Articles dans des revues avec comité de lecture (29)
  1. 1. Dionisi, C., Chazalon, M., Rai, M., Keime, C., Imbault, V., Communi, D., Puccio, H., Schiffmann, S. N., & Pandolfo, M. (2023). Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties. Brain Communications, 5(1), fcad007. doi:10.1093/braincomms/fcad007
  2. 2. Corben, L. A., Collins, V., Milne, S., Farmer, J., Musheno, A., Lynch, D., Subramony, S., Pandolfo, M., Schulz, J. B., Lin, K., Delatycki, M. B., Akhlaghi, H., Bidichandani, S. I., Boesch, S., Cnop, M., Corti, M., Duquette, A., Durr, A., Eigentler, A., Emmanuel, A., Flynn, J. M., Foroush, N. C., Fournier, A., França, M. C., Giunti, P., Goh, E., Graf, L., Hadjivassiliou, M., Huckabee, M.-L., Kearney, M. G., Koeppen, A. H., Lie, Y., Lin, K. Y., Lowit, A., Mariotti, C., Mathews, K. K., McCormack, S. E., Montenegro, L., Morlet, T., Naeije, G., Panicker, J. N., Parkinson, M. H., Patel, A., Payne, R. M., Perlman, S. L., Peverill, R. E., Pousset, F., Puccio, H., Rai, M., Rance, G., Reetz, K., Rowland, T., Sansom, P., Savvatis, K., Schalling, E., Schöls, L., Smith, B., Soragni, E., Spencer, C., Synofzik, M., Szmulewicz, D., Tai, G., Tamaroff, J., Treat, L., Carpentier, A. V., Vogel, A. P., Walther, S. E., Weber, D. R., Weisbrod, N., Wilmot, G., Wilson, R. B., Yoon, G., & Zesiewicz, T. T. (2022). Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Orphanet journal of rare diseases, 17(1). doi:10.1186/s13023-022-02568-3
  3. 3. Hohenfeld, C., Terstiege, U., Dogan, I., Giunti, P., Parkinson, M. M., Mariotti, C., Nanetti, L., Fichera, M., Durr, A., Ewenczyk, C., Boesch, S., Nachbauer, W., Klopstock, T., Stendel, C., Rodriguez De Rivera, F. J., Schöls, L., Hayer, S. N., Klockgether, T., Giordano, I. A., Didszun, C., Rai, M., Pandolfo, M., Rauhut, H., Schulz, J. B., & Reetz, K. (2022). Prediction of the disease course in Friedreich ataxia. Scientific reports, 12(1), 19173. doi:10.1038/s41598-022-23666-z
  4. 4. Dionisi, C., Rai, M., Chazalon, M., Schiffmann, S. N., & Pandolfo, M. (2020). Primary proprioceptive neurons from human induced pluripotent stem cells: a cell model for afferent ataxias. Scientific reports, 10(1), 7752. doi:10.1038/s41598-020-64831-6
  5. 5. Naeije, G., Rai, M., Allaerts, N., Sjogärd, M., De Tiege, X., & Pandolfo, M. (2020). Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia. Annals of clinical and translational neurology, 7(6), 1050-1054. doi:10.1002/acn3.51079
  6. 6. Pandolfo, M., Rai, M., Remiche, G., Desmyter, L., & Vandernoot, I. (2020). Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation. Neurology: Genetics, 6(3), e420. doi:10.1212/NXG.0000000000000420
  7. 7. Igoillo Esteve, M., Martins Oliveira, A. F., Cosentino, C., Fantuzzi, F., Demarez, C., Toivonen, S., Hu, A., Chintawar, S., Lopes, M., Pachera, N., Cai, Y., Abdulkarim, B., Rai, M., Marselli, L., Marchetti, P., Tariq, M., Jonas, J.-C. J., Boscolo, M., Pandolfo, M., Eizirik, D. L., & Cnop, M. (2019). Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia. JCI insight. doi:10.1172/jci.insight.134221
  8. 8. Miller, J. L., Rai, M., Frigon, N. N., Pandolfo, M., Punnonen, J., & Spencer, J. J. (2017). Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo. Neuropharmacology, 123, 34-45. doi:10.1016/j.neuropharm.2017.05.011
  9. 9. Lad, M., Giunti, P., Parkinson, M. M., Rai, M., Pandolfo, M., Bogdanova-Mihaylova, P., Walsh, R. R., Murphy, S., Emmanuel, A., & Panicker, J. (2017). Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia. Orphanet journal of rare diseases, 12(1), 158. doi:10.1186/s13023-017-0709-y
  10. 10. 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
  11. 11. 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
  12. 12. 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
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