Mafalda Sofia Bastos Raposo
AuthID: R-001-GHR
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TITLE: Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias Full Text
AUTHORS: Amanda Ramos; Mafalda Raposo; Montserrat Mila; Conceicao Bettencourt; Henry Houlden; Bulmaro Cisneros; Jonathan J Magana; Bruno Filipe Bettencourt; Jacome Bruges Armas; Cristina Santos; Manuela Lima;
PUBLISHED: 2016, SOURCE: JOURNAL OF MOLECULAR NEUROSCIENCE, VOLUME: 58, ISSUE: 1
AUTHORS: Amanda Ramos; Mafalda Raposo; Montserrat Mila; Conceicao Bettencourt; Henry Houlden; Bulmaro Cisneros; Jonathan J Magana; Bruno Filipe Bettencourt; Jacome Bruges Armas; Cristina Santos; Manuela Lima;
PUBLISHED: 2016, SOURCE: JOURNAL OF MOLECULAR NEUROSCIENCE, VOLUME: 58, ISSUE: 1
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TITLE: DNA Repair Pathways Underlie a Common Genetic Mechanism Modulating Onset in Polyglutamine Diseases. DNA Repair Pathways Modify polyQ Disease Onset Full Text
AUTHORS: Conceicao Bettencourt; Davina Hensman Moss; Michael Flower; Sarah Wiethoff; Alexis Brice; Cyril Goizet; Giovanni Stevanin; Georgios Koutsis; Georgia Karadima; Marios Panas; Petra Yescas Gomes; Lizbeth E Esmeralda Garcia Velazquez; Maria E Elisa Alonso Vilatela; Manuela Lima; Mafalda Raposo; Bryan Traynor; Mary Sweeney; Nicholas Wood; Paola Giunti; Alexandra Durr; ...More
PUBLISHED: 2016, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 79, ISSUE: 6
AUTHORS: Conceicao Bettencourt; Davina Hensman Moss; Michael Flower; Sarah Wiethoff; Alexis Brice; Cyril Goizet; Giovanni Stevanin; Georgios Koutsis; Georgia Karadima; Marios Panas; Petra Yescas Gomes; Lizbeth E Esmeralda Garcia Velazquez; Maria E Elisa Alonso Vilatela; Manuela Lima; Mafalda Raposo; Bryan Traynor; Mary Sweeney; Nicholas Wood; Paola Giunti; Alexandra Durr; ...More
PUBLISHED: 2016, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 79, ISSUE: 6
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TITLE: Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid? Full Text
AUTHORS: Mafalda Raposo; Amanda Ramos; Conceicao Bettencourt; Manuela Lima;
PUBLISHED: 2015, SOURCE: BRAIN, VOLUME: 138, ISSUE: 12
AUTHORS: Mafalda Raposo; Amanda Ramos; Conceicao Bettencourt; Manuela Lima;
PUBLISHED: 2015, SOURCE: BRAIN, VOLUME: 138, ISSUE: 12
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TITLE: Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3) Full Text
AUTHORS: Mafalda Raposo; Joao Vasconcelos; Conceicao Bettencourt; Teresa Kay; Paula Coutinho; Manuela Lima;
PUBLISHED: 2014, SOURCE: BMC NEUROLOGY, VOLUME: 14, ISSUE: 1
AUTHORS: Mafalda Raposo; Joao Vasconcelos; Conceicao Bettencourt; Teresa Kay; Paula Coutinho; Manuela Lima;
PUBLISHED: 2014, SOURCE: BMC NEUROLOGY, VOLUME: 14, ISSUE: 1
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TITLE: Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal)
AUTHORS: Cymbron, T; Mendes, P; Ramos, A; Raposo, M; Kazachkova, N; Medeiros, AM; Bruges Armas, J; Bourbon, M; Lima, M;
PUBLISHED: 2014, SOURCE: Meta Gene, VOLUME: 2
AUTHORS: Cymbron, T; Mendes, P; Ramos, A; Raposo, M; Kazachkova, N; Medeiros, AM; Bruges Armas, J; Bourbon, M; Lima, M;
PUBLISHED: 2014, SOURCE: Meta Gene, VOLUME: 2
INDEXED IN: 
Scopus 
CrossRef
Scopus CrossRef16
TITLE: Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions Full Text
AUTHORS: Conceicao Bettencourt; Mafalda Raposo; Raquel Ros; Rafael Montiel; Jacome Bruges Armas ; Manuela Lima ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MOLECULAR NEUROSCIENCE, VOLUME: 49, ISSUE: 3
AUTHORS: Conceicao Bettencourt; Mafalda Raposo; Raquel Ros; Rafael Montiel; Jacome Bruges Armas ; Manuela Lima ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MOLECULAR NEUROSCIENCE, VOLUME: 49, ISSUE: 3
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TITLE: Psychological Well-Being and Family Satisfaction Levels Five Years After Being Confirmed as a Carrier of the Machado-Joseph Disease Mutation
AUTHORS: Carlos Gonzalez; Elisabete Gomes; Nadiya Kazachkova ; Conceicao Bettencourt; Mafalda Raposo; Teresa Taylor Kay; Patrick MacLeod; Joao Vasconcelos; Manuela Lima ;
PUBLISHED: 2012, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 16, ISSUE: 12
AUTHORS: Carlos Gonzalez; Elisabete Gomes; Nadiya Kazachkova ; Conceicao Bettencourt; Mafalda Raposo; Teresa Taylor Kay; Patrick MacLeod; Joao Vasconcelos; Manuela Lima ;
PUBLISHED: 2012, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 16, ISSUE: 12
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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: Scopus 
WOS
Scopus WOS19
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: 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
