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Molecular Analysis of Friedreich's Ataxia in Macedonian Patients Cover

Molecular Analysis of Friedreich's Ataxia in Macedonian Patients

Open Access
|Nov 2008

References

  1. Pandolfo M. Molecular genetics and pathogenesis of Friedreich ataxia. Neuromuscul Disord 1998; 8(6): 409-415.10.1016/S0960-8966(98)00039-X
  2. Skre H. Friedreich's ataxia in Western Norway. Clin Genet 1975; 7(4): 287-298.10.1111/j.1399-0004.1975.tb00331.x1126051
  3. 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.x7337957
  4. 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/BF008675941512613
  5. 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/s0043900504589187683
  6. 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/104.3.5897272714
  7. 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.
  8. 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.38.8.12923041313
  9. 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.271.5254.14238596916
  10. 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.
  11. 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.94.14.7452238429207112
  12. 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/6.11.17719302253
  13. 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/6.8.12619259271
  14. 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/ng1097-2159326946
  15. 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.57.8.97710730868057123
  16. 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.4103703127695235
  17. 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.
Language: English
Page range: 61 - 64
Published on: Nov 12, 2008
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2008 S Kocheva, S Trivodalieva, S Vlaski-Jekic, M Kuturec, G Efremov, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 11 (2008): Issue 1 (June 2008)