Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants

por Ma, Kai Yu, Fokkens, Michiel R., van Laar, Teus, Verbeek, Dineke S.
Publicado 2021

Parkinson’s disease–associated VPS35 mutant reduces mitochondrial membrane potential and impairs PINK1/Parkin-mediated mitophagy

por Ma, Kai Yu, Fokkens, Michiel R., Reggiori, Fulvio, Mari, Muriel, Verbeek, Dineke S.
Publicado 2021

Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

por Duarri, Anna, Lin, Meng-Chin A., Fokkens, Michiel R., Meijer, Michel, Smeets, Cleo J. L. M., Nibbeling, Esther A. R., Boddeke, Erik, Sinke, Richard J., Kampinga, Harm H., Papazian, Diane M., Verbeek, Dineke S.
Publicado 2015

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

por Duarri, Anna, Nibbeling, Esther A. R., Fokkens, Michiel R., Meijer, Michel, Boerrigter, Melissa, Verschuuren-Bemelmans, Corien C., Kremer, Berry P. H., van de Warrenburg, Bart P., Dooijes, Dennis, Boddeke, Erik, Sinke, Richard J., Verbeek, Dineke S.
Publicado 2015

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

por Ghorbani, Fatemeh, Alimohamed, Mohamed Z., Vilacha, Juliana F., Van Dijk, Krista K., De Boer-Bergsma, Jelkje, Fokkens, Michiel R., Lemmink, Henny, Sijmons, Rolf H., Sikkema-Raddatz, Birgit, Groves, Matthew R., Verschuuren-Bemelmans, Corien C., Verbeek, Dineke S., Van Diemen, Cleo C., Westers, Helga
Publicado 2022