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Page 1
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: koyak b. J Neurol. 2024 Dec 12;272(1):54. doi: 10.1007/s00415-024-12829-9. J Neurol. 2024. PMID: 39666145 Free PMC article.
Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia.
Rezende TJR, Petit E, Park YW, Tezenas du Montcel S, Joers JM, DuBois JM, Moore Arnold H, Povazan M, Banan G, Valabregue R, Ehses P, Faber J, Coupé P, Onyike CU, Barker PB, Schmahmann JD, Ratai EM, Subramony SH, Mareci TH, Bushara KO, Paulson H, Klockgether T, Durr A, Ashizawa T, Lenglet C, Öz G; READISCA Consortium. Rezende TJR, et al. Mov Disord. 2024 Oct;39(10):1856-1867. doi: 10.1002/mds.29934. Epub 2024 Jul 26. Mov Disord. 2024. PMID: 39056163
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: koyak b. Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824. Epub 2023 Dec 5. Ann Neurol. 2024. PMID: 37962377
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: koyak b. 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.
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J; EUROSCA study group; ESMI study group; RISCA study group; CRC-SCA study group; SCA Registry study group; Klockgether T, Faber J. Uebachs M, et al. Cerebellum. 2024 Jun;23(3):887-895. doi: 10.1007/s12311-023-01546-0. Epub 2023 Mar 31. Cerebellum. 2024. PMID: 37002505 Free PMC article.