ML
Maria Manuela de Medeiros Lima
lima, manuela | manuela lima | lima m
I developed the research for my Doctorate in the area of Human Genetics, with the study of a neurodegenerative disorder, Machado-Joseph disease(MJD)/Spinocerebellar ataxia type 3 (SCA3), particularly prevalent in the Azores Islands. I have invested in the historical genetics and epidemiology of the disease in the Azores, and was particularly interested in understanding how a seemingly simple monogenic disease could be so complex.
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FCT - Faculdade de Ciências e Tecnologia
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Direção Regional da Ciência, Inovação e Desenvolvimento
Fundo Regional da Ciência e Tecnologia
Fundação para a Ciência e Tecnologia
Direção Regional da Ciência e da Tecnologia
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of 115 Publicações
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3
Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease
Age-dependent somatic expansion of theATXN3CAG repeat in the blood and buccal cell DNA of individuals with spinocerebellar ataxia type 3
Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of Spinocerebellar ataxia type 3
2024
Duarte-Silva, Sara; Da Silva, Jorge Diogo; Monteiro-Fernandes, Daniela; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; et al
Journal of Clinical Investigation
A standardized protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3
2023
Mafalda Raposo; Jeannette Hübener-Schmid; Ana F Ferreira; Ana Rosa Vieira Melo; João Vasconcelos; Paula Pires; Teresa Kay; et al
Brain
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias
2023
Uebachs, Mischa; Wegner, Philipp; Schaaf, Sebastian; Kugai, Simon; Jacobi, Heike; Kuo, Sheng-Han; Ashizawa, Tetsuo; et al
The Cerebellum
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3
2023
Faber, Jennifer; Berger, Moritz; Wilke, Carlo; Hubener-Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M
Annals of Neurology
The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research
2023
Lima, Manuela; Raposo, Mafalda; Ferreira, Ana; Melo, Ana Rosa Vieira; Pavão, Sara; Medeiros, Filipa; Teves, Luís; et al
Biomedicines
Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease
A importância das associações de doentes na investigação científica.
2022
Mafalda Sofia Bastos Raposo; Manuela Lima
UAciência - Açoriano Oriental
Ciência Vitae
Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3
Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3
2022
Melo, Ana Rosa Vieira; Raposo, Mafalda; Ventura, Marta; Martins, Sandra; Pavão, Sara; Alonso, Isabel; Bettencourt, Conceição; Lima, Manuela
The Cerebellum
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing
2022
Raposo, Mafalda; Bettencourt, Conceição; Melo, Ana Rosa Vieira; Ferreira, Ana F
Neurobiology of Disease
Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
2022
Daniela Couto; Liliana Sousa; Jorge Sequeiros; Manuela Lima; Álvaro Mendes
Journal of Community Genetics
Ciência Vitae
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3
2022
Garcia-Moreno, Hector; Prudencio, Mercedes; Thomas-Black, Gilbert; Solanky, Nita; Jansen-West, Karen R
European Journal of Neurology
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood
2021
Hübener-Schmid, Jeannette; Kuhlbrodt, Kirsten; Peladan, Julien; Faber, Jennifer; Santana, Magda M
Movement Disorders
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
Neurofilaments as blood biomarkers at the preataxic and ataxic stage of spinocerebellar ataxia type 3: a cross-species analysis in humans and mice.
The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich ataxia
2020
Yau, Wai Yan; Raposo, Mafalda; Bettencourt, Conceição; Labrum, Robyn; Vasconcelos, João; Parkinson, Michael H; Giunti, Paola; et al
Brain
Selection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects
Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease
2018
Raposo, Mafalda; Ramos, Amanda; Santos, Cristina; Kazachkova, Nadiya; Teixeira, Balbina; Bettencourt, Conceição; Lima, Manuela
Molecular Neurobiology
Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin
Mitochondrial DNA haplogroups and age at onset of Machado–Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations
Non-classical human leucocyte antigens in ankylosing spondylitis: possible association with HLA-E and HLA-F
2018
Santos, Margarida Rodrigues; Couto, Ana Rita; Foroni, Iris; Bettencourt, Bruno Filipe; Li, Zhixiu; Meneses, Raquel; Wheeler, Lawrie; et al
RMD Open
Populações Homogéneas: uma mais-valia para os estudos biomédicos.
2018
Manuela Lima
UAciência - Açoriano Oriental
Ciência Vitae
Towards the identification of molecular biomarkers of spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD)
2018
Lima, M
Ciência Vitae
A «aceitação» em portadores assintomáticos e sintomáticos da doença de Machado-Joseph
2017
Lima, Manuela; González, Carlos; Vieira, Sara; Araújo, Conceição; Kazachkova, Nadiya; Raposo, Mafalda; Vasconcelos, João; Kay, Teresa; Lima, Manuela
Mindfulness & Compassion
De Mendel à genómica: a genética humana no século XXI.
2017
Manuela Lima
UAciência - Açoriano Oriental
Ciência Vitae
Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease
Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients
2017
Lima, Manuela; Raposo, Mafalda; Bettencourt, Conceição; Ramos, Amanda; Kazachkova, Nadiya; Vasconcelos, João; Kay, Teresa; Bruges-Armas, Jácome; Lima, Manuela
NeuroMolecular Medicine
Anthropology: Current and Future Developments
2016
Lima, Manuela; Amanda Ramos
Ciência Vitae
Complicities Between Forensic Anthropology and Forensic Genetics: New Opportunities for Genomics?
2016
"Complicities Between Forensic Anthropology and Forensic Genetics: New Opportunities for Genomics?"
Ciência Vitae
DNA damage in oral epithelial cells of individuals chronically exposed to indoor radon (222Rn) in a hydrothermal area
2016
Linhares, Diana Paula Silva; Garcia, Patrícia Ventura; Silva, Catarina; Barroso, Joana; Kazachkova, Nadya; Pereira, Rui; Lima, Manuela; et al
Environmental Geochemistry and Health
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
Genomics of Isolated Populations: Inferences for Gene-Finding Studies
2016
Lima, Manuela
Ciência Vitae
Human Genomic Projects: Setting the Stage for Genome-Scale Anthropological Studies
2016
Lima, Manuela
Ciência Vitae
Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3)
Differential mtDNA damage patterns in a transgenic mouse model of Machado-Joseph disease (MJD/SCA3)
Gitelmans Syndrome Associated with Chondrocalcinosis: A Case Study from the Azores Islands (Portugal)
Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease
Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?
Towards A Therapeutic Intervention in Polyglutamine Ataxias: From Models to Clinical Trials
2015
Nadya Kazachkova; Manuela Lima; Lima, Manuela
Frontiers in Clinical Drug Research - CNS and Neurological Disorders
Ciência Vitae
Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias
2015
Ramos, Amanda; Raposo, Mafalda; Milà, Montserrat; Bettencourt, Conceição; Houlden, Henry; Cisneros, Bulmaro; Magaña, Jonathan J
Journal of Molecular Neuroscience
Da investigação aos ensaios clínicos : desafios e oportunidades para a doença de Machado-Joseph
Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal)
HLA-E, HLA-F and HLA-G — The Non-Classical Side of the MHC Cluster
2014
Foroni, Iris; Rita, Ana; Filipe, Bruno; Santos, Margarida; Lima, Manuela; Bruges-Armas, Jcome
HLA and Associated Important Diseases
Ciência Vitae
Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3)
"Mimicking" capacity of spinocerebellar ataxia type 3: The details matter
Doença de Machado-Joseph: à procura de biomarcadores moleculares.
2013
Manuela Lima; Mafalda Sofia Bastos Raposo; Armas, Jacome; Vasconcelos, João
Revista Azores Magazine
Ciência Vitae
Mitochondrial DNA Damage Patterns and Aging: Revising the Evidences for Humans and Mice.
Mitochondrial DNA damage patterns and aging: Revising the evidences for humans and mice
Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease
2013
Kazachkova, Nadiya; Raposo, Mafalda; Montiel, Rafael; Cymbron, Teresa; Bettencourt, Conceição; Fernandes, Anabela Silva; Silva, Sara Carina Duarte; Maciel, P
Protective effect of an ERAP1 haplotype in ankylosing spondylitis: Investigating non-MHC genes in HLA-B27-positive individuals
Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions
Doença de Machado-Joseph: ratinho transgénico revela alterações relacionadas com a produção de energia nas células
2012
Manuela Lima
Revista Azores Magazine
Ciência Vitae
Genetics at different levels in machado-joseph disease (MJD/SCA3): Cause, modifiers and therapy
2012
Bettencourt, C
Ciência Vitae
Genetics in Ankylosing Spondylitis – Beyond HLA-B*27
2012
Filipe, Bruno; Foroni, Iris; Rita, Ana; Lima, Manuela; Bruges-Armas, Jcome
Clinical and Molecular Advances in Ankylosing Spondylitis
Ciência Vitae
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3
Human Papillomavirus Worldwide Distribution in Women Without Cervical Cancer
2012
Dutra, I
Human Papillomavirus and Related Diseases - From Bench to Bedside - Research aspects
Ciência Vitae
Molecular Diagnosis of Human Papillomavirus
2012
Dutra, I
Human Papillomavirus and Related Diseases - From Bench to Bedside - Research aspects
Ciência Vitae
Non-Mendelian Genetic Aspects in Spinocerebellar Ataxias (SCAS): The Case of Machado-Joseph Disease (MJD)
2012
Lima, Manuela; Bruges-Armas, Jcome; Bettencourt, Conceio
Spinocerebellar Ataxia
Ciência Vitae
Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the machado-joseph disease mutation
Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).
2012
Bettencourt C; Raposo M; Kazachkova N; Santos C; Kay T; Vasconcelos J; Maciel P; et al
The increasing number of SCA loci: Contributes from classical genetics and new genomics
2012
Bettencourt, C
Ciência Vitae
Cross-sectional study of risk factors for atherosclerosis in the Azorean population
Machado-Joseph Disease: from first descriptions to new perspectives.
Nuclear insertions of mitochondrial origin: Database updating and usefulness in cancer studies
Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): A two-case report
The APOE e2 allele increases the risk of earlier age at onset in Machado-Joseph disease.
2011
Bettencourt C; Raposo M; Kazachkova N; Cymbron T; Santos C; Kay T; Vasconcelos J; et al
Archives of Neurology
Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs.
2010
Silva F; Pereira R; Gusmão L; Santos C; Amorim A; Prata MJ; Bettencourt C; Lourenço P; Lima M
Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).
2010
Bettencourt C; Santos C; Montiel R; Costa Mdo C; Cruz-Morales P; Santos LR; Simões N; et al
Mitochondrial DNA patterns in the Macaronesia islands: Variation within and among archipelagos.
The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.
Todos iguais, todos diferentes : a variabilidade genética humana.
Assessment of some atherosclerosis risk factors in apparently healthy subjects from two Azorean populations
2009
Ferin, Rita; Lima, Manuela; Pavão, Maria Leonor
Ciência Vitae
Genetic structure of the Azores Islands: a study using 15 autosomal short tandem repeat loci.
Genetic structure of the azores islands: A study using 15 autosomal short tandem repeat loci | Geneticka struktura azorskog otocja: Studija 15 autosomnih kratkih ponavljaju]ih slijedova (STR)
Relationship of the APOE polymorphism and lipid profile: A population-based study in the Azores Islands (Portugal)
2009
Raposo, Mafalda; Dahmani, Yahya; Silva, Francisca; Tavares, M
Ciência Vitae
The coexistence of ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis--a postmortem diagnosis.
Trace metals and over-expression of metallothioneins in bladder tumoral lesions: a case-control study
2009
Amaral, André; Cymbron, Teresa; Gärtner, Fátima; Lima, Manuela; Rodrigues, Armindo; Amaral, A
BMC Veterinary Research
A doença de Machado-Joseph na Ilha das Flores : actualização de dados epidemiológicos
Analysis of segregation patterns in Machado-Joseph disease pedigrees.
Mitochondrial DNA Mutations in Cancer: A Review
Mutation patterns of mtDNA: empirical inferences for the coding region.
Rastreio de factores de risco dominantes de aterosclerose na Ilha das Flores
2008
Ferin, Rita; Dahmani, Yahya; Lima, Manuela; Gonçalves, Bruno; Rosário, Orlando; Gil, Ana; Dias, Emiliana; César, Rui; Pavão, Maria Leonor
Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)
2008
Bettencourt, Conceição; Fialho, Raquel Nunes; Santos, Cristina; Montiel, Rafael; Bruges-Armas, Jácome; Maciel, P
Testing hierarchical levels of population sub-structuring: The Azores islands (Portugal) as a case study
The African contribution to the present-day population of the Azores Islands (Portugal): analysis of the Y chromosome haplogroup E.
Diversity of maternal and paternal lineages in the geographic extremes of the Azores (Santa Maria and Flores Islands): Insights from mtDNA, Y-chromosome and surname data
2006
Bettencourt, C
Ciência Vitae
Doença de Machado-Joseph na ilha do Pico (Açores)
2006
Lima, Manuela; Maciel, Mercês; Kay, Teresa; Bettencourt, Conceição; Vasconcelos, João
Peopling, demographic history and genetic structure of the Azores Islands: Integrating data from mtDNA and Y-chromosome
Polymorphism of the APOE locus in the Azores Islands (Portugal)
2006
Bettencourt, Conceição; Montiel, Rafael; Santos, Cristina; Pavão, Maria Leonor; Viegas-Crespo, Ana Maria; Lopes, Paula Alexandra; Lima, Manuela; et al
Human Biology
Analysis of Y-chromosome variability and its comparison with mtDNA variability reveals different demographic histories between islands in the Azores Archipelago (Portugal)
Genetic structure of Flores island (Azores, Portugal) in the 19th century and in the present day: Evidence from surname analysis
MtDNA diversity among four Portuguese autochthonous dog breeds: a fine-scale characterisation.
Peopling of the Azores Islands (Portugal): data from the Y chromosome.
2005
Fernando O; Mota P; Lima M; Silva C; Montiel R; Amorim A; Prata MJ; et al
Human Biology
Population Genetics of Wild-Type CAG Repeats in the <i>Machado-Joseph Disease</i> Gene in Portugal
Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal).
2005
Santos C; Montiel R; Sierra B; Bettencourt C; Fernandez E; Alvarez L; Lima M; Abade A; Aluja MP
Determination of human caucasian mitochondrial DNA haplogroups by means of a hierarchical approach
Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal).
Genetic structure and origin of peopling in the Azores Islands (Portugal): The view from mtDNA
Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal)
Natural selection at the MJD locus: Phenotypic diversity, survival and fertility among Machado-Joseph Disease patients from the Azores
Difusão de genes deletérios : epidemiologia genética e genética populacional.
Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal)
1998
Lima, Manuela; Coutinho, Paula; Abade, Augusto; Vasconcelos, João; Mayer, Francine M
Archives of Neurology
Origins of a mutation: Population genetics of Machado-Joseph disease in the Azores (Portugal)
Prevalence, geographic distribution, and genealogical investigation of Machado-Joseph disease in the Azores (Portugal)
Genética histórica da doença de Machado-Joseph nos Açores : reconstrução genealógica das famílias afectadas da Terceira e Graciosa.
Child abandonment and illegitimacy in the Island of São Jorge (Azores-Portugal).
Historical abandonment of children in the Azores, Portugal.
Consanguinidade, endogamia e ilegitimidade na Freguesia de São Roque do Pico (Açores).
10 Research Projects
CC1227
Direção Regional da Ciência, Inovação e Desenvolvimento
FCT
ESMI@Azores 2024
CC1203
Fundo Regional da Ciência e Tecnologia
FCT
ESMI (European Initiative for Spinocerebellar Ataxia type 3/Machado-Joseph disease)
CC1043
Fundo Regional da Ciência e Tecnologia
FCT
ESMI (European Initiative for Spinocerebellar Ataxia type 3/Machado-Joseph disease)
CC741
Direção Regional da Saúde
FCT
3RD ESMI MEETING@AZORES
CC726
National Ataxia Foundation
FCT
Apoptosis-Related Genes BCL2, BAX And TP53 As Biomarkers Of Machado-Joseph Disease (MJD/SCA3)
CC579
Fundação para a Ciência e Tecnologia
FCT
EXOS3 - Sequencing of the exome of discordant pairs….with spinocerebellar ataxia type 3 (SCA3): a tool… and to investigate altered molecular pathways
CC567
Fundação para a Ciência e Tecnologia
FCT
ESMI (European Initiative for Spinocerebellar Ataxia type 3/Machado-Joseph disease)
CC417
Direção Regional da Ciência e da Tecnologia
FCT
Participation in Planning Meetings of a multicenter, randomized, double-blind clinical trial for Machado-Joseph disease
CC352
Direção Regional da Ciência e da Tecnologia
FCT
Biology - A year to promote our Science
CC164
Outras Fontes de Financiamento
• Direção Regional da Ciência e da Tecnologia
FCT
V Workshop Machado Joseph Disease
2 Services Provisions
Training
Training
| 2011/01/31 |
Título de Agregado Genética Humana Especialização em Genética Humana Universidade dos Açores, Portugal |
| 1996 |
Doutoramento Doutoramento em Biologia Especialização em Outra:Antropologia Física Universidade dos Açores, Portugal (TESE/DISSERTAÇÃO) "Doença do Machado-joseph Nos Açores: Estudo Epidemiológico, Biodemográfico e Genético" |
| 1989 |
Other Biologia/Geologia Universidade dos Açores, Portugal (TESE/DISSERTAÇÃO) "n/a" |
Áreas de Conhecimento
Biography
I developed the research for my Doctorate in the area of Human Genetics, with the study of a neurodegenerative disorder, Machado-Joseph disease(MJD)/Spinocerebellar ataxia type 3 (SCA3), particularly prevalent in the Azores Islands. I have invested in the historical genetics and epidemiology of the disease in the Azores, and was particularly interested in understanding how a seemingly simple monogenic disease could be so complex. This interrogation was the starting point from which molecular-oriented research on MJD has emerged. The extensively studied Azorean pedigrees and the existence of a homogeneous cohort which has been thoroughly followed for several years have allowed the development of studies on several aspects of this disease, which have been developed under my coordination. My research group has focused on molecular mechanisms of MJD (such as alternative splicing), patterns of transmission, particular clinical presentations, genetic modifiers and molecular biomarkers. In the last four years we have been integrated the European ESMI Consortium, which has been establish to organize a large trial ready cohort of MJD patients. The high prevalence of MJD in the Azores supports a close collaboration between researchers and patients, namely through the “Associação Atlântica de Apoio ao doente de Machado-Joseph” a patient’s organization that has been playing a fundamental role in the Azores.
