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Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS. Duarri A, et al. Among authors: boddeke e. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS. Duarri A, et al. Among authors: boddeke e. PLoS One. 2015 Mar 10;10(3):e0116599. doi: 10.1371/journal.pone.0116599. eCollection 2015. PLoS One. 2015. PMID: 25756792 Free PMC article.
DNAJB6, a Key Factor in Neuronal Sensitivity to Amyloidogenesis.
Thiruvalluvan A, de Mattos EP, Brunsting JF, Bakels R, Serlidaki D, Barazzuol L, Conforti P, Fatima A, Koyuncu S, Cattaneo E, Vilchez D, Bergink S, Boddeke EHWG, Copray S, Kampinga HH. Thiruvalluvan A, et al. Among authors: boddeke ehwg. Mol Cell. 2020 Apr 16;78(2):346-358.e9. doi: 10.1016/j.molcel.2020.02.022. Epub 2020 Apr 7. Mol Cell. 2020. PMID: 32268123 Free article.
Increased White Matter Inflammation in Aging- and Alzheimer's Disease Brain.
Raj D, Yin Z, Breur M, Doorduin J, Holtman IR, Olah M, Mantingh-Otter IJ, Van Dam D, De Deyn PP, den Dunnen W, Eggen BJL, Amor S, Boddeke E. Raj D, et al. Among authors: boddeke e. Front Mol Neurosci. 2017 Jun 30;10:206. doi: 10.3389/fnmol.2017.00206. eCollection 2017. Front Mol Neurosci. 2017. PMID: 28713239 Free PMC article.
96 results