Articles dans des revues avec comité de lecture (263)
  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. Rodden, L. L., Gilliam, K. K., Lam, C., Rojsajjakul, T., Mesaros, C., Dionisi, C., Pook, M., Pandolfo, M., Lynch, D. D., Blair, I. I., & Bidichandani, S. S. (2022). DNA methylation in Friedreich ataxia silences expression of frataxin isoform E. Scientific reports, 12(1), 5031. doi:10.1038/s41598-022-09002-5
  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. Imbault, V., Dionisi, C., Naeije, G., Communi, D., & Pandolfo, M. (2022). Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation. Frontiers in Neuroscience, 16, 885313. doi:10.3389/fnins.2022.885313
  5. 5. Post, A. A., Klockgether, T., Landwehrmeyer, G. B., Pandolfo, M., Arnesen, A., Reinhard, C., & Graessner, H. (2021). Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases. Orphanet journal of rare diseases, 16(1), 135. doi:10.1186/s13023-020-01641-z
  6. 6. Naeije, G., Coquelet, N., Wens, V., Goldman, S., Pandolfo, M., & De Tiege, X. (2021). Age of onset modulates resting-state brain network dynamics in Friedreich Ataxia. Human brain mapping, 42(16), 5334-5344. doi:10.1002/hbm.25621
  7. 7. Naeije, G., Coquelet, N., Wens, V., Goldman, S., Pandolfo, M., & De Tiege, X. (2021). Age of onset modulates resting-state brain network dynamics in Friedreich Ataxia. Human brain mapping. doi:10.1002/hbm.25621
  8. 8. 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
  9. 9. Harding, I. I., Lynch, D., Koeppen, A. A., & Pandolfo, M. (2020). Central Nervous System Therapeutic Targets in Friedreich Ataxia. Human gene therapy, 31(23-24), 1226-1236. doi:10.1089/hum.2020.264
  10. 10. Indelicato, E., Nachbauer, W., Eigentler, A., Amprosi, M., Matteucci Gothe, R., Giunti, P., Mariotti, C., Arpa, J., Dürr, A., Klopstock, T., Schöls, L., Giordano, I. A., Bürk, K., Pandolfo, M., Didszdun, C., Schulz, J. B., & Boesch, S. (2020). Onset features and time to diagnosis in Friedreich's Ataxia. Orphanet journal of rare diseases, 15(1), 198. doi:10.1186/s13023-020-01475-9
  11. 11. 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
  12. 12. 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
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