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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: pereira de almeida l. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051
Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies.
Lopes SM, Faro R, Lopes MM, Onofre I, Mendonça N, Ribeiro J, Januário C, Nobre RJ, Pereira de Almeida L. Lopes SM, et al. Among authors: pereira de almeida l. J Mol Diagn. 2020 Jun;22(6):782-793. doi: 10.1016/j.jmoldx.2020.03.003. Epub 2020 Mar 20. J Mol Diagn. 2020. PMID: 32205289 Free article.
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.
Wilke C, Haas E, Reetz K, Faber J, Garcia-Moreno H, Santana MM, van de Warrenburg B, Hengel H, Lima M, Filla A, Durr A, Melegh B, Masciullo M, Infante J, Giunti P, Neumann M, de Vries J, Pereira de Almeida L, Rakowicz M, Jacobi H, Schüle R, Kaeser SA, Kuhle J, Klockgether T, Schöls L; SCA3 neurofilament study group; Barro C, Hübener-Schmid J, Synofzik M. Wilke C, et al. Among authors: de vries j, pereira de almeida l. EMBO Mol Med. 2020 Jul 7;12(7):e11803. doi: 10.15252/emmm.201911803. Epub 2020 Jun 8. EMBO Mol Med. 2020. PMID: 32510847 Free PMC article.
Simple and Fast SEC-Based Protocol to Isolate Human Plasma-Derived Extracellular Vesicles for Transcriptional Research.
Gaspar LS, Santana MM, Henriques C, Pinto MM, Ribeiro-Rodrigues TM, Girão H, Nobre RJ, Pereira de Almeida L. Gaspar LS, et al. Among authors: pereira de almeida l. Mol Ther Methods Clin Dev. 2020 Jul 15;18:723-737. doi: 10.1016/j.omtm.2020.07.012. eCollection 2020 Sep 11. Mol Ther Methods Clin Dev. 2020. PMID: 32913880 Free PMC article.
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood.
Hübener-Schmid J, Kuhlbrodt K, Peladan J, Faber J, Santana MM, Hengel H, Jacobi H, Reetz K, Garcia-Moreno H, Raposo M, van Gaalen J, Infante J, Steiner KM, de Vries J, Verbeek MM, Giunti P, Pereira de Almeida L, Lima M, van de Warrenburg B, Schöls L, Klockgether T, Synofzik M; European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group; Riess O. Hübener-Schmid J, et al. Among authors: de vries j, pereira de almeida l. Mov Disord. 2021 Nov;36(11):2675-2681. doi: 10.1002/mds.28749. Epub 2021 Aug 16. Mov Disord. 2021. PMID: 34397117
The autophagy-enhancing drug carbamazepine improves neuropathology and motor impairment in mouse models of Machado-Joseph disease.
Vasconcelos-Ferreira A, Carmo-Silva S, Codêsso JM, Silva P, Martinez ARM, França MC Jr, Nóbrega C, Pereira de Almeida L. Vasconcelos-Ferreira A, et al. Among authors: pereira de almeida l. Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12763. doi: 10.1111/nan.12763. Epub 2021 Oct 13. Neuropathol Appl Neurobiol. 2022. PMID: 34432315
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.
Hengel H, Martus P, Faber J, Garcia-Moreno H, Solanky N, Giunti P, Klockgether T, Reetz K, van de Warrenburg BP, Pereira de Almeida L, Santana MM, Januário C, Silva P, Thieme A, Infante J, de Vries J, Lima M, Ferreira AF, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M, Schöls L. Hengel H, et al. Among authors: de vries j, pereira de almeida l. Mov Disord. 2022 Feb;37(2):405-410. doi: 10.1002/mds.28844. Epub 2021 Oct 29. Mov Disord. 2022. PMID: 34713931
77 results