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职业迁徙
个人简介
Is graduated in Biology (1998) by the Faculty of Sciences, University of Porto. After 2-years’ experience as research fellow initiated a PhD in Biomedical Sciences concluded in 2006. In 2007, initiated a post-doc and had a 5-years research position (2009-2014), at IBMC, under the Ciência 2008 program.
As research fellow, worked on the genetic characterisation of spinocerebellar ataxias (SCAs), identifying expanded repeats as the causal mutation in several families. During the PhD, focused on identifying mutations in families with rare SCAs, as well as the molecular and behavioural study of mouse models for SCAs, with a great impact on the knowledge about SCAs and, in particular, on the role of calcium deregulation on cognitive function.
After the PhD, initiated a post-doc (2007-09) at CNC, Coimbra and was granted a Ciência 2008 position (2009-2014), which allowed to start the creation of independent research lines at UnIGENe and tackle scientific topics not being addressed, as the search for genetic modifiers (using C. elegans models); and to submit own research projects for funding. Was PI of 2 FCT projects and currently is the PI of a project funded under the FCT-ANR protocol on the identification and biological validation of new genes involved in rare neurological disorders (funds to date ~€600,000).
Recent research highlights include the identification, through exome sequencing, of PNKP as the 4th cause of ataxia with oculomotor apraxia (AOA4); and demonstrating the impact of ancestry in the search for genetic modifiers.
Supervised 1 post-doc, 3 PhD (one from Brazil) and 7 MSc students, all successfully concluded. Currently, supervises 1 post-doc and 3 PhD students.
Published 58 papers in international peer-reviewed journals (34% in the top 5% of the respective field; 73% in the top 25%)
Has been involved in post-graduate education, lecturing to PhD and MSc programs and established several national and international collaborations. Maintains a close collaboration with the Ataxia and Huntington´s disease patient associations. Received several awards, including from the Calouste Gulbenkian Foundation, the Portuguese Headache Society and the Center for Clinical Genetics (Prof. Amândio Tavares Award).
研究兴趣
论文共 168 篇作者统计合作学者相似作者
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L. Silva,A. Sardoeira,E. Brandão, M. Rocha,S. Pina,S. Cavaco,R. Felgueiras,I. Alonso,J. Barros,J. Sequeiros,H. Costa,J. Leal Loureiro,J. Damásio
Parkinsonism & Related Disorders (2024)
Neurological sciencesno. 9 (2023): 3303-3305
Marco Foddis,Sonja Blumenau,Manuel Holtgrewe,Kimberly Paquette,Kaitlyn Westra,Isabel Alonso,Maria do Carmo Macario,Ana Sofia Morgadinho,Ana Graca Velon,Gustavo Santo,Isabel Santana,Saana Monkare,Liina Kuuluvainen,Johanna Schleutker,Minna Poyhonen,Liisa Myllykangas,Aleksandra Pavlovic,Vladimir Kostic,Valerija Dobricic,Ebba Lohmann,Hasmet Hanagasi,Mariana Santos,Gamze Guven,Basar Bilgic,Jose Bras,Dieter Beule,Ulrich Dirnagl,Rita Guerreiro,Celeste Sassi
Movement disorders clinical practiceno. 5 (2022): 703-706
Mafalda Raposo,Conceicao Bettencourt,Ana Rosa Vieira Melo,Ana F. Ferreira,Isabel Alonso,Paulo Silva,Joao Vasconcelos,Teresa Kay,Maria Luiza Saraiva-Pereira,Marta D. Costa,Daniela Vilasboas-Campos,Bruno Filipe Bettencourt,Jacome Bruges-Armas,Henry Houlden,Peter Heutink,Laura Bannach Jardim,Jorge Sequeiros,Patricia Maciel,Manuela Lima
Neurobiology of disease (2022): 105578-105578
Sophia Caldas Gonzaga da Costa, Flavio e de Rezende-Filho,Julian Leticia de Freitas,Paula Camila Alves de Assis Pereira Matos,Bruno Della-Ripa,Marcondes Cavalcante Franca,Wilson Marques,Mariana Santos, Igor Vasconcelos Barros Cronemberger,Thiago Cardoso Vale,Fernando Kok,Isabel Alonso,Jose Luiz Pedroso,Orlando G. P. Barsottini
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作者统计
#Papers: 167
#Citation: 2505
H-Index: 27
G-Index: 46
Sociability: 7
Diversity: 3
Activity: 23
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