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et al Mutations in the skeletal muscle alphaactin gene in patients with actin myopathy and nemaline myopathy Nat Genet 1999;23(2):208– 212 263 Friedreich's ataxia: from disease mechanisms to therapeutic interventions Antioxid Redox Signal 2006;8(3–4):438–443 264 Stehling O, Elsasser HP, Bruckel B, Muhlenhoff U, Lill R Iron-sulfur protein maturation in human cells: evidence for function of frataxin Hum Mol Genet 2004;13(23):3007–3015 265 Ackroyd RS, Finnegan JA, Green SH Friedreich's ataxia A clinical review with neurophysiological and echocardiographic findings Arch Dis Child 1984;59:217–221 266 Harding AE, Hewer RL The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases Q J Med 1983;52(208):489–502 267 Filla A, DeMichele G, Cavalcanti F, et al The relationship between trinucleotide (GAA) repeat length and clinical features in friedreich ataxia Am J Hum Genet 1996;59(3):554–560 268 Michael S, Petrocine SV, Qian J, et al Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia Cerebellum 2006;5(4):257–267 269 Pentland B, Fox KA The heart in Friedreich's ataxia J Neurol Neurosurg Psychiatry 1983;46(12):1138–1142 270 Albano LM, Nishioka SA, Moyses RL, et al Friedreich's taxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review Arq Bras Cardiol 2002;78(5):444–451 271 Rustin P, von Kleist-retzow JC, ChantrelGroussard K, et al Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study Lancet 1999;354(9177):477– 479 272 Hausse AO, Aggoun Y, Bonnet D, et al Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia Heart 2002;87(4):346–349 273 Buyse G, Mertens L, Di Salvo G, et al Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring Neurology 2003;60(10):1679–1681 274 Lebenthal E, Shochet SB, Adam A, et al Arthrogryposis multiplex congenita: twentythree cases in an arab kindred Pediatrics 1970;46(6):891–899 275 Jaber L, Weitz R, Bu X, et al Arthrogryposis multiplex congenita in an arab kindred: update Am J Med Genet 1995;55(3):331–334 276 Ibid 226 277 Obarski TP, Fardal PM, Bush CR, Leier CV Stenotic aortic and mitral valves in three adult brothers with arthrogryposis multiplex congenita Am J Cardiol 2005;96(3):464–466 278 Kleopa KA, Scherer SS Molecular genetics of X-linked Charcot-marie-tooth disease Neuromolecular Med 2006;8(1–2):107–122 279 Lowry PJ, Little WA Peroneal muscular atrophy associated with cardiac conducting tissue disease: further observations Postgrad Med J 1983;59(694):530–532 280 Bowers D Charcot-marie-tooth disease, Wolffparkinson-white syndrome, and abnormal intracardiac conduction Am Heart J 1973;86(4):535–538 281 Littler WA Heart block and peroneal muscular atrophy Q J Med 1970;155:431–439 282 Corrado G, Checcarelli N, Santarone M, Stollberger C, Finsterer J Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-marie-tooth disease type 1A Cardiology 2006;105(3):142–145 283 Thomas PK Overview of Charcot-marie-tooth disease type 1A Ann N Y Acad Sci 1999;883:1– ... Lebenthal E, Shochet SB, Adam A, et al Arthrogryposis multiplex congenita: twentythree cases in an arab kindred Pediatrics 1970;46(6):891–899 275 Jaber L, Weitz R, Bu X, et al Arthrogryposis multiplex congenita in an arab kindred: update... hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-marie-tooth disease type 1A Cardiology 2006;105(3):142–145 283 Thomas PK Overview of Charcot-marie-tooth disease type 1A Ann N Y Acad Sci

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