Ana Rosa Vieira Melo
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Explore the profile of Ana Rosa Vieira Melo including associated specialties, affiliations and a list of published articles.
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11
Citations
28
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Recent Articles
1.
Elter T, Sturm D, Santana M, Schaprian T, Raposo M, Melo A, et al.
J Neurol
. 2024 Dec;
272(1):54.
PMID: 39666145
Introduction: Knowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in...
2.
Sidky A, Melo A, Kay T, Raposo M, Lima M, Monckton D
Hum Genet
. 2024 Oct;
143(11):1363-1378.
PMID: 39375222
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is caused by the expansion of a genetically unstable polyglutamine-encoding CAG repeat in ATXN3. Longer alleles are generally associated with earlier onset and frequent...
3.
Teves L, Melo A, Ferreira A, Raposo M, Lemos C, Bettencourt C, et al.
Epigenetics
. 2024 Jun;
19(1):2368995.
PMID: 38900099
Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia (SCA) caused by a polyglutamine expansion in the ataxin-3 protein, which initiates a cascade of pathogenic events, including transcriptional dysregulation. Genotype-phenotype...
4.
Raposo M, Hubener-Schmid J, Tagett R, Ferreira A, Melo A, Vasconcelos J, et al.
Neurobiol Dis
. 2024 Feb;
193:106456.
PMID: 38423193
Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) is a heritable proteinopathy disorder, whose causative gene, ATXN3, undergoes alternative splicing. Ataxin-3 protein isoforms differ in their toxicity, suggesting that certain ATXN3...
5.
Faber J, Berger M, Wilke C, Hubener-Schmid J, Schaprian T, Santana M, et al.
Ann Neurol
. 2023 Nov;
95(2):400-406.
PMID: 37962377
Spinocerebellar ataxia type 3/Machado-Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed. We analyzed cross-sectional...
6.
Faber J, Berger M, Carlo W, Hubener-Schmid J, Schaprian T, Santana M, et al.
medRxiv
. 2023 May;
PMID: 37163081
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3) is the most common autosomal dominant ataxia. In view of the development of targeted therapies for SCA3, precise knowledge of stage-dependent fluid and MRI...
7.
Raposo M, Hubener-Schmid J, Ferreira A, Melo A, Vasconcelos J, Pires P, et al.
Brain
. 2023 Apr;
146(10):4132-4143.
PMID: 37071051
Transcriptional dysregulation has been described in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), an autosomal dominant ataxia caused by a polyglutamine expansion in the ataxin-3 protein. As ataxin-3 is ubiquitously expressed,...
8.
Lima M, Raposo M, Ferreira A, Melo A, Pavao S, Medeiros F, et al.
Biomedicines
. 2023 Feb;
11(2).
PMID: 36830784
Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal...
9.
Melo A, Raposo M, Ventura M, Martins S, Pavao S, Alonso I, et al.
Cerebellum
. 2022 Jan;
22(1):37-45.
PMID: 35034258
Untranslated regions are involved in the regulation of transcriptional and post-transcriptional processes. Characterization of these regions remains poorly explored for ATXN3, the causative gene of Machado-Joseph disease (MJD). Although a...
10.
Raposo M, Bettencourt C, Melo A, Ferreira A, Alonso I, Silva P, et al.
Neurobiol Dis
. 2021 Dec;
162:105578.
PMID: 34871736
Machado-Joseph disease (MJD/SCA3) is a neurodegenerative polyglutamine disorder exhibiting a wide spectrum of phenotypes. The abnormal size of the (CAG)n at ATXN3 explains ~55% of the age at onset variance,...