Articles dans des revues avec comité de lecture (263)
  1. 217. Pandolfo, M., & Montermini, L. (1998). Prenatal diagnosis of Friedreich ataxia. Prenatal diagnosis, 18(8), 831-833. doi:10.1002/(SICI)1097-0223(199808)18:8<831::AID-PD437>3.0.CO;2-N
  2. 218. Pandolfo, M. (1998). Molecular genetics and pathogenesis of Friedreich ataxia. Neuromuscular disorders, 8(6), 409-415.
  3. 219. Zara, F., Labuda, M., Garofalo, P. G., Durisotti, C., Bianchi, A., Castellotti, B., Patel, P. I., Avanzini, G., & Pandolfo, M. (1998). Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy. Neurology, 51(2), 493-498.
  4. 220. Ohshima, K., Montermini, L., Wells, R. D., & Pandolfo, M. (1998). Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. The Journal of biological chemistry, 273(23), 14588-14595.
  5. 221. Campuzano, V., Montermini, L., Lutz, Y., Cova, L., Hindelang, C., Jiralerspong, S., Trottier, Y., Kish, S. J., Faucheux, B., Trouillas, P., Authier, F. J., Dürr, A., Mandel, J. L., Vescovi, A., Pandolfo, M., & Koenig, M. (1997). Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Human molecular genetics, 6(11), 1771-1780.
  6. 222. Geschwind, D. H., Perlman, S., Grody, W. W., Telatar, M., Montermini, L., Pandolfo, M., & Gatti, R. A. (1997). Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia. Neurology, 49(4), 1004-1009.
  7. 223. Gellera, C., Pareyson, D., Castellotti, B., Mazzucchelli, F., Zappacosta, B., Pandolfo, M., & di Donato, S. (1997). Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene. Neurology, 49(4), 1153-1155.
  8. 224. Montermini, L., Kish, S. J., Jiralerspong, S., Lamarche, J. B., & Pandolfo, M. (1997). Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system. Neurology, 49(2), 606-610.
  9. 225. 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. (1997). The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Human molecular genetics, 6(8), 1261-1266.
  10. 226. Babcock, M., de Silva, D., Oaks, R., Davis-Kaplan, S., Jiralerspong, S., Montermini, L., Pandolfo, M., & Kaplan, J. (1997). Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science, 276(5319), 1709-1712.
  11. 227. Montermini, L., Richter, A., Morgan, K., Justice, C. M., Julien, D., Castellotti, B., Mercier, J., Poirier, J., Capozzoli, F., Bouchard, J. P., Lemieux, B., Mathieu, J., Vanasse, M., Seni, M. H., Graham, G., Andermann, F., Andermann, E., Melançon, S. B., Keats, J. B., di Donato, S., & Pandolfo, M. (1997). Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Annals of neurology, 41(5), 675-682. doi:10.1002/ana.410410518
  12. 228. Cossée, M., Campuzano, V., Koutnikova, H., Fischbeck, K., Mandel, J. L., Koenig, M., Bidichandani, S. I., Patel, P. I., Moltè, M. D., Cañizares, J., de Frutos, R., Pianese, L., Cavalcanti, F., Monticelli, A., Cocozza, S., Montermini, L., & Pandolfo, M. (1997). Frataxin fracas. Nature genetics, 15(4), 337-338. doi:10.1038/ng0497-337
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