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个人简介
Born in Barcelona, Antoni Matilla studied Biological Sciences at the University of Barcelona (1986). He obtained his doctorate (University of Barcelona, 1995) in Biochemistry, Genetics, Molecular Biology and Neurosciences on the investigation of genetic and molecular neurodegenerative mechanisms in hereditary ataxias. He completed his PhD at Baylor College of Medicine (BCM) in Houston, USA and obtained a fellowship from the Spanish Ministry of Science to carry out postdoctoral studies at BCM in Houston (USA). After a stay at the Rockefeller University in New York, in 1998 he obtained a post-doctoral fellowship from the Howard Hughes Medical Institute in the USA to complete his post-doctoral studies at the prestigious Eccles Institute of Human Genetics of the University of Utah (USA). From 2000 to 2007 he led his research group at University College London. Since 2008, he is the Head of the Neurogenetics Unit at the Germans Trias i Pujol Research Institute (IGTP) in Badalona, Barcelona, which is affiliated of the Universitat Autònoma de Barcelona. Among his main scientific findings are the identification of three new hereditary ataxias, and the deciphering of altered genes and molecular pathways. He has published more than 60 articles on ataxias (h-index: 25; 2725 citations), directed 28 doctoral and Master's theses, established 12 patents, gave more than 140 national and international lectures, and generated 5 licenses. In 2018, he established the spin-off of the IGTP Biointaxis S.L., which currently develops a gene therapy for Friedreich's ataxia. To date, he has obtained over 3M€ in competitive funding.
He was the scientific coordinator from 2004 to 2009 of the EUROSCA European project on ataxias funded by the European Commission. During the period 2010-2013, he coordinated the Ibero-American Thematic Network for the multidisciplinary study of Parkinson's disease and ataxias (RIBERMOV), which included more than 80 researchers from Spain and Latin America, funded by the Ibero-American Science Program and Technology for Development (CYTED). He is a co-founding member of the European Ataxia Study Group. He evaluates scientific manuscripts as a peer reviewer for more than 30 international scientific journals and evaluates projects as a scientific expert for the Spanish Agency for Evaluation and Prospective (ANEP) of the Ministry of Science, AGAUR, Ataxia-UK, the European Commission, the Medical Scientific Council (MRC) of the United Kingdom, the Telemarathon of Italy, the Israel Research Foundation, and the Hong Kong Government Health Agency. He has been a member of the Scientific Committees of the Spanish Ataxia Patient Associations (FEDAES), Catalan (ACAH) and European (EuroAtaxia) of which he has also been a member of the Committee of Executive Directors. From 2005 to 2017 he was Chief Editor of the Genetics Section of the scientific journal "The Cerebellum" (FI:3,648). Since 2001 he is accredited in Human Genetics by the Spanish Association of Human Genetics and teaches postgraduate programs in Human Genetics, Genetic Counseling and Neuroscience at the Universitat Autònoma de Barcelona, Pompeu Fabra University and the University of Barcelona. From 2015 to 2019 he was a scientific advisor to the Valencian company Sistemas Genòmicos S.L., with which he has collaborated in the design, development and validation of multigene diagnostic panels using NGS sequencing technology. From 2019 to 2021 he has been a scientific advisor to the Quaes Foundation. He is currently a member of the Scientific Committee of the Spanish Association of Hereditary Spastic Paraparesis (AEPEH).
研究兴趣
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Marina Sanchez-Flores,Marc Corral-Juan, Esther Gasch-Navalón,Davide Cirillo,Ivelisse Sanchez,Antoni Matilla-Dueñas
Human geneticsno. 3 (2024): 211-232
Human Geneticsno. 12 (2023): 1747-1754
J. Riancho,A. Matilla-Duenas, S. Setien, J. R. Sanchez-de la Torre, M. Misiego-Peral, M. Corral-Juan,M. Delgado Alvarado
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Handbook of the Cerebellum and Cerebellar Disorderspp.1-33, (2020)
University Hospital Marqués de Valdecilla,Matilla-Dueñas Antoni, Altadill-Bermejo Antonio,Setién Sonia, Misiego-Peral Mercedes, Sánchez-de la Torre José Ramón,Corral-Juan Marc, University of Cantabria
M. Corral-Juan, P. Casquero, N. Giraldo Restrepo,S. Laurie, A. Martinez-Pineiro, R. Mateo Montero,L. Ispierto,V. Volpini, D. Vilas, R. Alvarez-Ramo,I. Sanchez,A. Matilla-Duenas
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S. Martins, I. P. D. Costa,P. Giunti,M. Watanabe, H. Sasaki,B. C. Almeida,A. Amorim, C. Gaspar,G. Nicholson,M. L. Saraiva-Pereira, S. Tsuji, Q. Li,
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