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Paola has a longstanding interest in the pathogenesis of neurological disorders, in particular the inherited cerebellar ataxias and other movement disorders. At UCL, Paola has been researching the mechanisms that underlie neuronal degeneration in the central and peripheral nervous systems. Paola's contribution has been instrumental in the identification of genes causing different autosomal dominant cerebellar disorders. Paola's research has also expanded the clinical spectrum of several rare inherited disorders. Paola's research team focuses on understanding the cellular and molecular mechanisms of neurodegenerative diseases with a particular emphasis on triplet repeat conditions. This implies the use of molecular and cell biology techniques and more recently, live imaging. Paola is an active major contributor to two European consortiums on focused on the natural history of the inherited ataxias (EUROSCA and EFACTS) and is involved in the translation of basic research findings into the clinic for use in both diagnostic testing and therapeutic trials.She have been PI and Co-PI in multicentre multinational drug trials in Friedreich’s ataxia. One of these studies have identified a well tolerated dose of nicotinamide ( vit B3) that can address the causative deficit in this disorder.
Paola has a longstanding interest in the pathogenesis of neurological disorders, in particular the inherited cerebellar ataxias and other movement disorders. At UCL, Paola has been researching the mechanisms that underlie neuronal degeneration in the central and peripheral nervous systems. Paola's contribution has been instrumental in the identification of genes causing different autosomal dominant cerebellar disorders. Paola's research has also expanded the clinical spectrum of several rare inherited disorders. Paola's research team focuses on understanding the cellular and molecular mechanisms of neurodegenerative diseases with a particular emphasis on triplet repeat conditions. This implies the use of molecular and cell biology techniques and more recently, live imaging. Paola is an active major contributor to two European consortiums on focused on the natural history of the inherited ataxias (EUROSCA and EFACTS) and is involved in the translation of basic research findings into the clinic for use in both diagnostic testing and therapeutic trials.She have been PI and Co-PI in multicentre multinational drug trials in Friedreich’s ataxia. One of these studies have identified a well tolerated dose of nicotinamide ( vit B3) that can address the causative deficit in this disorder.
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论文共 247 篇作者统计合作学者相似作者
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Monica Ferreira,Tamara Schaprian, David Kuegler,Martin Reuter, Katharina Deike-Hoffmann,Dagmar Timmann,Thomas M. Ernst,Paola Giunti,Hector Garcia-Moreno,Bart van de Warrenburg,Judith van Gaalen,Jeroen de Vries,
David Lynch, Sylvia Boesch,Martin Delatycki,Paola Giunti,Angie Goldsberry,Chad Hoyle,Katherine Mathews, Seemi Khan,Colin Meyer, Masako Murai,Wolfgang Nachbauer,Susan Perlman,
Jennifer Faber,Moritz Berger,Carlo Wilke,Jeannette Hubener-Schmid,Tamara Schaprian,Magda M. Santana,Marcus Grobe-Einsler, Demet Onder, Berkan Koyak,Paola Giunti,Hector Garcia-Moreno, Cristina Gonzalez-Robles,
ANNALS OF NEUROLOGYno. 2 (2024): 400-406
Magda Matos Santana,Patrick Silva,Maria M Pinto,Laetitia Gaspar,Rui Jorge Nobre,Sonia Duarte, Tania Marques, Margarida Gama-Carvalho,Cristina Januario,Ines Cunha,Joana Ribeiro,Jeannette Huebener-Schmid,
biorxiv(2024)
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Orphanet Journal of Rare Diseasesno. 1 (2024): 1-12
Neurobiology of Diseasepp.106456, (2024)
Brain : a journal of neurology (2024)
Aarti Singh,Manuel Rigon, Marta Gramaça Caldeira,Danilo Faccenda,Dong Xia, Jordi Lopez-Tremoleda, Zahra Falah Hassan Al-Khateeb, Tong Guo,Rosella Abeti,Paola Giunti,Michelangelo Campanella
biorxiv(2024)
Mónica Ferreira,Tamara Schaprian,David Kügler,Martin Reuter, Katharina Deike-Hoffmann,Dagmar Timmann,Thomas M. Ernst,Paola Giunti,Hector Garcia-Moreno,Bart van de Warrenburg,Judith van Gaalen,Jeroen de Vries,
The Cerebellumpp.1-2, (2024)
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