Raposo M - Search Results

1

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: raposo m. medRxiv [Preprint]. 2023 Apr 25:2023.04.21.23287817. doi: 10.1101/2023.04.21.23287817. medRxiv. 2023. Update in: Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824 PMID: 37163081 Free PMC article. Updated. Preprint.

2

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: raposo m. BMC Neurol. 2011 Oct 24;11:131. doi: 10.1186/1471-2377-11-131. BMC Neurol. 2011. PMID: 22023810 Free PMC article.

3

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. Among authors: raposo m. 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

4

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: raposo m. 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.

5

Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).

Raposo M, Vasconcelos J, Bettencourt C, Kay T, Coutinho P, Lima M. Raposo M, et al. BMC Neurol. 2014 Jan 22;14:17. doi: 10.1186/1471-2377-14-17. BMC Neurol. 2014. PMID: 24450306 Free PMC article.

6

Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?

Raposo M, Ramos A, Bettencourt C, Lima M. Raposo M, et al. Brain. 2015 Dec;138(Pt 12):e398. doi: 10.1093/brain/awv206. Epub 2015 Jul 14. Brain. 2015. PMID: 26173860 No abstract available.

7

Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients.

Raposo M, Bettencourt C, Ramos A, Kazachkova N, Vasconcelos J, Kay T, Bruges-Armas J, Lima M. Raposo M, et al. Neuromolecular Med. 2017 Mar;19(1):41-45. doi: 10.1007/s12017-016-8416-8. Epub 2016 May 31. Neuromolecular Med. 2017. PMID: 27246313

8

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. Among authors: raposo m. Mol Diagn Ther. 2016 Dec;20(6):617-622. doi: 10.1007/s40291-016-0235-y. Mol Diagn Ther. 2016. PMID: 27647319

9

Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease.

Kazachkova N, Raposo M, Ramos A, Montiel R, Lima M. Kazachkova N, et al. Among authors: raposo m. Cerebellum. 2017 Dec;16(5-6):957-963. doi: 10.1007/s12311-017-0875-4. Cerebellum. 2017. PMID: 28699106

10

Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD).

Lima M, Raposo M. Lima M, et al. Among authors: raposo m. Adv Exp Med Biol. 2018;1049:309-319. doi: 10.1007/978-3-319-71779-1_16. Adv Exp Med Biol. 2018. PMID: 29427111 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

240 results

Search Page

Filters