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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.
Assessment of speech in early-onset ataxia: a pilot study.
Kuiper MJ, Brandsma R, Lawerman TF, Lunsing RJ, Keegstra AL, Burger H, De Koning TJ, Tijssen MAJ, Sival DA. Kuiper MJ, et al. Among authors: de koning tj. Dev Med Child Neurol. 2014 Dec;56(12):1202-1206. doi: 10.1111/dmcn.12517. Epub 2014 Jun 18. Dev Med Child Neurol. 2014. PMID: 24942085 Free article.
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.
van Egmond ME, Kuiper A, Eggink H, Sinke RJ, Brouwer OF, Verschuuren-Bemelmans CC, Sival DA, Tijssen MA, de Koning TJ. van Egmond ME, et al. Among authors: de koning tj. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81. doi: 10.1136/jnnp-2014-309106. Epub 2014 Nov 13. J Neurol Neurosurg Psychiatry. 2015. PMID: 25395479 Review.
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group. van der Velde KJ, et al. Among authors: de haan m, de koning tj. Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20. Hum Mutat. 2015. PMID: 25871441 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.
177 results