Vasconcelos J - Search Results

1

Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.

Raposo M, Hübener-Schmid J, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M. Raposo M, et al. Among authors: vasconcelos j. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051

2

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

Lima M, Coutinho P, Abade A, Vasconcelos J, Mayer FM. Lima M, et al. Among authors: vasconcelos j. Arch Neurol. 1998 Oct;55(10):1341-4. doi: 10.1001/archneur.55.10.1341. Arch Neurol. 1998. PMID: 9779663

3

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

Lima M, Kay T, Vasconcelos J, Mota-Vieira L, Gonzalez C, Peixoto A, Abade A, MacLeod P, Graca R, Santos J. Lima M, et al. Among authors: vasconcelos j. Community Genet. 2001;4(1):36-42. doi: 10.1159/000051154. Community Genet. 2001. PMID: 11493751

4

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

Bettencourt C, Santos C, Kay T, Vasconcelos J, Lima M. Bettencourt C, et al. Among authors: vasconcelos j. J Hum Genet. 2008;53(10):920-923. doi: 10.1007/s10038-008-0330-y. Epub 2008 Aug 9. J Hum Genet. 2008. PMID: 18688568

5

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

Bettencourt C, Santos C, Montiel R, Costa Mdo C, Cruz-Morales P, Santos LR, Simões N, Kay T, Vasconcelos J, Maciel P, Lima M. Bettencourt C, et al. Among authors: vasconcelos j. Neurogenetics. 2010 May;11(2):193-202. doi: 10.1007/s10048-009-0216-y. Epub 2009 Aug 28. Neurogenetics. 2010. PMID: 19714377

6

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

Bettencourt C, Santos C, Montiel R, Kay T, Vasconcelos J, Maciel P, Lima M. Bettencourt C, et al. Among authors: vasconcelos j. Eur J Hum Genet. 2010 May;18(5):621-3. doi: 10.1038/ejhg.2009.215. Epub 2009 Nov 25. Eur J Hum Genet. 2010. PMID: 19935829 Free PMC article.

7

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

Bettencourt C, Santos C, Coutinho P, Rizzu P, Vasconcelos J, Kay T, Cymbron T, Raposo M, Heutink P, Lima M. Bettencourt C, et al. Among authors: vasconcelos j. BMC Neurol. 2011 Oct 24;11:131. doi: 10.1186/1471-2377-11-131. BMC Neurol. 2011. PMID: 22023810 Free PMC article.

8

The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease.

Bettencourt C, Raposo M, Kazachkova N, Cymbron T, Santos C, Kay T, Vasconcelos J, Maciel P, Donis KC, Saraiva-Pereira ML, Jardim LB, Sequeiros J, Lima M. Bettencourt C, et al. Among authors: vasconcelos j. Arch Neurol. 2011 Dec;68(12):1580-3. doi: 10.1001/archneurol.2011.636. Arch Neurol. 2011. PMID: 22159055

9

Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).

Bettencourt C, Raposo M, Kazachkova N, Santos C, Kay T, Vasconcelos J, Maciel P, Donis KC, Saraiva-Pereira ML, Jardim LB, Sequeiros J, Bruges-Armas J, Lima M. Bettencourt C, et al. Among authors: vasconcelos j. Cerebellum. 2012 Dec;11(4):1045-50. doi: 10.1007/s12311-012-0373-7. Cerebellum. 2012. PMID: 22422287

10

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

Gonzalez C, Gomes E, Kazachkova N, Bettencourt C, Raposo M, Kay TT, MacLeod P, Vasconcelos J, Lima M. Gonzalez C, et al. Among authors: vasconcelos j. Genet Test Mol Biomarkers. 2012 Dec;16(12):1363-8. doi: 10.1089/gtmb.2011.0370. Genet Test Mol Biomarkers. 2012. PMID: 23153003 Free PMC article.

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