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Page 1
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Ghorbani F, de Boer-Bergsma J, Verschuuren-Bemelmans CC, Pennings M, de Boer EN, Kremer B, Vanhoutte EK, de Vries JJ, van de Berg R, Kamsteeg EJ, van Diemen CC, Westers H, van de Warrenburg BP, Verbeek DS. Ghorbani F, et al. Among authors: de boer bergsma j, de boer en, de vries jj. J Neurol. 2022 Nov;269(11):6086-6093. doi: 10.1007/s00415-022-11275-9. Epub 2022 Jul 21. J Neurol. 2022. PMID: 35864213 Free PMC article.
Reliability of phenotypic early-onset ataxia assessment: a pilot study.
Lawerman TF, Brandsma R, van Geffen JT, Lunsing RJ, Burger H, Tijssen MA, de Vries JJ, de Koning TJ, Sival DA. Lawerman TF, et al. Among authors: de vries jj, de koning tj. Dev Med Child Neurol. 2016 Jan;58(1):70-6. doi: 10.1111/dmcn.12804. Epub 2015 May 21. Dev Med Child Neurol. 2016. PMID: 25995073 Free 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. 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. Mov Disord. 2022 Feb;37(2):405-410. doi: 10.1002/mds.28844. Epub 2021 Oct 29. Mov Disord. 2022. PMID: 34713931
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: de vries jj. 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. 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.
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: de vries jj. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051
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. medRxiv [Preprint]. 2023 Apr 25:2023.04.21.23287817. doi: 10.1101/2023.04.21.23287817. medRxiv. 2023. PMID: 37163081 Free PMC article. Updated. Preprint.
182 results