Massimo Pandolfo, MD
Clinical trials:听
Before coming to the Department of Neurology and Neurosurgery at 成人VR视频 in 2021, Dr. Massimo Pandolfo was Chief of Neurology at Erasme Hospital and Professor of Neurology at the Universit茅 Libre de Bruxelles (ULB), where he was also Director of the Laboratory of Experimental Neurology.鈥� His research interests focus on neurogenetics. An international collaboration led by Dr. Pandolfo was the first to identify the Friedreich鈥檚 ataxia (FRDA) gene in 1996. He has since contributed to the study of the molecular pathogenesis of the disease, to the development of therapeutics, and to its clinical characterization.听听
He has been the coordinator of the European Friedreich鈥檚 Ataxia Consortium for Translational Studies (EFACTS) and is currently on the Board of Directors of the Ataxia Charlevoix-Saguenay Foundation. 鈥疘n addition, he has contributed to the study of several monogenic epilepsies and participated in genetic studies on common epilepsies and on epilepsy pharmacogenetics. He was also involved in genetic studies on brain degeneration with iron accumulation, paroxysmal non-kinesogenic dyskinesia, aceruloplasminemia, and on the predisposition to stroke.鈥�
1.鈥����疍ionisi C, Chazalon M, Rai M, Keime C, Imbault V, Communi D, Puccio H, Schiffmann SN,鈥疨andolfo M. . Brain Communications 2023; 5:fcad007听
2.鈥����疨andolfo M, Reetz鈥疜, Darling A, Rodriguez de Rivera FJ, Henry P-G, Joers J, Lenglet鈥疌, Adanyeguh I, Deelchand D, Mochel F, Pousset F, Pascual S, Van den Eede D, Martin-Ugarte I, Vil脿-Brau A, Mantilla A, Pascual M, Martinell M, Meya U, Durr A.鈥�. Neurology Genetics鈥�2022;鈥�8:e200034.听
3.鈥����疪eetz K, Dogan I, Hilgers R-D, Giunti P, Parkinson MH, Mariotti C, Nanetti L, D眉rr A, Ewenczyk鈥疌, Boesch S, Nachbauer W, Klopstock T, Stendel C,鈥疪odr铆guez de Rivera Garrido FJ, Rummey C, Sch枚ls L, Hayer S, Klockgether T, Giordano I, Didszun C, Rai M,鈥疨andolfo M, Schulz JB鈥痑nd the EFACTS study group.鈥�. Lancet鈥疦eurology鈥�2021; 20:362-372.鈥�
4.鈥����疨andolfo M, Arpa J, Delatycki MB,鈥疞e Quan Sang KH, Mariotti C, Munnich A, Sanz-Gallego I, Tai G, Tarnopolsky MA, Taroni F, Spino M, Tricta F. . Annals of Neurology 2014; 76:509-521.鈥�
5.鈥����疍ibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PMC, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-L贸pez R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AMJM,鈥疨andolfo M, Berkovic SF, Scheffer IE. Nature Genetics 2013; 45:546-551.听
6.鈥���疶. Schmitz-H眉bsch, S. T. du Montcel, L. Baliko, J. Berciano, S. Boesch, C. Depondt, P. Giunti, C. Globas, J. Infante, J.-S. Kang, B. Kremer, C. Mariotti, B. Melegh,鈥疢. Pandolfo, M. Rakowicz, P. Ribai, R. Rola, L. Sch枚ls, S. Szymanski, B. P. van de Warrenburg, A. D眉rr, T. Klockgether, R. Fancellu. . Neurology 2006; 66:1717鈥�1720.听
7.鈥��疢.-C. Moreira, S. Klur, M. Watanabe, A. H. N茅meth, I. Le Ber, J.-C. Moniz, C. Tranchant, P. Aubourg, M. Tazir, L. Sch枚ls,鈥疢. Pandolfo, J. B. Schulz, J. Pouget, P. Calvas, M. Shizuka-Ikeda, M. Shoji, M. Tanaka, L. Izatt, C. E. Shaw, A. M'Zahem, E. Dunne, P. Bomont, T. Benhassine, N. Bouslam, G. Stevanin, A. Brice, J. Guimar茫es, P. Mendon莽a, C. Barbot, P. Coutinho, J. Sequeiros, A. D眉rr, J.-M. Warter, M. Koenig. . Nature Genetics 2004; 36:225鈥�227.听
8.鈥���疢. Coss茅e, A. D眉rr, M. Schmitt, N. Dahl, Trouillas, Allinson, M. Kostrzewa, A. Nivelon-Chevallier, K. H. Gustavson, A. Kohlsch眉tter, U. M眉ller, J. L. Mandel, A. Brice, M. Koenig, F. Cavalcanti, A. Tammaro, G. De Michele, A. Filla, S. Cocozza, M. Labuda, L. Montermini, J. Poirier,鈥疢. Pandolfo. . Annals of Neurology 1999; 45:200鈥�206.听
9.鈥�疢. Babcock, D. de Silva, R. Oaks, S. Davis-Kaplan, S. Jiralerspong, L. Montermini,鈥疢. Pandolfo, J. Kaplan. . Science 1997; 276:1709鈥�1712.听
10.鈥�疺. Campuzano, L. Montermini, M. D. Molt貌, L. Pianese, M. Coss茅e, F. Cavalcanti, E. Monros, F. Rodius, F. Duclos, A. Monticelli, F. Zara, J. Ca帽izares, H. Koutnikova, S. I. Bidichandani, C. Gellera, A. Brice, P. Trouillas, G. De Michele, A. Filla, R. De Frutos, F. Palau, P. I. Patel, S. di Donato, J. L. Mandel, S. Cocozza, M. Koenig,鈥疢. Pandolfo. Science 1996; 271:1423鈥�1427.听
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