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The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Hengel H, Martus P, Faber J, Giunit P, Garcia-Moreno H, Solanky N, Klockgether T, Reetz K, van de Warrenburg BP, Santana MM, Silva P, Cunha I, de Almeida LP, Timmann D, Infante J, de Vries J, Lima M, Pires P, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M; European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group; Schöls L. Hengel H, et al. Among authors: de vries j, de almeida lp. J Neurol. 2023 Feb;270(2):944-952. doi: 10.1007/s00415-022-11441-z. Epub 2022 Nov 2. J Neurol. 2023. PMID: 36324033 Free PMC article.
Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease.
Miranda CO, Nobre RJ, Paiva VH, Duarte JV, Castelhano J, Petrella LI, Sereno J, Santana M, Afonso S, Januário C, Castelo-Branco M, de Almeida LP. Miranda CO, et al. Among authors: de almeida lp. Acta Neuropathol Commun. 2022 Mar 19;10(1):37. doi: 10.1186/s40478-022-01329-4. Acta Neuropathol Commun. 2022. PMID: 35305685 Free PMC article.
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. Among authors: de almeida lp. Neuropathol Appl Neurobiol. 2023 Apr;49(2):e12892. doi: 10.1111/nan.12892. Neuropathol Appl Neurobiol. 2023. PMID: 36798010 Free PMC article.
Extracellular communication between brain cells through functional transfer of Cre mRNA.
Rufino-Ramos D, Leandro K, Perdigão PRL, O'Brien K, Pinto MM, Santana MM, van Solinge TS, Mahjoum S, Breakefield XO, Breyne K, de Almeida LP. Rufino-Ramos D, et al. Among authors: de almeida lp. bioRxiv [Preprint]. 2023 Jan 31:2023.01.29.525937. doi: 10.1101/2023.01.29.525937. bioRxiv. 2023. Update in: Mol Ther. 2023 Jul 5;31(7):2220-2239. doi: 10.1016/j.ymthe.2023.05.012. PMID: 36811091 Free PMC article. Updated. Preprint.
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Faber J, Berger M, Wilke C, Hubener-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, Oz G, Joers JM, Synofzik M, Schols 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: de almeida lp. Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824. Epub 2023 Dec 5. Ann Neurol. 2024. PMID: 37962377
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.
Elter TL, Sturm D, Santana MM, Schaprian T, Raposo M, Melo ARV, Lima M, Koyak B, Oender D, Grobe-Einsler M, Lopes S, Silva P, de Almeida LP, Giunti P, Garcia-Moreno H, Nethisinhe S, de Vries J, van de Warrenburg BP, van Gaalen J, Synofzik M, Schöls L, Reetz K, Erdlenbruch F, Jacobi H, Infante J, Riess O, Klockgether T; ESMI study group; Faber J, Hübener-Schmid J. Elter TL, et al. Among authors: de almeida lp. J Neurol. 2024 Dec 12;272(1):54. doi: 10.1007/s00415-024-12829-9. J Neurol. 2024. PMID: 39666145 Free PMC article.
84 results