Spinocerebellar Ataxia Type 23: A Genetic Update

por Verbeek, Dineke S.
Publicado 2008

Unmet Needs in Dystonia: Genetics and Molecular Biology—How Many Dystonias?

por Verbeek, Dineke S., Gasser, Thomas
Publicado 2017

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

Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23

por Smeets, Cleo J.L.M., Ma, Kai Yu, Fisher, Simon E., Verbeek, Dineke S.
Publicado 2020

WDR45, one gene associated with multiple neurodevelopmental disorders

por Cong, Yingying, So, Vincent, Tijssen, Marina A. J., Verbeek, Dineke S., Reggiori, Fulvio, Mauthe, Mario
Publicado 2021

Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?

por Tonholo Silva, Thiago Y., Rosa, Augusto B.R., Quaio, Caio R., Verbeek, Dineke, Pedroso, José Luiz, Barsottini, Orlando
Publicado 2021

Cortical pencil lining on SWI MRI in NBIA and healthy aging

por van der Weijden, Marlous C. M., van Laar, Peter Jan, Lambrechts, Roald A., Verbeek, Dineke S., Tijssen, Marina A. J.
Publicado 2019

Conformation Effects of CpG Methylation on Single-Stranded DNA Oligonucleotides: Analysis of the Opioid Peptide Dynorphin-Coding Sequences

por Taqi, Malik Mumtaz, Wärmländer, Sebastian K. T. S., Yamskova, Olga, Madani, Fatemeh, Bazov, Igor, Luo, Jinghui, Zubarev, Roman, Verbeek, Dineke, Gräslund, Astrid, Bakalkin, Georgy
Publicado 2012

Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

por Sival, Deborah A., Garofalo, Martinica, Brandsma, Rick, Bokkers, Tom A., van den Berg, Marloes, de Koning, Tom J., Tijssen, Marina A. J., Verbeek, Dineke S.
Publicado 2020

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

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

por Smets, Katrien, Duarri, Anna, Deconinck, Tine, Ceulemans, Berten, van de Warrenburg, Bart P., Züchner, Stephan, Gonzalez, Michael Anthony, Schüle, Rebecca, Synofzik, Matthis, Van der Aa, Nathalie, De Jonghe, Peter, Verbeek, Dineke S., Baets, Jonathan
Publicado 2015

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

por Ghorbani, Fatemeh, de Boer, Eddy N., Benjamins-Stok, Marloes, Verschuuren-Bemelmans, Corien C., Knapper, Jurjen, de Boer-Bergsma, Jelkje, de Vries, Jeroen J., Sikkema-Raddatz, Birgit, Verbeek, Dineke S., Westers, Helga, van Diemen, Cleo C.
Publicado 2023

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

Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function

por Morelli, Federica F., Verbeek, Dineke S., Bertacchini, Jessika, Vinet, Jonathan, Mediani, Laura, Marmiroli, Sandra, Cenacchi, Giovanna, Nasi, Milena, De Biasi, Sara, Brunsting, Jeanette F., Lammerding, Jan, Pegoraro, Elena, Angelini, Corrado, Tupler, Rossella, Alberti, Simon, Carra, Serena
Publicado 2017

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

por Huang, Miaozhen, Nibbeling, Esther A. R., Lagrand, Tjerk J., Souza, Ivana A., Groen, Justus L., Gandini, Maria A., Zhang, Fang-Xiong, Koelman, Johannes H. T. M., Adir, Noam, Sinke, Richard J., Zamponi, Gerald W., Tijssen, Marina A. J., Verbeek, Dineke S.
Publicado 2021

Reduced expression of C/EBPβ-LIP extends health and lifespan in mice

por Müller, Christine, Zidek, Laura M, Ackermann, Tobias, de Jong, Tristan, Liu, Peng, Kliche, Verena, Zaini, Mohamad Amr, Kortman, Gertrud, Harkema, Liesbeth, Verbeek, Dineke S, Tuckermann, Jan P, von Maltzahn, Julia, de Bruin, Alain, Guryev, Victor, Wang, Zhao-Qi, Calkhoven, Cornelis F
Publicado 2018

A Gain‐of‐Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype

por van der Weijden, Marlous C.M., Rodriguez‐Contreras, Dayana, Delnooz, Cathérine C.S., Robinson, Brooks G., Condon, Alec F., Kielhold, Michelle L., Stormezand, Gilles N., Ma, Kai Yu, Dufke, Claudia, Williams, John T., Neve, Kim A., Tijssen, Marina A.J., Verbeek, Dineke S.
Publicado 2020

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

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia

por Ghorbani, Fatemeh, de Boer-Bergsma, Jelkje, Verschuuren-Bemelmans, Corien C., Pennings, Maartje, de Boer, Eddy N., Kremer, Berry, Vanhoutte, Els K., de Vries, Jeroen J., van de Berg, Raymond, Kamsteeg, Erik-Jan, van Diemen, Cleo C., Westers, Helga, van de Warrenburg, Bart P., Verbeek, Dineke S.
Publicado 2022