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Bibliographie complète sur référence 229300
National center for Biotechnology Information :
Mendelian Inheritance in Man
Sélection
Ben Hamida, C., Doerflinger, N., Belal, S., Linder, C., Reutenauer, L., Dib, C., Gyapay, G., Vignal, A., Le
Paslier, D., Cohen, D., Pandolfo, M., Mokini, V., Novelli, G., Hentati, F., Ben Hamida, M., Mandel, J. L., and
Koenig, M. (1993). "Localization of friedreich ataxia phenotype with selective vitamine deficiency to chromosome
8q by homozygosity mapping." Nat Genet, 5, 195-200.
Rodius, F., Duclos, F., Wrogemann, K., Le Paslier, D., Ougen, P., Billault, A., Belal, S., Musenger, C., Brice, A., Dürr, A., Mignard, C., Sirugo, G., Weissenbach, J., Cohen, D., Hentati, F., Ben Hamida, M., Mandel, J. L., and Koenig, M. (1994). "Recombinations in individuals homozygous by descent localize the friedreich ataxia locus in a cloned 450-kb interval." Am J Hum Genet, 54, 1050-1059.
Montermini, L., Rodius, F., Pianese, L., Molto, M. D., Cossée, M., Campuzano, V., Cavalcanti, F., Monticelli, A., Palau, F., Gyapay, G., Wenhert, M., Zara, F., Patel, P. I., Cocozza, S., Koenig, M., and Pandolfo, M. (1995). "The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13." Am J Hum Genet, 57, 1061-1067.
Victoria Campuzano, Laura Montermini, Maria Dolores Moltò, Luigi Pianese, Mireille Cossée, Francesca Cavalcanti, Eugenia Monros, François Rodius, Frank Duclos, Antonella Monticelli, Federico Zara, Joaquin Canizares, Hana Koutnikova, Sanjay Bidichandani, Cinzia Gellera, Alexis Brice, Paul Trouillas, Giuseppe De Michele, Alessandro Filla, Rosa De Frutos, Francisco Palau, Pragna I. Patel, Stefano Di Donato, Jean-Louis Mandel, Sergio Cocozza, Michel Koenig et Massimo Pandolfo, "Friedreich Atatxia : autosomal recessive disease caused by an intronic GAA triplet repeat expansion" Science le 8 mars 1996.
Koutnikova H, Campuzano V, Foury F, Dollé P, Cazzalini O, Koenig M: Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nature Genet 1997, 16:345-351.
Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P, Authier FJ, Dürr A, Mandel J-L, Vescovi AL, Pandolfo M, Koenig M: Frataxin is reduced in Friedreich ataxia patient and is associated with mitochondrial membranes. Hum Mol Genet 1997, 6:1771-1780.
Babcock M, de Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, Pandolfo M, Kaplan J: Regulation of mitochondrial iron accumulation by Yfh1, a putative homolog of frataxin. Science 1997, 276:1709-1712.
Carvajal J, Pook MA, Doudney K, Hillermann R, Wilkes D, Al-Mahdawi S, Williamson R, Chamberlain S: Friedreich ataxia: a defect in signal transduction? Hum Mol Genet 1995, 4:1411-1419.
Carvajal J, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S: The Friedreich's ataxia gene encodes a novel phophatidylinositol -4- phosphate 5-kinase. Nature Genet 1996, 14:157-162.
Foury F, Cazzalini O: Deletion of the yeast homologue of the human gene associated with Friedeich's ataxia elicits iron accumulation in mitochondria. FEBS Lett 1997, 411:373-377.
Wilson RB, Roof DM: Respiration deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nature Genet 1997, 16:352-357.
Lamarche JB, Shapcott D, Côté M, Lemieux B: Cardiac iron deposits in Friedreich's ataxia. In Handbook of cerebellar diseases, 1st edn. edited by Lechtenberg R. New York: Marcel Dekker; 1993:453-458.
Rötig A, de Lonlay P, Chrétien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P: Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nature Genet 1997, 17:215-217.
Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel J-L, Koenig M: Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations. Proc Natl Acad Sci U S A 1997, 94:7452-7457.
Epplen C, Epplen JT, Frank G, Miterski B, Santos EJM, Schöls L: Differential stability of the (GAA)n tract in the Friedreich ataxia gene. Hum Genet 1997, 99:834-836.
Montermini L, Andermann E, 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, 6:1261-1266.
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