Maria da Conceição Félix Bettencourt
AuthID: R-000-AW8
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TITLE: Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients Full Text
AUTHORS: Mafalda Raposo; Conceicao Bettencourt; Amanda Ramos; Nadiya Kazachkova; Joao Vasconcelos; Teresa Kay; Jacome Bruges Armas; Manuela Lima;
PUBLISHED: 2017, SOURCE: NEUROMOLECULAR MEDICINE, VOLUME: 19, ISSUE: 1
AUTHORS: Mafalda Raposo; Conceicao Bettencourt; Amanda Ramos; Nadiya Kazachkova; Joao Vasconcelos; Teresa Kay; Jacome Bruges Armas; Manuela Lima;
PUBLISHED: 2017, SOURCE: NEUROMOLECULAR MEDICINE, VOLUME: 19, ISSUE: 1
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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: Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. Exome sequencing in SPG11 Full Text
AUTHORS: Bettencourt, C; Lopez Sendon, JL; Garcia Caldentey, J; Rizzu, P; Bakker, IMC; Shomroni, O; Quintans, B; Davila, JR; Bevova, MR; Sobrido, MJ; Heutink, P; de Yebenes, JG;
PUBLISHED: 2014, SOURCE: CLINICAL GENETICS, VOLUME: 85, ISSUE: 2
AUTHORS: Bettencourt, C; Lopez Sendon, JL; Garcia Caldentey, J; Rizzu, P; Bakker, IMC; Shomroni, O; Quintans, B; Davila, JR; Bevova, MR; Sobrido, MJ; Heutink, P; de Yebenes, JG;
PUBLISHED: 2014, SOURCE: CLINICAL GENETICS, VOLUME: 85, ISSUE: 2
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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: Trehalose Improves Human Fibroblast Deficits in a New CHIP-Mutation Related Ataxia Full Text
AUTHORS: Maria J Jose Casarejos; Juan Perucho; Jose L Luis Lopez Sendon; Justo G Garcia de Yebenes; Conceicao Bettencourt; Ana Gomez; Carolina Ruiz; Peter Heutink; Patrizia Rizzu; Maria A Angeles Mena;
PUBLISHED: 2014, SOURCE: PLOS ONE, VOLUME: 9, ISSUE: 9
AUTHORS: Maria J Jose Casarejos; Juan Perucho; Jose L Luis Lopez Sendon; Justo G Garcia de Yebenes; Conceicao Bettencourt; Ana Gomez; Carolina Ruiz; Peter Heutink; Patrizia Rizzu; Maria A Angeles Mena;
PUBLISHED: 2014, SOURCE: PLOS ONE, VOLUME: 9, ISSUE: 9
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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: "Mimicking" capacity of spinocerebellar ataxia type 3: The details matter Full Text
AUTHORS: Conceicao Bettencourt; Manuela Lima ;
PUBLISHED: 2013, SOURCE: JOURNAL OF THE NEUROLOGICAL SCIENCES, VOLUME: 326, ISSUE: 1-2
AUTHORS: Conceicao Bettencourt; Manuela Lima ;
PUBLISHED: 2013, SOURCE: JOURNAL OF THE NEUROLOGICAL SCIENCES, VOLUME: 326, ISSUE: 1-2
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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
