TY - JOUR T1 - Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease JF - Cerebellum Y1 - 2017 A1 - Kazachkova, N. A1 - Raposo, M. A1 - Ramos, A. A1 - Montiel, R. A1 - Lima, M. VL - 16 UR - https://www.scopus.com/inward/record.uri?eid=2-s2.0-85023162613&doi=10.1007%2fs12311-017-0875-4&partnerID=40&md5=7d7ff89ba3748a239a5e1b9f20afda7f IS - 5-6 N1 - Export Date: 19 March 2018 ER - TY - JOUR T1 - Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of machado-joseph disease JF - Neurodegenerative Diseases Y1 - 2013 A1 - Kazachkova, N. A1 - Raposo, M. A1 - Montiel, R. A1 - Cymbron, T. A1 - Bettencourt, C. A1 - Silva-Fernandes, A. A1 - Silva, S. A1 - MacIel, P. A1 - Lima, M. VL - 11 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-84876420658&partnerID=40&md5=f0b646d972828970b958ddc51bf75185 IS - 4 N1 - Cited By (since 1996):1Export Date: 8 April 2014Source: Scopus ER - TY - JOUR T1 - Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions JF - Journal of Molecular Neuroscience Y1 - 2013 A1 - Bettencourt, C. A1 - Raposo, M. A1 - Ros, R. A1 - Montiel, R. A1 - Bruges-Armas, J. A1 - Lima, M. VL - 49 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-84880628160&partnerID=40&md5=bd72a15e9ddf723cd616fba0e4a8a27b IS - 3 N1 - Export Date: 8 April 2014Source: Scopus ER - TY - ABST T1 - Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions Y1 - 2012 A1 - Bettencourt, C. A1 - Raposo, M. A1 - Ros, R. A1 - Montiel, R. A1 - Bruges-Armas, J. A1 - Lima, M. JF - Journal of Molecular Neuroscience UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-84862175369&partnerID=40&md5=9f37a5eeefebc6f65af6e54275217f7a N1 - Export Date: 18 March 2013Source: ScopusArticle in Press ER - TY - JOUR T1 - The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): A comparison between DNA and mRNA in patients and controls JF - European Journal of Human Genetics Y1 - 2010 A1 - Bettencourt, C. A1 - Santos, C. A1 - Montiel, R. A1 - Kay, T. A1 - Vasconcelos, J. A1 - MacIel, P. A1 - Lima, M. VL - 18 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-77951621418&partnerID=40&md5=e912c11db9ae5088163b7d57972cab1a IS - 5 N1 - Cited By (since 1996): 3Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3) JF - Neurogenetics Y1 - 2010 A1 - Bettencourt, C. A1 - Santos, C. A1 - Montiel, R. A1 - do Carmo Costa, M. A1 - Cruz-Morales, P. A1 - Santos, L.R. A1 - Simões, N. A1 - Kay, T. A1 - Vasconcelos, J. A1 - MacIel, P. A1 - Lima, M. VL - 11 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-77954656232&partnerID=40&md5=fb4c220db09abf43e90d0981b0f19c85 IS - 2 N1 - Cited By (since 1996): 7Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: A study in normal families from the Azores islands (Portugal) JF - Journal of Human Genetics Y1 - 2008 A1 - Bettencourt, C. A1 - Fialho, R.N. A1 - Santos, C. A1 - Montiel, R. A1 - Bruges-Armas, J. A1 - MacIel, P. A1 - Lima, M. VL - 53 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-41549158255&partnerID=40&md5=1ea6786550e9962731e9e205792a92bd IS - 4 N1 - Cited By (since 1996): 9Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal JF - Human Heredity Y1 - 2005 A1 - Lima, M. A1 - Costa, M.C. A1 - Montiel, R. A1 - Ferro, A. A1 - Santos, C. A1 - Silva, C. A1 - Bettencourt, C. A1 - Sousa, A. A1 - Sequeiros, J. A1 - Coutinho, P. A1 - MacIel, P. VL - 60 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-31144472852&partnerID=40&md5=2a536d1c39a9c4b16dffad407bf2e971 IS - 3 N1 - Cited By (since 1996): 8Export Date: 18 March 2013Source: Scopus ER -