Articles dans des revues avec comité de lecture (263)
  1. 145. Bertelli, M., Cecchin, S., Lapucci, C., De Gemmis, P., Danieli, D., d'Amore, E. S. G., Buttolo, L., Giunta, F., Mortini, P., & Pandolfo, M. (2007). Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue. Biochimica et biophysica acta, 1772(1), 15-20. doi:10.1016/j.bbadis.2006.10.015
  2. 146. Abboud, S., Karhunen, P. J., Lütjohann, D., Goebeler, S., Luoto, T., Friedrichs, S., Lehtimaki, T., Pandolfo, M., & Laaksonen, R. (2007). Proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is a risk factor of large-vessel atherosclerosis stroke. PloS one, 2(10), e1043. doi:10.1371/journal.pone.0001043
  3. 147. Bertelli, M., Cecchin, S., Lapucci, C., Jacomelli, G., Jinnah, H. A., Pandolfo, M., & Micheli, V. (2006). Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease). Clinica chimica acta, 373(1-2), 104-107. doi:10.1016/j.cca.2006.05.013
  4. 148. Jansen, A., Sancak, O., D'Agostino, M. D., Badhwar, A., Roberts, P., Gobbi, G., Wilkinson, R., Melanson, D., Tampieri, D., Koenekoop, R., Gans, M., Maat-Kievit, A., Goedbloed, M., van den Ouweland, A. M. W., Nellist, M., Pandolfo, M., McQueen, M., Sims, K., Thiele, E. A., Dubeau, F., Andermann, F., Kwiatkowski, D. J., Halley, D. J. J., & Andermann, E. (2006). Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Annals of neurology, 60(5), 528-539. doi:10.1002/ana.21037
  5. 149. De Gemmis, P., Lapucci, C., Bertelli, M., Tognetto, A., Fanin, E., Vettor, R., Pagano, C., Pandolfo, M., & Fabbri, A. (2006). A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cells. Stem cells and development, 15(5), 719-728. doi:10.1089/scd.2006.15.719
  6. 150. Metzger, S., Bauer, P., Tomiuk, J., Laccone, F., Didonato, S., Gellera, C., Mariotti, C., Lange, H. W., Weirich-Schwaiger, H., Wenning, G. K., Seppi, K., Melegh, B., Havasi, V., Balikó, L., Wieczorek, S., Zaremba, J., Hoffman-Zacharska, D., Sulek, A., Basak, A. N., Soydan, E., Zidovska, J., Kebrdlova, V., Pandolfo, M., Ribaï, P., Kadasi, L., Kvasnicova, M., Weber, B. H. F., Kreuz, F., Dose, M., Stuhrmann, M., & Riess, O. (2006). Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Human genetics, 120(2), 285-292. doi:10.1007/s00439-006-0221-2
  7. 151. Bertelli, M., Cecchin, S., Lorusso, L., Sidoti, V., Fabbri, A., Lapucci, C., Buda, A., & Pandolfo, M. (2006). Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis. Panminerva medica, 48(3), 193-197.
  8. 152. Sirén, A., Legros, B., Chahine, L., Misson, J.-P., & Pandolfo, M. (2006). Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation. Neurology, 67(1), 137-139. doi:10.1212/01.wnl.0000223347.73493.af
  9. 153. Schmitz-Hübsch, T., du Montcel, S. T., Baliko, L., Berciano, J., Boesch, S., Depondt, C., Giunti, P., Globas, C., Infante, J., Kang, J.-S., Kremer, B., Mariotti, C., Melegh, B., Pandolfo, M., Rakowicz, M., Ribai, P., Rola, R., Schöls, L., Szymanski, S., van de Warrenburg, B. P., Dürr, A., Klockgether, T., & Fancellu, R. (2006). Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology, 66(11), 1717-1720. doi:10.1212/01.wnl.0000219042.60538.92
  10. 154. Coppola, G., Choi, S.-H., Santos, M. M., Miranda, C., Tentler, D., Wexler, E. M., Pandolfo, M., & Geschwind, D. H. (2006). Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration. Neurobiology of disease, 22(2), 302-311. doi:10.1016/j.nbd.2005.11.014
  11. 155. Crippa, F., Panzeri, C., Martinuzzi, A., Arnoldi, A., Redaelli, F., Tonelli, A., Baschirotto, C., Vazza, G., Mostacciuolo, M. L., Daga, A., Orso, G., Profice, P., Trabacca, A., D'Angelo, M. G., Comi, G. P., Galbiati, S., Lamperti, C., Bonato, S., Pandolfo, M., Meola, G., Musumeci, O., Toscano, A., Trevisan, C. P., Bresolin, N., & Bassi, M. T. (2006). Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. Archives of neurology, 63(5), 750-755. doi:10.1001/archneur.63.5.750
  12. 156. Bertelli, M., Gallo, S., Buda, A., Cecchin, S., Fabbri, A., Lapucci, C., Andrighetto, G., Sidoti, V., Lorusso, L., & Pandolfo, M. (2006). Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. Journal of clinical neuroscience, 13(4), 443-448. doi:10.1016/j.jocn.2005.03.039
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