Articles dans des revues avec comité de lecture (263)
230.
Jiralerspong, S., Liu, Y., Montermini, L., Stifani, S., & Pandolfo, M. (1997). Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. Neurobiology of disease, 4(2), 103-113. doi:10.1006/nbdi.1997.0139231.
Taylor, T. D., Litt, M., Kramer, P., Pandolfo, M., Angelini, L., Nardocci, N., Davis, S., Pineda, M., Hattori, H., Flett, P. J., Cilio, M. R., Bertini, E., & Hayflick, S. J. (1996). Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nature genetics, 14(4), 479-481. doi:10.1038/ng1296-479232.
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Cañizares, J., Koutnikova, H., Bidichandani, S. I., Gellera, C., Brice, A., Trouillas, P., De Michele, G., Filla, A., de Frutos, R., Palau, F., Patel, P. I., di Donato, S., Mandel, J. L., Cocozza, S., Koenig, M., & Pandolfo, M. (1996). Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271(5254), 1423-1427.233.
Monrós, E., Cañizares, J., Moltó, M. D., Rodius, F., Montermini, L., Cossée, M., Martínez, F., Prieto, F., de Frutos, R., Koenig, M., Pandolfo, M., Bertranpetit, J., & Palau, F. (1996). Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population. European journal of human genetics, 4(4), 191-198.234.
Elsea, S. H., Juyal, R. C., Jiralerspong, S., Finucane, B. M., Pandolfo, M., Greenberg, F., Baldini, A., Stover, P., & Patel, P. I. (1995). Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. American journal of human genetics, 57(6), 1342-1350.235.
Montermini, L., Rodius, F., Pianese, L., Moltò, M., Cossée, M., Campuzano, V., Cavalcanti, F., Monticelli, A., Palau, F., Gyapay, G., Wenhert, M., Zara, F., Patel, P. I., Cocozza, S., Koenig, M., & Pandolfo, M. (1995). The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13. American journal of human genetics, 57(5), 1061-1067.236.
Zara, F., Bianchi, A., Avanzini, G., di Donato, S., Castellotti, B., Patel, P. I., & Pandolfo, M. (1995). Mapping of genes predisposing to idiopathic generalized epilepsy. Human molecular genetics, 4(7), 1201-1207.237.
Figuera, L. E., Pandolfo, M., Dunne, P. W., Cantú, J. M., & Patel, P. I. (1995). Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1. Nature genetics, 10(2), 202-207. doi:10.1038/ng0695-202238.
Doerflinger, N., Linder, C., Ouahchi, K., Gyapay, G., Weissenbach, J., Le Paslier, D., Rigault, P., Belal, S., Ben Hamida, C., Hentati, F., Ben Hamida, M., Pandolfo, M., di Donato, S., Sokol, R., Kayden, H., Landrieu, P., Dürr, A., Brice, A., Goutières, F., Kohlschütter, A., Sabouraud, P., Benomar, A., Yahyaoui, M., Mandel, J. L., & Koenig, M. (1995). Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. American journal of human genetics, 56(5), 1116-1124.239.
Palau, F., De Michele, G., Vilchez, J. J., Pandolfo, M., Monrós, E., Cocozza, S., Smeyers, P., Lopez-Arlandis, J., Campanella, G., & di Donato, S. (1995). Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Annals of neurology, 37(3), 359-362. doi:10.1002/ana.410370312240.
Lorenzetti, D., Pareyson, D., Sghirlanzoni, A., Roa, B. B., Abbas, N. E., Pandolfo, M., di Donato, S., & Lupski, J. R. (1995). A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. American journal of human genetics, 56(1), 91-98.