Articles dans des revues avec comité de lecture (263)
50.
Igoillo Esteve, M., Gurgul-Convey, E., Hu, A., Romagueira Bichara Dos Santos, L. R., Abdulkarim, B., Chintawar, S., Marselli, L., Jonas, J.-C. J., Eizirik, D. L., Pandolfo, M., & Cnop, M. (2015). Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich’s ataxia. Human molecular genetics, 24, 2274-86. doi:10.1093/hmg/ddu74551.
Quaglio, G., Karapiperis, T., McGuinness, M., Rübig, P., Nutt, D., Pandolfo, M., & Südhof, T. C. (2015). Building bridges between neuroscientific evidence and policy. Lancet neurology, 14(3), 242-245. doi:10.1016/S1474-4422(15)70014-152.
Filipovic Pierucci, A., Tezenas du Montcel, S., Dürr, A., Mariotti, C., Panzeri, M., Giunti, P., Boesch, S., Schulz, J. B., & Pandolfo, M. (2015). Quantifiable evaluation of cerebellar signs in children. Neurology, 84(12), 1225-1232. doi:10.1212/WNL.000000000000140353.
Reetz, K., Dogan, I., Costa, A. S., Dafotakis, M., Fedosov, K., Schulz, J. B., Giunti, P., Parkinson, M. M., Sweeney, M. M., Mariotti, C., Panzeri, M., Nanetti, L., Arpa, J., Sanz-Gallego, I., Dürr, A., Charles, P., Boesch, S., Nachbauer, W., Klopstock, T., Karin, I., Depondt, C., Pandolfo, M., vom Hagen, J. M., Schöls, L., Giordano, I. A., Klockgether, T., & Bürk, K. (2015). Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: A cross-sectional analysis of baseline data. Lancet neurology, 14(2), 174-182. doi:10.1016/S1474-4422(14)70321-754.
Corben, L. L., Delatycki, M. M., Lynch, D., Pandolfo, M., & Schulz, J. B. (2015). Consensus clinical management guidelines for Friedreich ataxia. Orphanet journal of rare diseases, 9(1), 184. doi:10.1186/s13023-014-0184-755.
Soragni, E., Miao, W., Iudicello, M., Jacoby, D., De Mercanti, S., Clerico, M., Longo, F., Piga, A., Ku, S., Campau, E., Du, J., Penalver, P., Rai, M., Madara, J. C., Nazor, K., O'Connor, M., Maximov, A., Loring, J. F., Pandolfo, M., Durelli, L., Gottesfeld, J. M., & Rusche, J. R. (2014). Epigenetic therapy for Friedreich ataxia. Annals of neurology, 76(4), 489-508. doi:10.1002/ana.2426056.
Pandolfo, M., Arpa, J., Delatycki, M. B., Le Quan Sang, K. H., Mariotti, C., Munnich, A., Sanz-Gallego, I., Tai, G., Tarnopolsky, M. A., Taroni, F., Spino, M., & Tricta, F. (2014). Deferiprone in Friedreich ataxia: A 6-Month randomized controlled trial. Annals of neurology, 76(4), 509-521. doi:10.1002/ana.2424857.
Depondt, C., Donatello, S., Simonis, N., Rai, M., Van Heurck, R., Abramowicz, M., D'Hooghe, M., & Pandolfo, M. (2014). Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology. doi:10.1212/WNL.000000000000041659.
Corben, L., Lynch, D. R., Pandolfo, M., Schulz, J. B., Delatycki, M. B., Balcer, L., Bartek, R., Bates, C., Campagna, E., Cnop, M., Dürr, A., Emmanuel, A., Farmer, J., Flynn, J., Friedman, L. S., Giunti, P., Hadjivassiliou, M., Ho, M., Isaya, G., Kearney, M., Loucas, M., Marotti, C., Milne, S., Morlet, T., McGarry, A., Panicker, J., Parkinson, M. M., Payne, R. M., Peverill, R., Rance, G., Rodriguez, L., Schadt, K., Seyer, L., Subramony, S., Sullivan, K., Vogel, A., Yiu, E., Yoon, G., & Zesiewicz, T. (2014). Consensus clinical management guidelines for Friedreich ataxia. Orphanet journal of rare diseases, 9, 184. doi:10.1186/s13023-014-0184-760.
du Montcel, S. T., Dürr, A., Cazeneuve, C., Brice, A., Stevanin, G., Forlani, S., Camuzat, A., Bauer, P., Riess, O., Figueroa, K. P., Pulst, S. M., Ichikawa, Y., Goto, J., Tsuji, S., Brussino, A., Brusco, A., Rakowicz, M., Schöls, L., Mariotti, C., van de Warrenburg, B. P. C., Orsi, L., Giunti, P., Filla, A., Szymanski, S., Klockgether, T., Berciano, J., Pandolfo, M., Boesch, S., Melegh, B., Timmann, D., Mandich, P., & Ashizawa, T. (2014). Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain, 137(9), 2444-2455. doi:10.1093/brain/awu174