Massimo Pandolfo, MD
Professor
Co-Director, Clinical Research Unit, Montreal Neurological Institute
Before coming to the Department of Neurology and Neurosurgery at 91社区 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. 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.
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. In 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.
Rare neurological diseases
1. Dionisi C, Chazalon M, Rai M, Keime C, Imbault V, Communi D, Puccio H, Schiffmann SN, Pandolfo M. . Brain Communications 2023; 5:fcad007
2. Pandolfo M, Reetz K, Darling A, Rodriguez de Rivera FJ, Henry P-G, Joers J, Lenglet C, 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. . Neurology Genetics 2022; 8:e200034.
3. Reetz K, Dogan I, Hilgers R-D, Giunti P, Parkinson MH, Mariotti C, Nanetti L, D眉rr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodr铆guez de Rivera Garrido FJ, Rummey C, Sch枚ls L, Hayer S, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB and the EFACTS study group. . Lancet Neurology 2021; 20:362-372.
4. Pandolfo M, Arpa J, Delatycki MB, Le 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.
5. Dibbens 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, Pandolfo M, Berkovic SF, Scheffer IE. Nature Genetics 2013; 45:546-551.
6. T. 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, M. 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.
7. M.-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, M. 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.
8. M. 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, M. Pandolfo. . Annals of Neurology 1999; 45:200鈥�206.
9. M. Babcock, D. de Silva, R. Oaks, S. Davis-Kaplan, S. Jiralerspong, L. Montermini, M. Pandolfo, J. Kaplan. . Science 1997; 276:1709鈥�1712.
10. V. 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, M. Pandolfo. Science 1996; 271:1423鈥�1427.