modelPLoS One200834e195818463734
- Gonzalez-CaboPRosSPalauFFlavin adenine dinucleotide rescues the phenotype of frataxin deficiencyPLoS One201051e887220111601
- Di ProsperoNASumnerCJPenzakSRRavinaBFischbeckKHTaylorJPSafety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxiaArch Neurol200764680380817562928
- MeierTBuyseGIdebenone: an emerging therapy for Friedreich ataxiaJ Neurol2009256Suppl 1253019283347
- BodmerMVankanPDreierMKutzKWDreweJPharmacokinetics and metabolism of idebenone in healthy male subjectsEur J Clin Pharmacol200965549350119125241
- SchulzJBDehmerTScholsLOxidative stress in patients with Friedreich ataxiaNeurology200055111719172111113228
- CooperJMSchapiraAHFriedreich’s ataxia: coenzyme Q10 and vitamin E therapyMitochondrion20077SupplS127S13517485244
- RustinPRotigAMunnichASidiDHeart hypertrophy and function are improved by idebenone in Friedreich’s ataxiaFree Radic Res200236446746912069112
- HausseAOAggounYBonnetDIdebenone and reduced cardiac hypertrophy in Friedreich’s ataxiaHeart200287434634911907009
- MariottiCSolariATortaDMaranoLFiorentiniCDi DonatoSIdebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trialNeurology200360101676167912771264
- Di ProsperoNABakerAJeffriesNFischbeckKHNeurological effects of high-dose idebenone in patients with Friedreich’s ataxia: a randomised, placebo-controlled trialLancet Neurol200761087888617826341
- ArtuchRAracilAMasAFriedreich’s ataxia: idebenone treatment in early stage patientsNeuropediatrics200233419019312368988
- PinedaMArpaJMonteroRIdebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-upEur J Paediatr Neurol200812647047518234531
- HartPELodiRRajagopalanBAntioxidant treatment of patients with Friedreich ataxia: four-year follow-upArch Neurol200562462162615824263
- CooperJMKorliparaLVHartPEBradleyJLSchapiraAHCoenzyme Q10 and vitamin E deficiency in Friedreich’s ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapyEur J Neurol200815121371137919049556
- PandolfoMDrug insight: antioxidant therapy in inherited ataxiasNat Clin Pract Neurol200842869618256680
- OrsucciDFilostoMSicilianoGMancusoMElectron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunctionNutr Rev200967842743819674340
- BjelakovicGNikolovaDGluudLLSimonettiRGGluudCMortality in randomized trials of antioxidant supplements for primary and secondary prevention: systematic review and meta-analysisJAMA2007297884285717327526
- ScholsLZangeJAbeleML-carnitine and creatine in Friedreich’s ataxia. A randomized, placebo-controlled crossover trialJ Neural Transm2005112678979615480852
- AcquavivaFCastaldoIFillaARecombinant human erythropoietin increases frataxin protein expression without increasing mRNA expressionCerebellum20087336036518581197
- SturmBStupphannDKaunCRecombinant human erythropoietin: effects on frataxin expression in vitroEur J Clin Invest2005351171171716269021
- SirenALFasshauerTBartelsCEhrenreichHTherapeutic potential of erythropoietin and its structural or functional variants in the nervous systemNeurotherapeutics20096110812719110203
- BoeschSSturmBHeringSGoldenbergHPoeweWScheiber-MojdehkarBFriedreich’s ataxia: clinical pilot trial with recombinant human erythropoietinAnn Neurol200762552152417702040
- BoeschSSturmBHeringSNeurological effects of recombinant human erythropoietin in Friedreich’s ataxia: a clinical pilot trialMov Disord200823131940194418759345
- FinstererJOverview on visceral manifestations of mitochondrial disordersNeth J Med2006643617116547358
- BensmailDQuera SalvaMARocheNEffect of intrathecal baclofen on sleep and respiratory function in patients with spasticityNeurology20066781432143617060570
- TrouillasPSerratriceGLaplaneDLevorotatory form of 5-hydroxytryptophan in Friedreich’s ataxia. Results of a double-blind drug-placebo cooperative studyArch Neurol19955254564607733839
- RistoriGRomanoSViscontiARiluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trialNeurology2010741083984520211908
- IlgWSynofzikMBrotzDBurkardSGieseMAScholsLIntensive coordinative training improves motor performance in degenerative cerebellar diseaseNeurology200973221823183019864636
- MaringJRCroarkinEPresentation and progression of Friedreich ataxia and implications for physical therapist examinationPhys Ther200787121687169617911272
- FillyawMJAdesPAEndurance exercise training in Friedreich ataxiaArch Phys Med Rehabil198970107867882802961
- GoulipianCBensoussanLVitonJMMilhe-De BovisVRamonJDelarqueAOrthopedic shoes improve gait in Friedreich’s ataxia: a clinical and quantified case studyEur J Phys Rehabil Med2008441939818385634
- DelatyckiMBHolianACorbenLSurgery for equinovarus deformity in Friedreich’s ataxia improves mobility and independenceClin Orthop Relat Res200543013814115662315
- SchulzJBBoeschSBurkKDiagnosis and treatment of Friedreich ataxia: a European perspectiveNat Rev Neurol20095422223419347027
- PuccioHMulticellular models of Friedreich ataxiaJ Neurol2009256Suppl 1182419283346