Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing

Funding Information: This work was funded by FEDER - Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020 - Operacional Programme for Competitiveness and Internationalisation (POCI), Portugal 2020 , and by Portuguese funds through FCT - Fundação para a Ciência e a Tecnologia / Mi...

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Bibliographic Details
Main Author: Raposo, Mafalda (author)
Other Authors: Bettencourt, Conceição (author), Melo, Ana Rosa Vieira (author), Ferreira, Ana F. (author), Alonso, Isabel (author), Silva, Paulo (author), Vasconcelos, João (author), Kay, Teresa (author), Saraiva-Pereira, Maria Luiza (author), Costa, Marta D. (author), Vilasboas-Campos, Daniela (author), Bettencourt, Bruno Filipe (author), Bruges-Armas, Jácome (author), Houlden, Henry (author), Heutink, Peter (author), Jardim, Laura Bannach (author), Sequeiros, Jorge (author), Maciel, Patrícia (author), Lima, Manuela (author)
Format: article
Language:eng
Published: 2021
Subjects:
Age at onset
Genetic modifier
MJD
Polyglutamine disease
SCA3
Spinocerebellar ataxia
Neurology
Online Access:http://hdl.handle.net/10362/129676
Country:Portugal
Oai:oai:run.unl.pt:10362/129676
Description
Summary:Funding Information: This work was funded by FEDER - Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020 - Operacional Programme for Competitiveness and Internationalisation (POCI), Portugal 2020 , and by Portuguese funds through FCT - Fundação para a Ciência e a Tecnologia / Ministério da Ciência, Tecnologia e Ensino Superior in the framework of the project PTDC/DTP-PIC/2638/2017 ( POCI-01-0145-FEDER-016592 ); GenomePT ( POCI-01-0145-FEDER-022184 ); ICVS Scientific Microscopy Platform , member of the national infrastructure PPBI - Portuguese Platform of Bioimaging ( PPBI-POCI-01-0145-FEDER-022122 ; by National funds , through the Foundation for Science and Technology (FCT) - project UIDB/50026/2020 and UIDP/50026/2020 ; and by the project NORTE-01-0145-FEDER-000013 , supported by Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (ERDF) . MR is supported by FCT ( CEECIND/03018/2018 ). ARVM ( SFRH/BD/129547/2017 ) and AFF ( SFRH/BD/121101/2016 ) are supported by a PhD grant financed by FCT . CB is supported by the Multiple System Atrophy Trust and Alzheimer's Research UK . MDC received funding from National Ataxia Foundation (NAF) and from FCT ( SFRH/BPD/101925/2014 ); DV-C received a grant from FCT ( SFRH/BD/147826/2019 ). Publisher Copyright: © 2021

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