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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. 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: koens lh. 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.
11 results