Molecular Analysis of Friedreich's Ataxia in Macedonian Patients

Pandolfo M. Molecular genetics and pathogenesis of Friedreich ataxia. Neuromuscul Disord 1998; 8(6): 409-415.10.1016/S0960-8966(98)00039-XSearch in Google Scholar

Skre H. Friedreich's ataxia in Western Norway. Clin Genet 1975; 7(4): 287-298.10.1111/j.1399-0004.1975.tb00331.x1126051Search in Google Scholar

Winter RM, Harding AE, Baraitser M, Bravery MB. Intrafamilial correlation in Friedreich's ataxia. Clin Genet 1981; 20(6): 419-427.10.1111/j.1399-0004.1981.tb01052.x7337957Search in Google Scholar

Filla A, De Michele G, Marconi R, Bucci L, Carillo C, Castellano AE, Iorio L, Kniahynicki C, Rossi F, Campanella G. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 1992; 239(6): 351-353.10.1007/BF008675941512613Search in Google Scholar

Epplen C, Epplen JT, Frank G, Miterski B, Santos EJM, Schols L. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 1997; 99(6): 834-836.10.1007/s0043900504589187683Search in Google Scholar

Harding AE. Friedreich's 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(3): 589-620.10.1093/brain/104.3.5897272714Search in Google Scholar

Harding AE, Hewer RL. The heart disease of Friedreich's ataxia: a clinical and electrocardio-graphic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases. Q J Med 1983; 52(208): 489-502.Search in Google Scholar

Finocchiaro G, Baio G, Micossi P, Pozza G, Di Donato S. Glucose metabolism alterations in Friedreich's ataxia. Neurology 1988; 38(8), 1292-1296.10.1212/WNL.38.8.12923041313Search in Google Scholar

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel J-L, Cocozza S, Koenig M, Pandolfo M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271(5254): 1423-1427.10.1126/science.271.5254.14238596916Search in Google Scholar

Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996; 59(3): 554-560.Search in Google Scholar

Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA 1997; 94(14): 7452-7457.10.1073/pnas.94.14.7452238429207112Search in Google Scholar

Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P, Authier FJ, Durr A, Mandel JL, Vescovi A, Pandolfo M, Koenig M. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997; 6(11): 1771-1780.10.1093/hmg/6.11.17719302253Search in Google Scholar

Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 1997; 6(8): 1261-1266.10.1093/hmg/6.8.12619259271Search in Google Scholar

Rotig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997; 17(2): 215-217.10.1038/ng1097-2159326946Search in Google Scholar

De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O. Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. J Neurol Neurosurg Psychiatry 1994; 57(8): 977-979.10.1136/jnnp.57.8.97710730868057123Search in Google Scholar

Palau F, De Michele G, Vilchez JJ, Pandolfo M, Monros E, Cocozza S, Smeyers P, Lopez-Arlandis J, Campanella G, Di Donato S, Filla A. Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann Neurol 1995; 37(3): 359-362.10.1002/ana.4103703127695235Search in Google Scholar

Efremov G D, Dimovski A J, Plaseska-Karanfilska D, Simjanovsa L, Sukarova E, Koceva S, Popovski Z. Laboratory Manual, 2nd ed. 1998. ICGEB Affilated Center "Nucleic acid based methods in human and veterinary medicine." Skopje: Macedonian Academy of Sciences and Arts, 1998.Search in Google Scholar