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Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824. Epub 2023 Dec 5.
Ann Neurol. 2024.
PMID: 37962377
Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).
Melo AR, Ramos A, Kazachkova N, Raposo M, Bettencourt BF, Rendeiro AR, Kay T, Vasconcelos J, Bruges-Armas J, Lima M.
Melo AR, et al.
Mol Diagn Ther. 2016 Dec;20(6):617-622. doi: 10.1007/s40291-016-0235-y.
Mol Diagn Ther. 2016.
PMID: 27647319
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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: melo arv.
Neurobiol Dis. 2022 Jan;162:105578. doi: 10.1016/j.nbd.2021.105578. Epub 2021 Dec 3.
Neurobiol Dis. 2022.
PMID: 34871736
Free article.
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Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3.
Melo ARV, Raposo M, Ventura M, Martins S, Pavão S, Alonso I, Bettencourt C, Lima M.
Melo ARV, et al.
Cerebellum. 2023 Feb;22(1):37-45. doi: 10.1007/s12311-021-01358-0. Epub 2022 Jan 16.
Cerebellum. 2023.
PMID: 35034258
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A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Santana MM, Gaspar LS, Pinto MM, Silva P, Adão D, Pereira D, Ribeiro JA, Cunha I, Huebener-Schmid J, Raposo M, Ferreira AF, Faber J, Kuhs S, Garcia-Moreno H, Reetz K, Thieme A, Infante J, van de Warrenburg BPC, Giunti P, Riess O, Schöls L, Lima M, Klockgether T, Januário C, de Almeida LP; European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative Study Group.
Santana MM, et al.
Neuropathol Appl Neurobiol. 2023 Apr;49(2):e12892. doi: 10.1111/nan.12892.
Neuropathol Appl Neurobiol. 2023.
PMID: 36798010
Free PMC article.
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The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research.
Lima M, Raposo M, Ferreira A, Melo ARV, Pavão S, Medeiros F, Teves L, Gonzalez C, Lemos J, Pires P, Lopes P, Valverde D, Gonzalez J, Kay T, Vasconcelos J.
Lima M, et al. Among authors: melo arv.
Biomedicines. 2023 Jan 18;11(2):247. doi: 10.3390/biomedicines11020247.
Biomedicines. 2023.
PMID: 36830784
Free PMC article.
Review.
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Stage-dependent biomarker changes in spinocerebellar ataxia type 3.
Faber J, Berger M, Carlo W, Hübener-Schmid J, Schaprian T, Santana MM, Grobe-Einsler M, Onder D, Koyak B, Giunti P, Garcia-Moreno H, Gonzalez-Robles C, Lima M, Raposo M, Melo ARV, de Almeida LP, Silva P, Pinto MM, van de Warrenburg BP, van Gaalen J, de Vries J, Jeroen, Oz G, Joers JM, Synofzik M, Schöls L, Riess O, Infante J, Manrique L, Timmann D, Thieme A, Jacobi H, Reetz K, Dogan I, Onyike C, Povazan M, Schmahmann J, Ratai EM, Schmid M, Klockgether T.
Faber J, et al. Among authors: melo arv.
medRxiv [Preprint]. 2023 Apr 25:2023.04.21.23287817. doi: 10.1101/2023.04.21.23287817.
medRxiv. 2023.
PMID: 37163081
Free PMC article.
Updated.
Preprint.
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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.
Neurobiol Dis. 2024 Apr;193:106456. doi: 10.1016/j.nbd.2024.106456. Epub 2024 Feb 27.
Neurobiol Dis. 2024.
PMID: 38423193
Free article.
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