Bettencourt C - Search Results

1

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.

Siebert M, Donis KC, Socal M, Rieder CR, Emmel VE, Vairo F, Michelin-Tirelli K, França M Jr, D'Abreu AC, Bettencourt C, Lima M, Lopes Cendes I, Saraiva-Pereira ML, Jardim LB. Siebert M, et al. Among authors: bettencourt c. Parkinsonism Relat Disord. 2012 Feb;18(2):185-90. doi: 10.1016/j.parkreldis.2011.09.024. Epub 2011 Oct 15. Parkinsonism Relat Disord. 2012. PMID: 22001711

2

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

Bettencourt C, Lima M. Bettencourt C, et al. Orphanet J Rare Dis. 2011 Jun 2;6:35. doi: 10.1186/1750-1172-6-35. Orphanet J Rare Dis. 2011. PMID: 21635785 Free PMC article. Review.

3

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. Arch Neurol. 2011 Dec;68(12):1580-3. doi: 10.1001/archneurol.2011.636. Arch Neurol. 2011. PMID: 22159055

4

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. Cerebellum. 2012 Dec;11(4):1045-50. doi: 10.1007/s12311-012-0373-7. Cerebellum. 2012. PMID: 22422287

5

"Mimicking" capacity of spinocerebellar ataxia type 3: the details matter.

Bettencourt C, Lima M. Bettencourt C, et al. J Neurol Sci. 2013 Mar 15;326(1-2):120-1; author reply 122. doi: 10.1016/j.jns.2013.01.022. Epub 2013 Feb 13. J Neurol Sci. 2013. PMID: 23415547 No abstract available.

6

Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing.

Raposo M, Bettencourt C, Melo ARV, Ferreira AF, Alonso I, Silva P, Vasconcelos J, Kay T, Saraiva-Pereira ML, Costa MD, Vilasboas-Campos D, Bettencourt BF, Bruges-Armas J, Houlden H, Heutink P, Jardim LB, Sequeiros J, Maciel P, Lima M. Raposo M, et al. Among authors: bettencourt bf, bettencourt c. Neurobiol Dis. 2022 Jan;162:105578. doi: 10.1016/j.nbd.2021.105578. Epub 2021 Dec 3. Neurobiol Dis. 2022. PMID: 34871736 Free article.

7

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

Raposo M, Ramos A, Santos C, Kazachkova N, Teixeira B, Bettencourt C, Lima M. Raposo M, et al. Among authors: bettencourt c. Mol Neurobiol. 2019 Jan;56(1):119-124. doi: 10.1007/s12035-018-1069-x. Epub 2018 Apr 21. Mol Neurobiol. 2019. PMID: 29679261

8

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

Bettencourt C, Santos C, Kay T, Vasconcelos J, Lima M. Bettencourt C, et al. 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

9

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

Bettencourt C, Fialho RN, Santos C, Montiel R, Bruges-Armas J, Maciel P, Lima M. Bettencourt C, et al. J Hum Genet. 2008;53(4):333-339. doi: 10.1007/s10038-008-0261-7. Epub 2008 Feb 20. J Hum Genet. 2008. PMID: 18286225

10

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

Bettencourt C, Raposo M, Ros R, Montiel R, Bruges-Armas J, Lima M. Bettencourt C, et al. J Mol Neurosci. 2013 Mar;49(3):539-43. doi: 10.1007/s12031-012-9832-3. Epub 2012 Jun 16. J Mol Neurosci. 2013. PMID: 22706685

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