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Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Raposo M, Hübener-Schmid J, Tagett R, 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, Riess O; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Costa MDC, Lima M. Raposo M, et al. Among authors: vasconcelos j. Neurobiol Dis. 2024 Apr;193:106456. doi: 10.1016/j.nbd.2024.106456. Epub 2024 Feb 27. Neurobiol Dis. 2024. PMID: 38423193 Free article.
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: vasconcelos j. Neurobiol Dis. 2022 Jan;162:105578. doi: 10.1016/j.nbd.2021.105578. Epub 2021 Dec 3. Neurobiol Dis. 2022. PMID: 34871736 Free article.
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
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
Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.
Raposo M, Bettencourt C, Maciel P, Gao F, Ramos A, Kazachkova N, Vasconcelos J, Kay T, Rodrigues AJ, Bettencourt B, Bruges-Armas J, Geschwind D, Coppola G, Lima M. Raposo M, et al. Among authors: vasconcelos j. Mov Disord. 2015 Jun;30(7):968-75. doi: 10.1002/mds.26238. Epub 2015 Apr 25. Mov Disord. 2015. PMID: 25914309
554 results