Articles dans des revues avec comité de lecture (263)

  1. 25. Coutelier, M., Pandolfo, M., et al. (2018). Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurology, 75(5), 591-599. doi:10.1001/jamaneurol.2017.5121
  2. 26. Diallo, A., Nanetti, L., Panzeri, M., Rakowicz, M., Sobanska, A., Sulek, A., Schmitz-Hübsch, T., Schöls, L., Hengel, H., Melegh, B., Filla, A., Jacobi, H., Antenora, A., Infante, J., Berciano, J., van de Warrenburg, B. P. C., Timmann, D., Boesch, S., Pandolfo, M., Schulz, J. B., Bauer, P., Giunti, P., Cook, A., Kang, J. S., Klockgether, T., Tezenas du Montcel, S., Labrum, R., Dürr, A., Brice, A., Charles, P., Marelli, C., & Mariotti, C. (2018). Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study. Lancet neurology, 17(4), 327-334. doi:10.1016/S1474-4422(18)30042-5
  3. 27. Sayah, S., Rotgé, J. Y., Francisque, H., Gargiulo, M., Czernecki, V., Justo, D., Lahlou-Laforet, K., Hahn, V., Pandolfo, M., Pelissolo, A., Fossati, P., & Dürr, A. (2018). Personality and Neuropsychological Profiles in Friedreich Ataxia. Cerebellum, 17(2), 204-212. doi:10.1007/s12311-017-0890-5
  4. 28. Pulst, S. M., Johnson, N. E., Pandolfo, M., Roos, R. R., & Vance, J. J. (2018). 2017 year in review and message from the editors to our reviewers. Neurology: Genetics, 4(1), e221. doi:10.1212/NXG.0000000000000221
  5. 29. Remiche, G., Lukacs, Z., Kasper, D. D., Abramowicz, M., & Pandolfo, M. (2018). Low prevalence estimates of late-onset glycogen storage disease type II in French-speaking Belgium are not due to missed diagnoses. Journal of clinical neuromuscular disease, 5(4), 471-480. doi:10.3233/JND-180336
  6. 30. Renaud, M., Pandolfo, M., et al. (2017). A recessive ataxia diagnosis algorithm for the next generation sequencing era. Annals of neurology, 82(6), 892-899. doi:10.1002/ana.25084
  7. 31. Androsova, G., Borghei, M., Depondt, C., Brodie, M. J., Chinthapalli, K., de Haan, G. J., Doherty, C. P., Gudmundsson, L. L., Heavin, S., Ingason, A., Johnson, M., Kennedy, C., Krenn, M., McCormack, M., O'Brien, T. J., Pandolfo, M., Pataraia, E., Petrovski, S., Rau, S., Sargsyan, N., Slattery, L., Stefánsson, K., Stern, W., Tostevin, A., Willis, J., Zimprich, F., et al. (2017). Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis. Epilepsia, 58(10), 1734-1741. doi:10.1111/epi.13871
  8. 32. 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. 33. 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. 34. Diallo, A., Jacobi, H., Schmitz-Hübsch, T., Cook, A., Labrum, R., Durr, A., Brice, A., Charles, P., Marelli, C., Mariotti, C., Nanetti, L., Panzeri, M., Rakowicz, M., Sobanska, A., Sulek, A., Schöls, L., Hengel, H., Melegh, B., Filla, A., Antenora, A., Infante, J., Berciano, J., van de Warrenburg, B. P. C., Timmann, D., Boesch, S., Pandolfo, M., Schulz, J. B., Bauer, P., Giunti, P., Baliko, L., Parkinson, M. M., Kang, J. S., Klockgether, T., & Tezenas du Montcel, S. (2017). Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression. Movement Disorders Clinical Practice, 4(5), 689-697. doi:10.1002/mdc3.12522
  11. 35. Lysandropoulos, A., Mavroudakis, N., Pandolfo, M., El Hafsi, K., Van Hecke, W., Maertens, A., Billiet, T., & Ribbens, A. (2017). HLA genotype as a marker of multiple sclerosis prognosis: A pilot study. Journal of the neurological sciences, 375, 348-354. doi:10.1016/j.jns.2017.02.019
  12. 36. Brugger, F., Kägi, G., Pandolfo, M., Mencacci, N. E., Batla, A., Wiethoff, S., & Bhatia, K. K. (2017). Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎. Movement Disorders Clinical Practice, 4(2), 254-257. doi:10.1002/mdc3.12393

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