1996;335(16):1169–1175.
156.BabcockM,deSilvaD,OaksR,etal.
Regulationofmitochondrialironaccumulation
byyfh1p,aputativehomologoffrataxin.
Science.1997;276(5319):1709–1712.
157.PuccioH,SimonD,CosseeM,etal.Mouse
modelsforfriedreichataxiaexhibit
cardiomyopathy,sensorynervedefectandFe-S
enzymedeficiencyfollowedby
intramitochondrialirondeposits.NatGenet.
2001;27(2):181–186.
158.PerdominiM,BelbellaaB,MonassierL,etal.
Preventionandreversalofseveremitochondrial
cardiomyopathybygenetherapyinamouse
modelofFriedreich'sataxia.NatMed.
2014;20(5):542–547.
159.RotigA,deLonlayP,ChretienD,etal.
Aconitaseandmitochondrialiron-sulphur
proteindeficiencyinfriedreichataxia.Nat
Genet.1997;17(2):215–217.
160.RegnerSR,LagedrostSJ,PlappertT,etal.
Analysisofechocardiogramsinalarge
heterogeneouscohortofpatientswithfriedreich
ataxia.AmJCardiol.2012;109(3):401–405.
161.KippsA,AlexanderM,ColanSD,etal.The
longitudinalcourseofcardiomyopathyin
Friedreich'sataxiaduringchildhood.Pediatr
Cardiol.2009;30(3):306–310.
162.RamanSV,PhatakK,HoyleJC,etal.Impaired
myocardialperfusionreserveandfibrosisin
friedreichataxia:amitochondrial
cardiomyopathywithmetabolicsyndrome.Eur
HeartJ.2011;32(5):561–567.
163.WeidemannF,RummeyC,BijnensB,etal.The
heartinfriedreichataxia:definitionof
cardiomyopathy,diseaseseverity,and
correlationwithneurologicalsymptoms.
Circulation.2012;125(13):1626–1634.
164.PoussetF,LegrandL,MoninML,etal.A22yearFollow-upstudyofLong-termcardiac
outcomeandpredictorsofsurvivalinfriedreich
ataxia.JAMANeurol.2015;72(11):1334–1341.
165.MottramPM,DelatyckiMB,DonelanL,etal.
Earlychangesinleftventricularlong-axis
functioninfriedreichataxia:relationwiththe
FXNgenemutationandcardiacstructural
change.JAmSocEchocardiogr.
2011;24(7):782–789.
166.ReetzK,DoganI,CostaAS,etal.Biological
andclinicalcharacteristicsoftheEuropean
Friedreich'sataxiaconsortiumfortranslational
studies(EFACTS)cohort:across-sectional
analysisofbaselinedata.LancetNeurol.
2015;14(2):174–182.
167.CorbenLA,LynchD,PandolfoM,etal.
Consensusclinicalmanagementguidelinesfor
friedreichataxia.OrphanetJRareDis.
2014;9:184.
168.KearneyM,OrrellRW,FaheyM,BrassingtonR,
PandolfoM.Pharmacologicaltreatmentsfor
friedreichataxia.CochraneDatabaseSystRev.
2016;(8)[CD007791].
169.MariottiC,SolariA,TortaD,etal.Idebenone
treatmentinfriedreichpatients:one-year-long
randomizedplacebo-controlledtrial.Neurology.
2003;60(10):1676–1679.
170.LagedrostSJ,SuttonMS,CohenMS,etal.
Idebenoneinfriedreichataxiacardiomyopathyresultsfroma6-monthphaseIIIstudy(IONIA).
AmHeartJ.2011;161(3):639–645.e1.
171.CooperJM,KorliparaLV,HartPE,BradleyJL,
SchapiraAH.Coenzymeq10andvitaminE
deficiencyinFriedreich'sataxia:predictorof
efficacyofvitaminEandcoenzymeq10therapy.
EurJNeurol.2008;15(12):1371–1379.
172.Elincx-BenizriS,GlikA,MerkelD,etal.
Clinicalexperiencewithdeferipronetreatment
forfriedreichataxia.JChildNeurol.
2016;31(8):1036–1040.
173.ColucciWS,LorellBH,SchoenFJ,WarholMJ,
GrossmanW.Hypertrophicobstructive