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Andersons pediatric cardiology 1592

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etal.Mutationsintheskeletalmusclealphaactingeneinpatientswithactinmyopathyand
nemalinemyopathy.NatGenet.1999;23(2):208–
212.
263.Friedreich'sataxia:fromdiseasemechanismsto
therapeuticinterventions.AntioxidRedoxSignal.
2006;8(3–4):438–443.
264.StehlingO,ElsasserHP,BruckelB,Muhlenhoff
U,LillR.Iron-sulfurproteinmaturationin
humancells:evidenceforfunctionoffrataxin.
HumMolGenet.2004;13(23):3007–3015.
265.AckroydRS,FinneganJA,GreenSH.
Friedreich'sataxia.Aclinicalreviewwith
neurophysiologicalandechocardiographic
findings.ArchDisChild.1984;59:217–221.
266.HardingAE,HewerRL.Theheartdiseaseof
Friedreich'sataxia:aclinicaland
electrocardiographicstudyof115patients,with
ananalysisofserialelectrocardiographic
changesin30cases.QJMed.
1983;52(208):489–502.
267.FillaA,DeMicheleG,CavalcantiF,etal.The
relationshipbetweentrinucleotide(GAA)repeat
lengthandclinicalfeaturesinfriedreichataxia.
AmJHumGenet.1996;59(3):554–560.
268.MichaelS,PetrocineSV,QianJ,etal.Ironand
iron-responsiveproteinsinthecardiomyopathy


ofFriedreich'sataxia.Cerebellum.
2006;5(4):257–267.
269.PentlandB,FoxKA.TheheartinFriedreich's


ataxia.JNeurolNeurosurgPsychiatry.
1983;46(12):1138–1142.
270.AlbanoLM,NishiokaSA,MoysesRL,etal.
Friedreich'staxia:cardiacevaluationof25
patientswithclinicaldiagnosisandliterature
review.ArqBrasCardiol.2002;78(5):444–451.
271.RustinP,vonKleist-retzowJC,ChantrelGroussardK,etal.Effectofidebenoneon
cardiomyopathyinFriedreich'sataxia:a
preliminarystudy.Lancet.1999;354(9177):477–
479.
272.HausseAO,AggounY,BonnetD,etal.
Idebenoneandreducedcardiachypertrophyin
Friedreich'sataxia.Heart.2002;87(4):346–349.
273.BuyseG,MertensL,DiSalvoG,etal.
IdebenonetreatmentinFriedreich'sataxia:
neurological,cardiac,andbiochemical
monitoring.Neurology.2003;60(10):1679–1681.
274.LebenthalE,ShochetSB,AdamA,etal.
Arthrogryposismultiplexcongenita:twentythreecasesinanarabkindred.Pediatrics.
1970;46(6):891–899.
275.JaberL,WeitzR,BuX,etal.Arthrogryposis
multiplexcongenitainanarabkindred:update.


AmJMedGenet.1995;55(3):331–334.
276.Ibid226.
277.ObarskiTP,FardalPM,BushCR,LeierCV.
Stenoticaorticandmitralvalvesinthreeadult
brotherswitharthrogryposismultiplex
congenita.AmJCardiol.2005;96(3):464–466.

278.KleopaKA,SchererSS.Moleculargeneticsof
X-linkedCharcot-marie-toothdisease.
NeuromolecularMed.2006;8(1–2):107–122.
279.LowryPJ,LittleWA.Peronealmuscularatrophy
associatedwithcardiacconductingtissue
disease:furtherobservations.PostgradMedJ.
1983;59(694):530–532.
280.BowersD.Charcot-marie-toothdisease,Wolffparkinson-whitesyndrome,andabnormal
intracardiacconduction.AmHeartJ.
1973;86(4):535–538.
281.LittlerWA.Heartblockandperonealmuscular
atrophy.QJMed.1970;155:431–439.
282.CorradoG,CheccarelliN,SantaroneM,
StollbergerC,FinstererJ.Leftventricular
hypertrabeculation/noncompactionwithPMP22
duplication-basedCharcot-marie-toothdisease
type1A.Cardiology.2006;105(3):142–145.
283.ThomasPK.OverviewofCharcot-marie-tooth
diseasetype1A.AnnNYAcadSci.1999;883:1–
5.



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