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Page 1
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: santana mm. Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824. Epub 2023 Dec 5. Ann Neurol. 2024. PMID: 37962377
Trehalose alleviates the phenotype of Machado-Joseph disease mouse models.
Santana MM, Paixão S, Cunha-Santos J, Silva TP, Trevino-Garcia A, Gaspar LS, Nóbrega C, Nobre RJ, Cavadas C, Greif H, Pereira de Almeida L. Santana MM, et al. J Transl Med. 2020 Apr 9;18(1):161. doi: 10.1186/s12967-020-02302-2. J Transl Med. 2020. PMID: 32272938 Free PMC 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: santana mm. 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.
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: santana mm. Mov Disord. 2021 Nov;36(11):2675-2681. doi: 10.1002/mds.28749. Epub 2021 Aug 16. Mov Disord. 2021. PMID: 34397117
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: santana mm. Mov Disord. 2022 Feb;37(2):405-410. doi: 10.1002/mds.28844. Epub 2021 Oct 29. Mov Disord. 2022. PMID: 34713931
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.
Garcia-Moreno H, Prudencio M, Thomas-Black G, Solanky N, Jansen-West KR, Hanna Al-Shaikh R, Heslegrave A, Zetterberg H, Santana MM, Pereira de Almeida L, Vasconcelos-Ferreira A, Januário C, Infante J, Faber J, Klockgether T, Reetz K, Raposo M, Ferreira AF, Lima M, Schöls L, Synofzik M, Hübener-Schmid J, Puschmann A, Gorcenco S, Wszolek ZK, Petrucelli L, Giunti P. Garcia-Moreno H, et al. Among authors: santana mm. Eur J Neurol. 2022 Aug;29(8):2439-2452. doi: 10.1111/ene.15373. Epub 2022 May 26. Eur J Neurol. 2022. PMID: 35478426 Free PMC article.
Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.
Maas RPPWM, Teerenstra S, Lima M, Pires P, Pereira de Almeida L, van Gaalen J, Timmann D, Infante J, Onyike C, Bushara K, Jacobi H, Reetz K, Santana MM, Afonso Ribeiro J, Hübener-Schmid J, de Vries JJ, Synofzik M, Schöls L, Garcia-Moreno H, Giunti P, Faber J, Klockgether T, van de Warrenburg BPC. Maas RPPWM, et al. Among authors: santana mm. Mov Disord. 2022 Sep;37(9):1850-1860. doi: 10.1002/mds.29135. Epub 2022 Jul 8. Mov Disord. 2022. PMID: 35808813 Free PMC article.
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: santana mm. 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.
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.
49 results