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List of works by Mafalda Raposo

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

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

scientific article published on 15 February 2011

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

scientific article published on 04 April 2016

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

scientific article

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

scientific article published on 23 March 2020

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

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

scientific article published on 25 April 2015

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

scientific article published on 22 January 2014

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

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

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

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

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

scientific article published in January 2018

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

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

scientific article published on 10 October 2015

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