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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.
Serotonergic perturbations in dystonia disorders-a systematic review.
Smit M, Bartels AL, van Faassen M, Kuiper A, Niezen-Koning KE, Kema IP, Dierckx RA, de Koning TJ, Tijssen MA. Smit M, et al. Among authors: de koning tj. Neurosci Biobehav Rev. 2016 Jun;65:264-75. doi: 10.1016/j.neubiorev.2016.03.015. Epub 2016 Apr 9. Neurosci Biobehav Rev. 2016. PMID: 27073048 Review.
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.
Nibbeling EA, Delnooz CC, de Koning TJ, Sinke RJ, Jinnah HA, Tijssen MA, Verbeek DS. Nibbeling EA, et al. Among authors: de koning tj. Neurosci Biobehav Rev. 2017 Apr;75:22-39. doi: 10.1016/j.neubiorev.2017.01.033. Epub 2017 Jan 28. Neurosci Biobehav Rev. 2017. PMID: 28143763 Free PMC article. Review.
Progressive myoclonus ataxia: Time for a new definition?
van der Veen S, Zutt R, Elting JWJ, Becker CE, de Koning TJ, Tijssen MAJ. van der Veen S, et al. Among authors: de koning tj. Mov Disord. 2018 Aug;33(8):1281-1286. doi: 10.1002/mds.27412. Epub 2018 Aug 25. Mov Disord. 2018. PMID: 30145808 Free PMC article.
A novel diagnostic approach to patients with myoclonus.
Zutt R, van Egmond ME, Elting JW, van Laar PJ, Brouwer OF, Sival DA, Kremer HP, de Koning TJ, Tijssen MA. Zutt R, et al. Among authors: de koning tj. Nat Rev Neurol. 2015 Dec;11(12):687-97. doi: 10.1038/nrneurol.2015.198. Epub 2015 Nov 10. Nat Rev Neurol. 2015. PMID: 26553594 Review.
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.
175 results