about
Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutationDNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseasesNystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).Cross-sectional study of risk factors for atherosclerosis in the Azorean population.Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease.Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease.Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD).Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?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 originSequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3)Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populationsPromoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) PatientsTranscript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regionsGenome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph diseaseSelection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Mafalda Raposo
@ast
Mafalda Raposo
@en
Mafalda Raposo
@es
Mafalda Raposo
@nl
Mafalda Raposo
@sl
type
label
Mafalda Raposo
@ast
Mafalda Raposo
@en
Mafalda Raposo
@es
Mafalda Raposo
@nl
Mafalda Raposo
@sl
prefLabel
Mafalda Raposo
@ast
Mafalda Raposo
@en
Mafalda Raposo
@es
Mafalda Raposo
@nl
Mafalda Raposo
@sl
P106
P21
P31
P496
0000-0001-6899-0352