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List of works by Manuela Lima

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

scientific article published on 21 April 2018

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

scientific article published on 16 September 2018

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

scientific article

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

scientific article published on 9 August 2008

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

scientific article

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

scientific article published in October 1998

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

scientific article published on 15 February 2011

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

scientific article

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

scientific article published on 04 April 2016

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

scientific article published on 8 July 2014

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

scientific article published in January 2001

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

scientific article

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

scientific article

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

scientific article published on September 2003

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

scientific article published in June 2005

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

scientific article

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).

scientific article

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

scientific article published on June 2, 2011

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

scientific article

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.

scientific article published on January 2008

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

scientific article published in April 2010

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

scientific article

Mutation patterns of mtDNA: empirical inferences for the coding region

scientific article

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

scientific article published on 28 June 2018

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

scientific article published on 25 April 2015

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

scientific article (publication date: November 2011)

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

scientific article published on 22 January 2014

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

scientific article

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

scientific article

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

scientific article

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).

scientific article published in August 2006

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

scientific article

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

scientific article

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

scientific article published on 31 May 2016

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

scientific article

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

scientific article

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

scientific article published on 14 July 2015

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

scientific article published on 20 February 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).

scientific article

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

scientific article published on 24 October 2007

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

scientific article published on 25 November 2009

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

scientific article published on 01 December 2011

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

scientific article published in November 2007

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

scientific article published on 17 December 2008

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

scientific article published in January 2018

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

scientific article published on 11 November 2009

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

scientific article published on 16 June 2012

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

scientific article published on 20 September 2016

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

scientific article published on 6 April 2005

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

scientific article published on 10 October 2015

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

scientific article published on February 13, 2013

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