ML
Maria Manuela de Medeiros Lima
Entidades de I&D
FCT - Faculdade de Ciências e Tecnologia
Perfis Externos
Áreas de Conhecimento
Palavras-Chave
Entidades Financiadoras
Programa Regional AÇORES 2030 (FEDER)
Direção Regional da Ciência, Inovação e Desenvolvimento
Fundo Regional da Ciência e Tecnologia
Fundação para a Ciência e Tecnologia (OE)
Direção Regional da Ciência e da Tecnologia
Outras Fontes de Financiamento
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de 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
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
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3
The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research
Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease
A importância das associações de doentes na investigação científica.
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
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing
Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3
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
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
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
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
Populações Homogéneas: uma mais-valia para os estudos biomédicos.
Towards the identification of molecular biomarkers of spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD)
A «aceitação» em portadores assintomáticos e sintomáticos da doença de Machado-Joseph
De Mendel à genómica: a genética humana no século XXI.
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
Anthropology: Current and Future Developments
Complicities Between Forensic Anthropology and Forensic Genetics: New Opportunities for Genomics?
DNA damage in oral epithelial cells of individuals chronically exposed to indoor radon (222Rn) in a hydrothermal area
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
Genomics of Isolated Populations: Inferences for Gene-Finding Studies
Human Genomic Projects: Setting the Stage for Genome-Scale Anthropological Studies
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
Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias
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
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.
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
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
Genetics at different levels in machado-joseph disease (MJD/SCA3): Cause, modifiers and therapy
Genetics in Ankylosing Spondylitis – Beyond HLA-B*27
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3
Human Papillomavirus Worldwide Distribution in Women Without Cervical Cancer
Molecular Diagnosis of Human Papillomavirus
Non-Mendelian Genetic Aspects in Spinocerebellar Ataxias (SCAS): The Case of Machado-Joseph Disease (MJD)
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).
The increasing number of SCA loci: Contributes from classical genetics and new genomics
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.
Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs.
Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).
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
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)
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
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
Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)
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
Doença de Machado-Joseph na ilha do Pico (Açores)
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)
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.
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).
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)
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).
12 Projetos de Investigação
Estudo integrado para a compreensão de aspetos genéticos e de saúde na doença de Machado-Joseph
Estudo da instabilidade somática associada a expansões de tripletos CAG e de proteínas relacionadas com a reparação do DNA como alvos terapêuticos para a ataxia espinocerebelosa do tipo 3
ESMI@Azores 2024
ESMI (Iniciativa Europeia para a Ataxia Espinocerebelosa do tipo 3/doença de Machado-Joseph)
ESMI (Iniciativa Europeia para a Ataxia Espinocerebelosa do tipo 3/doença de Machado-Joseph)
3RD ESMI MEETING@AZORES
Apoptosis-Related Genes BCL2, BAX And TP53 As Biomarkers Of Machado-Joseph Disease (MJD/SCA3)
EXOS3 - Sequenciação do exoma de pares discordantes….com ataxia espino-cerebelosa do tipo 3 (SCA3): uma ferramenta...e investigar vias moleculares alteradas
ESMI (Iniciativa Europeia para a Ataxia Espinocerebelosa do tipo 3/doença de Machado-Joseph)
Participação em Reuniões de Planificação de um ensaio clínico multicêntrico, randomizado e duplamente cego para a doença de Machado-Joseph
Biologia - Um ano a divulgar a nossa Ciência
V Workshop Machado Joseph Disease
2 Prestações de Serviço
Formação
Formação
| 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 |
Otro Biologia/Geologia Universidade dos Açores, Portugal (TESE/DISSERTAÇÃO) "n/a" |
Áreas de Conhecimento
Biografia
Entidades
Entidades de I&D
FCT - Faculdade de Ciências e Tecnologia
Entidades Parceiras
Meka Center - Clínica da Mulher - Mendonça & Kay, Lda. (Copromotor)
FGF - Fundação Gaspar Frutuoso, FP (Instituição Coordenadora)
HSEIT - Hospital de Santo Espírito da Ilha Terceira, EPER (Copromotor)
Entidades Financiadoras
Programa Regional AÇORES 2030 (FEDER)
Direção Regional da Ciência, Inovação e Desenvolvimento
Fundo Regional da Ciência e Tecnologia
Fundação para a Ciência e Tecnologia (OE)
Direção Regional da Ciência e da Tecnologia