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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.
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
Koens LH, Kuiper A, Coenen MA, Elting JW, de Vries JJ, Engelen M, Koelman JH, van Spronsen FJ, Spikman JM, de Koning TJ, Tijssen MA. Koens LH, et al. Among authors: de vries jj, de koning tj. Orphanet J Rare Dis. 2016 Sep 1;11(1):121. doi: 10.1186/s13023-016-0502-3. Orphanet J Rare Dis. 2016. PMID: 27581084 Free PMC article.
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.
Polet SS, Anderson DG, Koens LH, van Egmond ME, Drost G, Brusse E, Willemsen MA, Sival DA, Brouwer OF, Kremer HP, de Vries JJ, Tijssen MA, de Koning TJ. Polet SS, et al. Among authors: de vries jj, de koning tj. Parkinsonism Relat Disord. 2020 Mar;72:44-48. doi: 10.1016/j.parkreldis.2020.02.005. Epub 2020 Feb 18. Parkinsonism Relat Disord. 2020. PMID: 32105965 Free article.
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.
187 results