Lista de obras - Manuela Lima - Dominio Público Uruguay

Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease.

artículo científico publicado en 2018

Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin

artículo científico publicado en 2018

Analysis of Y-chromosome variability and its comparison with mtDNA variability reveals different demographic histories between islands in the Azores Archipelago (Portugal).

artículo científico publicado en 2005

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

artículo científico publicado en 2008

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

artículo científico publicado en 2000

Causes of death in Machado-Joseph disease: a case-control study in the Azores (Portugal).

artículo científico publicado en 1998

Cross-sectional study of risk factors for atherosclerosis in the Azorean population.

artículo científico publicado en 2011

DNA damage in oral epithelial cells of individuals chronically exposed to indoor radon ((222)Rn) in a hydrothermal area.

artículo científico publicado en 2016

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

artículo científico publicado en 2016

Differential mtDNA damage patterns in a transgenic mouse model of Machado-Joseph disease (MJD/SCA3).

artículo científico publicado en 2014

Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal).

artículo científico publicado en 2001

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

artículo científico publicado en 2014

Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs.

artículo científico publicado en 2010

Genetic structure and origin of peopling in the Azores islands (Portugal): the view from mtDNA.

artículo científico publicado en 2003

Genetic structure of Flores island (Azores, Portugal) in the 19th century and in the present day: evidence from surname analysis

artículo científico publicado en 2005

Genetic structure of the Azores Islands: a study using 15 autosomal short tandem repeat loci

artículo científico publicado en 2009

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

article

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

artículo científico publicado en 2009

Machado-Joseph Disease: from first descriptions to new perspectives ⬇️

artículo científico publicado el 2 de junio de 2011

Mitochondrial DNA damage patterns and aging: revising the evidences for humans and mice

artículo científico publicado en 2013

Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations

scientific article published on 07 December 2018

Mitochondrial DNA mutations in cancer: a review.

artículo científico publicado en 2008

Mitochondrial DNA patterns in the Macaronesia islands: Variation within and among archipelagos

artículo científico publicado en 2010

MtDNA diversity among four Portuguese autochthonous dog breeds: a fine-scale characterisation

artículo científico publicado en 2005

Mutation patterns of mtDNA: empirical inferences for the coding region

artículo científico publicado en 2008

Non-classical human leucocyte antigens in ankylosing spondylitis: possible association with HLA-E and HLA-F.

artículo científico publicado en 2018

Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease

artículo científico publicado en 2015

Nuclear insertions of mitochondrial origin: Database updating and usefulness in cancer studies

artículo científico publicado en 2011

Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).

artículo científico publicado en 2014

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

artículo científico publicado en 2011

Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease.

artículo científico publicado en 2012

Peopling of the Azores Islands (Portugal): data from the Y chromosome

artículo científico publicado en 2005

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).

artículo científico publicado en 2006

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal

artículo científico publicado en 2005

Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease

artículo científico publicado en 2017

Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients

artículo científico publicado en 2016

Protective effect of an ERAP1 haplotype in ankylosing spondylitis: investigating non-MHC genes in HLA-B27-positive individuals

artículo científico publicado en 2013

Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation

artículo científico publicado en 2012

Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?

artículo científico publicado en 2015

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

artículo científico publicado en 2008

Selection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects

scientific article published on 08 July 2019

Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3)

article

Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal).

artículo científico publicado en 2004

Testing hierarchical levels of population sub-structuring: the Azores islands (Portugal) as a case study

artículo científico publicado en 2007

The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.

artículo científico publicado en 2009

The APOE ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease

artículo científico publicado en 2011

The African contribution to the present-day population of the Azores Islands (Portugal): analysis of the Y chromosome haplogroup E.

artículo científico publicado en 2007

The coexistence of ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis—a postmortem diagnosis

artículo científico publicado en 2008

Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD).

artículo científico publicado en 2018

Trace metals and over-expression of metallothioneins in bladder tumoral lesions: a case-control study.

artículo científico publicado en 2009

Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions

artículo científico publicado en 2012

Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).

artículo científico publicado en 2016

Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal).

artículo científico publicado en 2005

Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias

artículo científico publicado en 2015

“Mimicking” capacity of spinocerebellar ataxia type 3: The details matter ⬇️

artículo científico publicado el 13 de febrero de 2013

Lista de obras de Manuela Lima

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

Analysis of Y-chromosome variability and its comparison with mtDNA variability reveals different demographic histories between islands in the Azores Archipelago (Portugal).

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

Causes of death in Machado-Joseph disease: a case-control study in the Azores (Portugal).

Cross-sectional study of risk factors for atherosclerosis in the Azorean population.

DNA damage in oral epithelial cells of individuals chronically exposed to indoor radon ((222)Rn) in a hydrothermal area.

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

Differential mtDNA damage patterns in a transgenic mouse model of Machado-Joseph disease (MJD/SCA3).

Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal).

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs.

Genetic structure and origin of peopling in the Azores islands (Portugal): the view from mtDNA.

Genetic structure of Flores island (Azores, Portugal) in the 19th century and in the present day: evidence from surname analysis

Genetic structure of the Azores Islands: a study using 15 autosomal short tandem repeat loci

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

Machado-Joseph Disease: from first descriptions to new perspectives ⬇️

Mitochondrial DNA damage patterns and aging: revising the evidences for humans and mice

Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations

Mitochondrial DNA mutations in cancer: a review.

Mitochondrial DNA patterns in the Macaronesia islands: Variation within and among archipelagos

MtDNA diversity among four Portuguese autochthonous dog breeds: a fine-scale characterisation

Mutation patterns of mtDNA: empirical inferences for the coding region

Non-classical human leucocyte antigens in ankylosing spondylitis: possible association with HLA-E and HLA-F.

Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease

Nuclear insertions of mitochondrial origin: Database updating and usefulness in cancer studies

Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease.

Peopling of the Azores Islands (Portugal): data from the Y chromosome

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).

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal

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

Protective effect of an ERAP1 haplotype in ankylosing spondylitis: investigating non-MHC genes in HLA-B27-positive individuals

Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation

Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

Selection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects

Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3)

Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal).

Testing hierarchical levels of population sub-structuring: the Azores islands (Portugal) as a case study

The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.

The APOE ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease

The African contribution to the present-day population of the Azores Islands (Portugal): analysis of the Y chromosome haplogroup E.

The coexistence of ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis—a postmortem diagnosis

Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD).

Trace metals and over-expression of metallothioneins in bladder tumoral lesions: a case-control study.

Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions

Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).

Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal).

Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias

“Mimicking” capacity of spinocerebellar ataxia type 3: The details matter ⬇️