Articles dans des revues avec comité de lecture (262)
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McNeill, A., Pandolfo, M., Kuhn, J., Shang, H., & Miyajima, H. (2008). The neurological presentation of ceruloplasmin gene mutations. European neurology, 60(4), 200-205. doi:10.1159/000148691134.
De Windt, A., Rai, M., Bernier, L., Thelen, K. M., Soini, J., Lefebvre, C., Chintawar, S., Lavigne, J., Saarinen, L., Kytömäki, L., Munzer, J. S., Lütjohann, D., Pandolfo, M., Davignon, J., Seidah, N. G., & Laaksonen, R. (2007). Gene set enrichment analysis reveals several globally affected pathways due to SKI-1/S1P inhibition in HepG2 cells. DNA and cell biology, 26(11), 765-772. doi:10.1089/dna.2007.0624135.
Cavalleri, G. L., Weale, M. E., Shianna, K. V., Singh, R., Lynch, J. M., Grinton, B., Szoeke, C., Murphy, K., Kinirons, P., O'Rourke, D., Ge, D., Depondt, C., Claeys, K. G., Pandolfo, M., Gumbs, C., Walley, N., McNamara, J., Mulley, J. C., Linney, K. N., Sheffield, L. J., Radtke, R. A., Tate, S. K., Chissoe, S. L., Gibson, R. A., Hosford, D., Stanton, A., Graves, T. D., Hanna, M. G., Eriksson, K., Kantanen, A.-M., Kalviainen, R., O'Brien, T. J., Sanders, J., Duncan, J. S., Scheffer, I. E., Berkovic, S. F., Wood, N. W., Doherty, C. P., Delanty, N., Sisodiya, S. M., & Goldstein, D. B. (2007). Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet neurology, 6(11), 970-980. doi:10.1016/S1474-4422(07)70247-8136.
De Windt, A., Rai, M., Kytömäki, L., Thelen, K. M., Lütjohann, D., Bernier, L., Davignon, J., Soini, J., Pandolfo, M., & Laaksonen, R. (2007). Gene set enrichment analyses revealed several affected pathways in Niemann-pick disease type C fibroblasts. DNA and cell biology, 26(9), 665-671. doi:10.1089/dna.2006.0570137.
Goold, R., Hubank, M., Hunt, A., Holton, J., Menon, R. P., Revesz, T., Pandolfo, M., & Matilla-Dueñas, A. (2007). Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1. Human molecular genetics, 16(17), 2122-2134. doi:10.1093/hmg/ddm162138.
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). Corrigendum to "Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue" [Biochim. Biophys. Acta 1772 (2007) 15-20] (DOI:10.1016/j.bbadis.2006.10.015). Biochimica et biophysica acta. Molecular basis of disease, 1772(9), 1117. doi:10.1016/j.bbadis.2006.10.020139.
Hedera, P., Blair, M. A., Andermann, E., Andermann, F., D'Agostino, D., Taylor, K. A., Chahine, L., Pandolfo, M., Bradford, Y., Haines, J. L., & Abou-Khalil, B. (2007). Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. Neurology, 68(24), 2107-2112. doi:10.1212/01.wnl.0000261246.75977.89140.
Manto, M., Laute, M.-A., Aguera, M., Rogemond, V., Pandolfo, M., & Honnorat, J. (2007). Effects of anti-glutamic acid decarboxylase antibodies associated with neurological diseases. Annals of neurology, 61(6), 544-551. doi:10.1002/ana.21123141.
Bruno, M. K., Lee, H.-Y., Auburger, G. W. J., Friedman, A., Nielsen, J. E., Lang, A. E., Bertini, E., Van Bogaert, P., Averyanov, Y., Hallett, M., Gwinn-Hardy, K., Sorenson, B., Pandolfo, M., Kwiecinski, H., Servidei, S., Fu, Y.-H., & Ptácek, L. J. (2007). Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology, 68(21), 1782-1789. doi:10.1212/01.wnl.0000262029.91552.e0143.
De Gemmis, P., Lapucci, C., Bertelli, M., Tognetto, A., Fanin, E., Vettor, R., Pagano, C., Pandolfo, M., & Fabbri, A. (2007). A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cells. Genetic Engineering and Biotechnology News, 27(5 SUPPL.), 18-25.144.
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