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His research interests focus on neurogenetics. An international collaboration led by Dr. Pandolfo was the first to identify the Friedreich’s 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’s 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.
He has been the coordinator of the European Friedreich’s 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.
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Annals of clinical and translational neurologyno. 11 (2023): 2000-2012
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Louise A. Corben,Veronica Collins,Sarah Milne,Jennifer Farmer, Ann Musheno,David Lynch,Sub Subramony,Massimo Pandolfo,Jörg B. Schulz,Kim Lin,Martin B. Delatycki, Hamed Akhlaghi Jr
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