%0 Journal Article %J NeuroMolecular Medicine %D 2017 %T Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients %A Raposo, M. %A Bettencourt, C. %A Ramos, A. %A Kazachkova, N. %A Vasconcelos, J. %A Kay, T. %A Brüges-Armas, J. %A Lima, M. %B NeuroMolecular Medicine %V 19 %P 41 - 45 %8 2017 %G eng %U https://www.scopus.com/inward/record.uri?eid=2-s2.0-84973165916&doi=10.1007%2fs12017-016-8416-8&partnerID=40&md5=1bf7323e8a8e32f5720890b74515e840 %N 1 %0 Journal Article %J Annals of Neurology %D 2016 %T DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases %A Bettencourt, C. %A Hensman-Moss, D. %A Flower, M. %A Wiethoff, S. %A Brice, A. %A Goizet, C. %A Stevanin, G. %A Koutsis, G. %A Karadima, G. %A Panas, M. %A Yescas-Gómez, P. %A García-Velázquez, L.E. %A Alonso-Vilatela, M.E. %A Lima, M. %A Raposo, M. %A Traynor, B. %A Sweeney, M. %A Wood, N. %A Giunti, P. %A Durr, A. %A Holmans, P. %A Houlden, H. %A Tabrizi, S.J. %A Jones, L. %B Annals of Neurology %V 79 %P 983 - 990 %8 2016 %G eng %U https://www.scopus.com/inward/record.uri?eid=2-s2.0-84971318192&doi=10.1002%2fana.24656&partnerID=40&md5=c790fe0349d30d81c9ad679b0fe8fa1f %N 6 %0 Journal Article %J Journal of Molecular Neuroscience %D 2016 %T Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias %A Ramos, A. %A Raposo, M. %A Milà, M. %A Bettencourt, C. %A Houlden, H. %A Cisneros, B. %A Magaña, J.J. %A Bettencourt, B.F. %A Brüges-Armas, J. %A Santos, C. %A Lima, M. %B Journal of Molecular Neuroscience %V 58 %P 83 - 87 %8 2016 %G eng %U https://www.scopus.com/inward/record.uri?eid=2-s2.0-84957556509&doi=10.1007%2fs12031-015-0646-y&partnerID=40&md5=cf84c45c8ee57605c08b4cf39ae58882 %N 1 %0 Journal Article %J Movement Disorders %D 2015 %T Novel candidate blood-based transcriptional biomarkers of machado-joseph disease %A Raposo, M. %A Bettencourt, C. %A MacIel, P. %A Gao, F. %A Ramos, A. %A Kazachkova, N. %A Vasconcelos, J. %A Kay, T. %A Rodrigues, A.J. %A Bettencourt, B. %A Bruges-Armas, J. %A Geschwind, D. %A Coppola, G. %A Lima, M. %B Movement Disorders %V 30 %P 968 - 975 %8 2015 %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84931957594&partnerID=40&md5=a9672083c6e952786bb7cb8a048883f4 %N 7 %0 Generic %D 2013 %T "Mimicking" capacity of spinocerebellar ataxia type 3: The details matter %A Bettencourt, C. %A Lima, M. %B Journal of the Neurological Sciences %8 2013/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84873700669&partnerID=40&md5=f1c3e0e96ab13c804cc58b0d516ab6cf %0 Journal Article %J Neurodegenerative Diseases %D 2013 %T Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of machado-joseph disease %A Kazachkova, N. %A Raposo, M. %A Montiel, R. %A Cymbron, T. %A Bettencourt, C. %A Silva-Fernandes, A. %A Silva, S. %A MacIel, P. %A Lima, M. %B Neurodegenerative Diseases %V 11 %P 206 - 214 %8 2013 %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84876420658&partnerID=40&md5=f0b646d972828970b958ddc51bf75185 %N 4 %0 Journal Article %J Journal of Molecular Neuroscience %D 2013 %T Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions %A Bettencourt, C. %A Raposo, M. %A Ros, R. %A Montiel, R. %A Bruges-Armas, J. %A Lima, M. %B Journal of Molecular Neuroscience %V 49 %P 539 - 543 %8 2013 %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84880628160&partnerID=40&md5=bd72a15e9ddf723cd616fba0e4a8a27b %N 3 %0 Journal Article %J Parkinsonism and Related Disorders %D 2012 %T Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3 %A Siebert, M. %A Donis, K.C. %A Socal, M. %A Rieder, C.R.M. %A Emmel, V.E. %A Vairo, F. %A Michelin-Tirelli, K. %A França, M. %A D'Abreu, A.C. %A Bettencourt, C. %A Lima, M. %A Lopes Cendes, I. %A Saraiva-Pereira, M.L. %A Jardim, L.B. %B Parkinsonism and Related Disorders %V 18 %P 185 - 190 %8 2012/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84856234407&partnerID=40&md5=3ba8eb0d7b18d31a56a0719d72aab0fc %N 2 %0 Journal Article %J Human Mutation %D 2012 %T Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias %A Bettencourt, C. %A Quintáns, B. %A Ros, R. %A Ampuero, I. %A Yáñez, Z. %A Pascual, S. I. %A de Yébenes, J. G. %A Sobrido, M. -J. %B Human Mutation %V 33 %P 1315 - 1323 %8 2012/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84865174187&partnerID=40&md5=08b99ae0e6e3ed55e7ec1cf881085d51 %N 9 %0 Journal Article %J Cerebellum %D 2012 %T Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3) %A Bettencourt, C. %A Raposo, M. %A Kazachkova, N. %A Santos, C. %A Kay, T. %A Vasconcelos, J. %A MacIel, P. %A Donis, K.C. %A Saraiva-Pereira, M.L. %A Jardim, L.B. %A Sequeiros, J. %A Bruges-Armas, J. %A Lima, M. %B Cerebellum %V 11 %P 1045 - 1050 %8 2012/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84870454416&partnerID=40&md5=98c726270b929335be073366fd3cd394 %N 4 %0 Generic %D 2012 %T Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions %A Bettencourt, C. %A Raposo, M. %A Ros, R. %A Montiel, R. %A Bruges-Armas, J. %A Lima, M. %B Journal of Molecular Neuroscience %P 1 - 5 %8 2012/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84862175369&partnerID=40&md5=9f37a5eeefebc6f65af6e54275217f7a %0 Journal Article %J Archives of Neurology %D 2011 %T The APOE ε 2 allele increases the risk of earlier age at onset in Machado-Joseph disease %A Bettencourt, C. %A Raposo, M. %A Kazachkova, N. %A Cymbron, T. %A Santos, C. %A Kay, T. %A Vasconcelos, J. %A MacIel, P. %A Donis, K.C. %A Saraiva-Pereira, M.L. %A Jardim, L.B. %A Sequeiros, J. %A Lima, M. %B Archives of Neurology %V 68 %P 1580 - 1583 %8 2011/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-83455217478&partnerID=40&md5=390b4f6ea81bf9b7663fa45be23d8c73 %N 12 %0 Journal Article %J Annals of Human Biology %D 2011 %T Cross-sectional study of risk factors for atherosclerosis in the Azorean population %A Cymbron, T. %A Raposo, M. %A Kazachkova, N. %A Bettencourt, C. %A Silva, F. %A Santos, C. %A Dahmani, Y. %A Lourenço, P. %A Ferin, R. %A Pavão, M.L. %A Lima, M. %B Annals of Human Biology %V 38 %P 354 - 359 %8 2011/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-79953085645&partnerID=40&md5=58b5ebddd12796887d20d6bdeed6ca0f %N 3 %0 Journal Article %J Orphanet Journal of Rare Diseases %D 2011 %T Machado-Joseph disease: From first descriptions to new perspectives %A Bettencourt, C. %A Lima, M. %B Orphanet Journal of Rare Diseases %V 6 %8 2011/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-79957861210&partnerID=40&md5=ddd82df174d95340d1c74ab5ab84b715 %N 1 %0 Journal Article %J BMC Neurology %D 2011 %T Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): A two-case report %A Bettencourt, C. %A Santos, C. %A Coutinho, P. %A Rizzu, P. %A Vasconcelos, J. %A Kay, T. %A Cymbron, T. %A Raposo, M. %A Heutink, P. %A Lima, M. %B BMC Neurology %V 11 %8 2011/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-80054808790&partnerID=40&md5=89a2462d242c670ffc24b66f141b2d62 %0 Journal Article %J European Journal of Human Genetics %D 2010 %T The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): A comparison between DNA and mRNA in patients and controls %A Bettencourt, C. %A Santos, C. %A Montiel, R. %A Kay, T. %A Vasconcelos, J. %A MacIel, P. %A Lima, M. %B European Journal of Human Genetics %V 18 %P 621 - 623 %8 2010/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-77951621418&partnerID=40&md5=e912c11db9ae5088163b7d57972cab1a %N 5 %0 Journal Article %J American Journal of Human Biology %D 2010 %T Genetic profiling of the Azores Islands (Portugal): Data from 10 X-chromosome STRS %A Silva, F. %A Pereira, R. %A Gusmão, L. %A Santos, C. %A Amorim, A. %A Prata, M.J. %A Bettencourt, C. %A Lourenço, P. %A Lima, M. %B American Journal of Human Biology %V 22 %P 221 - 223 %8 2010/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-77249177524&partnerID=40&md5=d85bd0c9ccdd3a2bcc569488cfef53a1 %N 2 %0 Journal Article %J Neurogenetics %D 2010 %T Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3) %A Bettencourt, C. %A Santos, C. %A Montiel, R. %A do Carmo Costa, M. %A Cruz-Morales, P. %A Santos, L.R. %A Simões, N. %A Kay, T. %A Vasconcelos, J. %A MacIel, P. %A Lima, M. %B Neurogenetics %V 11 %P 193 - 202 %8 2010/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-77954656232&partnerID=40&md5=fb4c220db09abf43e90d0981b0f19c85 %N 2 %0 Journal Article %J Journal of Human Genetics %D 2008 %T Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: A study in normal families from the Azores islands (Portugal) %A Bettencourt, C. %A Fialho, R.N. %A Santos, C. %A Montiel, R. %A Bruges-Armas, J. %A MacIel, P. %A Lima, M. %B Journal of Human Genetics %V 53 %P 333 - 339 %8 2008/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-41549158255&partnerID=40&md5=1ea6786550e9962731e9e205792a92bd %N 4 %0 Journal Article %J Human Heredity %D 2005 %T Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal %A Lima, M. %A Costa, M.C. %A Montiel, R. %A Ferro, A. %A Santos, C. %A Silva, C. %A Bettencourt, C. %A Sousa, A. %A Sequeiros, J. %A Coutinho, P. %A MacIel, P. %B Human Heredity %V 60 %P 156 - 163 %8 2005/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-31144472852&partnerID=40&md5=2a536d1c39a9c4b16dffad407bf2e971 %N 3