Articles dans des revues avec comité de lecture (263)
  1. 37. Pandolfo, M. (2017). This variant alters protein function, but is it pathogenic? Neurology: Genetics, 3(4). doi:10.1212/NXG.0000000000000173
  2. 38. Reetz, K., Schöls, L., Klockgether, T., Bürk, K., Rai, M., Pandolfo, M., Schulz, J. B., Dogan, I., Hilgers, R. D., Giunti, P., Mariotti, C., Dürr, A., Boesch, S., Klopstock, T., & de Rivera, F. J. R. (2016). Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study. Lancet neurology, 15(13), 1346-1354. doi:10.1016/S1474-4422(16)30287-3
  3. 39. Codazzi, F., Hu, A., Rai, M., Donatello, S., Scarzella, F. S., Mangiameli, E., Pelizzoni, I., Grohovaz, F., & Pandolfo, M. (2016). Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor. Human molecular genetics, 25(22), 4847-4855. doi:10.1093/hmg/ddw308
  4. 40. Kearney, M., Orrell, R. W., Fahey, M., Brassington, R., & Pandolfo, M. (2016). Pharmacological treatments for Friedreich ataxia. Cochrane database of systematic reviews, 2016(8), CD007791. doi:10.1002/14651858.CD007791.pub4
  5. 41. Paap, B. B., Roeske, S., Durr, A., Schöls, L., Ashizawa, T., Boesch, S., Bunn, L., Delatycki, M. M., Giunti, P., Lehéricy, S., Mariotti, C., Melegh, J., Pandolfo, M., Tallaksen, C. M. C., Timmann, D., Tsuji, S., Schulz, J. B., van de Warrenburg, B. P. C., & Klockgether, T. (2016). Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies. Movement Disorders Clinical Practice, 3(3), 230-240. doi:10.1002/mdc3.12315
  6. 42. Franke, B., Depondt, C., & Pandolfo, M. (2016). Genetic influences on schizophrenia and subcortical brain volumes: Large-scale proof of concept. Nature neuroscience, 19(3), 420-431. doi:10.1038/nn.4228
  7. 43. Lecocq, C., Charles, P., Azulay, J. P., Meissner, W., Rai, M., N'Guyen, K., Péréon, Y., Fabre, N., Robin, E., Courtois, S., Guyant-Maréchal, L., Zagnoli, F., Rudolf, G., Renaud, M., Sévin-Allouet, M., Lesne, F., Alaerts, N., Goizet, C., Calvas, P., Eusebio, A., Guissart, C., Derkinderen, P., Tison, F., Brice, A., Koenig, M., Pandolfo, M., Tranchant, C., Dürr, A., & Anheim, M. (2016). Delayed-onset Friedreich's ataxia revisited. Movement disorders, 31(1), 62-69. doi:10.1002/mds.26382
  8. 44. Pulst, S. M., Johnson, N. E., Dürr, A., Pandolfo, M., Roos, R. R., & Vance, J. J. (2016). 2016 in review and message from the Editors to Our Reviewers. Neurology: Genetics, 3(1), e132. doi:10.1212/NXG.0000000000000132
  9. 45. Depondt, C., Donatello, S., Rai, M., Wang, F. C., Manto, M., Simonis, N., & Pandolfo, M. (2016). MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurology: Genetics, 2(5), e94. doi:10.1212/NXG.0000000000000094
  10. 46. Pousset, F., du Montcel, S. T., Dürr, A., Legrand, L., Monin, M. L., Ewenczyk, C., Charles, P., Komajda, M., Brice, A., Pandolfo, M., & Isnard, R. (2015). A 22-year follow-up study of long-term cardiac outcome and predictors of survival in Friedreich ataxia. JAMA Neurology, 72(11), 1334-1341. doi:10.1001/jamaneurol.2015.1855
  11. 47. Jacobi, H., Charles, P., Marelli, C., Mariotti, C., Nanetti, L., Panzeri, M., Rakowicz, M., Sulek, A., Sobanska, A., Schmitz-Hübsch, T., Schöls, L., du Montcel, S. T., Hengel, H., Baliko, L., Melegh, B., Filla, A., Antenora, A., Infante, J., Berciano, J., van de Warrenburg, B. P. C., Timmann, D., Szymanski, S., Bauer, P., Boesch, S., Kang, J. S., Pandolfo, M., Schulz, J. B., Molho, S., Diallo, A., Klockgether, T., Giunti, P., Cook, A., Labrum, R., Parkinson, M. M., Dürr, A., & Brice, A. (2015). Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: A longitudinal cohort study. Lancet neurology, 14(11), 147, 1101-1108. doi:10.1016/S1474-4422(15)00202-1
  12. 48. Ravella, A. B., Ringstedt, T., Brion, J. P., Pandolfo, M., & Herlenius, E. (2015). Adult neural precursor cells form connexin-dependent networks that improve their survival. NeuroReport, 26(15), 928-936. doi:10.1097/WNR.0000000000000451
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