Articles dans des revues avec comité de lecture (263)

  1. 49. Hibar, D. D., Depondt, C., Pandolfo, M., et al. (2015). Common genetic variants influence human subcortical brain structures. Nature (London), 520(7546), 224-229. doi:10.1038/nature14101
  2. 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/ddu745
  3. 51. 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)70014-1
  4. 52. 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.0000000000001403
  5. 53. 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)70321-7
  6. 54. 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/s13023-014-0184-7
  7. 55. 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.24260
  8. 56. 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.24248
  9. 57. 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.0000000000000416
  10. 58. Naeije, G., Gaspard, N., Legros, B., Mavroudakis, N., & Pandolfo, M. (2014). Transient CNS Deficits and Migrainous Auras in Individuals Without a History of Headache. Headache. doi:10.1111/head.12307
  11. 59. 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/s13023-014-0184-7
  12. 60. 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

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