Articles dans des revues avec comité de lecture (263)
169.
D'Agostino, D., Bertelli, M., Gallo, S., Cecchin, S., Albiero, E., Garofalo, P. G., Gambardella, A., St Hilaire, J.-M., Kwiecinski, H., Andermann, E., & Pandolfo, M. (2004). Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. Neurology, 63(8), 1500-1502.170.
Berkovic, S. F., Serratosa, J. M., Phillips, H. A., Xiong, L., Andermann, E., Díaz-Otero, F., Gómez-Garre, P., Martín, M., Fernández-Bullido, Y., Andermann, F., Lopes-Cendes, I., Dubeau, F., Desbiens, R., Scheffer, I. E., Wallace, R. H., Mulley, J. C., & Pandolfo, M. (2004). Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia, 45(9), 1054-1060. doi:10.1111/j.0013-9580.2004.30502.x171.
Miranda, C., Santos, M. M., Ohshima, K., Tessaro, M., Sequeiros, J., & Pandolfo, M. (2004). Frataxin overexpressing mice. FEBS letters, 572(1-3), 281-288. doi:10.1016/j.febslet.2004.07.022172.
Ikeda, Y., Dalton, J. C., Moseley, M. L., Gardner, K. L., Bird, T. D., Ashizawa, T., Seltzer, W. K., Pandolfo, M., Milunsky, A., Potter, N. T., Shoji, M., Vincent, J. B., Day, J. W., & Ranum, L. P. W. (2004). Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. American journal of human genetics, 75(1), 3-16. doi:10.1086/422014173.
Unger, P., Stoupel, E., Shadfar, S., Pandolfo, M., & Blecic, S. (2004). Recurrent transient ischemic attacks in a patient with intrapulmonary arteriovenous shunting detected after closure of a patent foramen ovale. Journal of the American Society of Echocardiography, 17(7), 775-777. doi:10.1016/j.echo.2004.02.014174.
Monticelli, A., Giacchetti, M., De Biase, I., Pianese, L., Turano, M., Pandolfo, M., & Cocozza, S. (2004). New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation. Human genetics, 114(5), 458-463. doi:10.1007/s00439-004-1089-7175.
Gallo, S., Randi, D., Bertelli, M., Salviati, A., & Pandolfo, M. (2004). Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. Journal of neurology, neurosurgery and psychiatry, 75(4), 655-657.176.
Bier, J. C., Ventura, M., Donckels, V., Van Eyll, E., Claes, T., Slama, H., Fery, P., Vokaer, M., & Pandolfo, M. (2004). Is the Addenbrooke's cognitive examination effective to detect frontotemporal dementia? Journal of neurology, 251(4), 428-431. doi:10.1007/s00415-004-0345-z177.
Moreira, M.-C., Klur, S., Watanabe, M., Németh, A. H., Le Ber, I., Moniz, J.-C., Tranchant, C., Aubourg, P., Tazir, M., Schöls, L., Pandolfo, M., Schulz, J. B., Pouget, J., Calvas, P., Shizuka-Ikeda, M., Shoji, M., Tanaka, M., Izatt, L., Shaw, C. E., M'Zahem, A., Dunne, E., Bomont, P., Benhassine, T., Bouslam, N., Stevanin, G., Brice, A., Guimarães, J., Mendonça, P., Barbot, C., Coutinho, P., Sequeiros, J., Dürr, A., Warter, J.-M., & Koenig, M. (2004). Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature genetics, 36(3), 225-227. doi:10.1038/ng1303178.
Haemers, I., Kono, S., Goldman, S., Gitlin, J. D., & Pandolfo, M. (2004). Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia. Journal of neurology, neurosurgery and psychiatry, 75(2), 334-337.179.
Bertelli, M., Randi, D., Micheli, V., Gallo, S., Andrighetto, G., Parmigiani, P., Jacomelli, G., Carella, M., Lievore, C., & Pandolfo, M. (2004). Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. Journal of inherited metabolic disease, 27(6), 767-773. doi:10.1023/B:BOLI.0000045799.78633.23