Maria da Conceição Félix Bettencourt
AuthID: R-000-AW8
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TITLE: Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias Full Text
AUTHORS: Conceicao Bettencourt; Beatriz Quintans; Raquel Ros; Israel Ampuero; Zuleima Yanez; Samuel I Ignacio Pascual; Justo G Garcia de Yebenes; Maria Jesus Sobrido;
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 9
AUTHORS: Conceicao Bettencourt; Beatriz Quintans; Raquel Ros; Israel Ampuero; Zuleima Yanez; Samuel I Ignacio Pascual; Justo G Garcia de Yebenes; Maria Jesus Sobrido;
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 9
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TITLE: Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3 Full Text
AUTHORS: Siebert, M; Donis, KC; Socal, M; Rieder, CRM; Emmel, VE; Vairo, F; Michelin Tirelli, K; Franca, M; D'Abreu, AC; Bettencourt, C; Lima, M ; Lopes L Cendes; Saraiva Pereira, ML; Jardirn, LB;
PUBLISHED: 2012, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 18, ISSUE: 2
AUTHORS: Siebert, M; Donis, KC; Socal, M; Rieder, CRM; Emmel, VE; Vairo, F; Michelin Tirelli, K; Franca, M; D'Abreu, AC; Bettencourt, C; Lima, M ; Lopes L Cendes; Saraiva Pereira, ML; Jardirn, LB;
PUBLISHED: 2012, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 18, ISSUE: 2
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TITLE: The APOE epsilon 2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease
AUTHORS: Conceicao Bettencourt; Mafalda Raposo; Nadiya Kazachkova ; Teresa Cymbron ; Cristina Santos; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Karina C Donis; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros ; Manuela Lima ;
PUBLISHED: 2011, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 68, ISSUE: 12
AUTHORS: Conceicao Bettencourt; Mafalda Raposo; Nadiya Kazachkova ; Teresa Cymbron ; Cristina Santos; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Karina C Donis; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros ; Manuela Lima ;
PUBLISHED: 2011, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 68, ISSUE: 12
INDEXED IN: 
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Scopus WOS14
TITLE: Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Paula Coutinho ; Patrizia Rizzu; Joao Vasconcelos; Teresa Kay; Teresa Cymbron ; Mafalda Raposo; Peter Heutink; Manuela Lima ;
PUBLISHED: 2011, SOURCE: BMC NEUROLOGY, VOLUME: 11, ISSUE: 1
AUTHORS: Conceicao Bettencourt; Cristina Santos; Paula Coutinho ; Patrizia Rizzu; Joao Vasconcelos; Teresa Kay; Teresa Cymbron ; Mafalda Raposo; Peter Heutink; Manuela Lima ;
PUBLISHED: 2011, SOURCE: BMC NEUROLOGY, VOLUME: 11, ISSUE: 1
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TITLE: Machado-Joseph Disease: from first descriptions to new perspectives Full Text
AUTHORS: Conceicao Bettencourt; Manuela Lima ;
PUBLISHED: 2011, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 6, ISSUE: 1
AUTHORS: Conceicao Bettencourt; Manuela Lima ;
PUBLISHED: 2011, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 6, ISSUE: 1
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TITLE: Cross-sectional study of risk factors for atherosclerosis in the Azorean population Full Text
AUTHORS: Teresa Cymbron ; Mafalda Raposo; Nadiya Kazachkova ; Conceicao Bettencourt; Francisca Silva; Cristina Santos; Yahya Dahmani; Paula Lourenco; Rita Ferin; Maria Leonor Pavao; Manuela Lima ;
PUBLISHED: 2011, SOURCE: ANNALS OF HUMAN BIOLOGY, VOLUME: 38, ISSUE: 3
AUTHORS: Teresa Cymbron ; Mafalda Raposo; Nadiya Kazachkova ; Conceicao Bettencourt; Francisca Silva; Cristina Santos; Yahya Dahmani; Paula Lourenco; Rita Ferin; Maria Leonor Pavao; Manuela Lima ;
PUBLISHED: 2011, SOURCE: ANNALS OF HUMAN BIOLOGY, VOLUME: 38, ISSUE: 3
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TITLE: The (CAG)(n) tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Rafael Montiel; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Manuela Lima ;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
AUTHORS: Conceicao Bettencourt; Cristina Santos; Rafael Montiel; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Manuela Lima ;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
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TITLE: Increased transcript diversity: novel splicing variants of Machado-Joseph Disease gene (ATXN3) Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Rafael Montiel; Maria do Carmo Costa; Pablo Cruz Morales; Liliana Ribeiro Santos; Nelson Simoes ; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Manuela Lima ;
PUBLISHED: 2010, SOURCE: NEUROGENETICS, VOLUME: 11, ISSUE: 2
AUTHORS: Conceicao Bettencourt; Cristina Santos; Rafael Montiel; Maria do Carmo Costa; Pablo Cruz Morales; Liliana Ribeiro Santos; Nelson Simoes ; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Manuela Lima ;
PUBLISHED: 2010, SOURCE: NEUROGENETICS, VOLUME: 11, ISSUE: 2
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TITLE: Genetic Profiling of the Azores Islands (Portugal): Data from 10 X-Chromosome STRs Full Text
AUTHORS: Francisca Silva; Rui Pereira ; Leonor Gusmao ; Cristina Santos; Amorim, Antonio ; Maria Joao Prata ; Conceicao Bettencourt; Paula Lourenco; Manuela Lima ;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF HUMAN BIOLOGY, VOLUME: 22, ISSUE: 2
AUTHORS: Francisca Silva; Rui Pereira ; Leonor Gusmao ; Cristina Santos; Amorim, Antonio ; Maria Joao Prata ; Conceicao Bettencourt; Paula Lourenco; Manuela Lima ;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF HUMAN BIOLOGY, VOLUME: 22, ISSUE: 2
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TITLE: Analysis of segregation patterns in Machado-Joseph disease pedigrees Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Teresa Kay; Joao Vasconcelos; Manuela Lima ;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 10
AUTHORS: Conceicao Bettencourt; Cristina Santos; Teresa Kay; Joao Vasconcelos; Manuela Lima ;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 10
