Works matching AU Verbeek, Dineke S.

Results: 34

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 441, doi. 10.1038/sj.ejhg.5201167

By:

Verbeek, Dineke S.;
Piersma, Systse J.;
Hennekam, Eric FAM;
Ippel, Elly F.;
Pearson, Peter L.;
Sinke, Richard J.

Publication type:

Article

Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23.

Published in:

Brain Pathology, 2021, v. 31, n. 2, p. 239, doi. 10.1111/bpa.12905

By:

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

Publication type:

Article

Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders.

Published in:

Brain Sciences (2076-3425), 2023, v. 13, n. 12, p. 1625, doi. 10.3390/brainsci13121625

By:

Garofalo, Martinica;
Vansenne, Fleur;
Sival, Deborah A.;
Verbeek, Dineke S.

Publication type:

Article

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

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0116599

By:

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.

Publication type:

Article

Spinocerebellar Ataxia Type 23: A Genetic Update.

Published in:

Cerebellum, 2009, v. 8, n. 2, p. 104, doi. 10.1007/s12311-008-0085-1

By:

Verbeek, Dineke S.

Publication type:

Article

Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2728, doi. 10.1093/hmg/ddw130

By:

Smeets, Cleo J. L. M.;
Zmorzyńska, Justyna;
Melo, Manuel N.;
Stargardt, Anita;
Dooley, Colette;
Bakalkin, Georgy;
McLaughlin, Jay;
Sinke, Richard J.;
Marrink, Siewert-Jan;
Reits, Eric;
Verbeek, Dineke S.

Publication type:

Article

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 4, p. 987, doi. 10.1093/hmg/ddu513

By:

Groen, Justus L.;
Andrade, Arturo;
Ritz, Katja;
Jalalzadeh, Hamid;
Haagmans, Martin;
Bradley, Ted E. J.;
Jongejan, Aldo;
Verbeek, Dineke S.;
Nürnberg, Peter;
Denome, Sylvia;
Hennekam, Raoul C. M.;
Lipscombe, Diane;
Baas, Frank;
Tijssen, Marina A. J.

Publication type:

Article

WDR45, one gene associated with multiple neurodevelopmental disorders.

Published in:

Autophagy, 2021, v. 17, n. 12, p. 3908, doi. 10.1080/15548627.2021.1899669

By:

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

Publication type:

Article

Reply: PLD3 and spinocerebellar ataxia.

Published in:

2018

By:

Ma, Kai Yu;
Verbeek, Dineke S

Publication type:

Letter

SCA23 and prodynorphin: is it time for gene retraction?

Published in:

2016

By:

Pedroso, José Luiz;
Vale, Thiago Cardoso;
Freua, Fernando;
Barsottini, Orlando G. P.;
Kok, Fernando;
Smeets, Cleo J. L. M.;
Verbeek, Dineke S.

Publication type:

Letter

Reply: SCA23 and prodynorphin: is it time for gene retraction?

Published in:

2016

By:

Smeets, Cleo J L M;
Verbeek, Dineke S

Publication type:

Letter

Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23.

Published in:

2015

By:

Smeets, Cleo J. L. M.;
Jezierska, Justyna;
Hiroyuki Watanabe;
Duarri, Anna;
Fokkens, Michiel R.;
Meijer, Michel;
Qin Zhou;
Yakovleva, Tania;
Boddeke, Erik;
den Dunnen, Wilfred;
van Deursen, Jan;
Bakalkin, Georgy;
Kampinga, Harm H.;
van de Sluis, Bart;
Verbeek, Dineke S.

Publication type:

journal article

SCA19 and SCA22: evidence for one locus with a worldwide distribution.

Published in:

Brain: A Journal of Neurology, 2004, v. 127, n. 1, p. 6

By:

Helenius J. Schelhaas;
Dineke S. Verbeek;
Bart P. C. Van de Warrenburg;
Richard J. Sinke

Publication type:

Article

CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.

Published in:

Annals of Neurology, 2021, v. 89, n. 1, p. 66, doi. 10.1002/ana.25919

By:

Leotti, Vanessa B.;
Vries, Jeroen J.;
Oliveira, Camila M.;
Mattos, Eduardo P.;
Te Meerman, Gerard J.;
Brunt, Ewout R.;
Kampinga, Harm H.;
Jardim, Laura B.;
Verbeek, Dineke S.

Publication type:

Article

Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 88, doi. 10.1007/s00439-005-1278-z

By:

Verbeek, Dineke S.;
van de Warrenburg, Bart P.C.;
Hennekam, F.A.M.;
Dooijes, Dennis;
Ippel, P. F.;
Verschuuren-Bemelmans, Corien C.;
Kremer, H. P. H.;
Sinke, Richard J.

Publication type:

Article

Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 388, doi. 10.1007/s00439-002-0782-7

By:

Verbeek, Dineke S.;
Schelhaas, Jurgen H.;
Ippel, Elly F.;
Beemer, Frits A.;
Pearson, Peter L.;
Sinke, Richard J.

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.782685

By:

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

Publication type:

Article

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

Published in:

Annals of Neurology, 2012, v. 72, n. 6, p. 870, doi. 10.1002/ana.23700

By:

Duarri, Anna;
Jezierska, Justyna;
Fokkens, Michiel;
Meijer, Michel;
Schelhaas, Helenius J.;
den Dunnen, Wilfred F. A.;
van Dijk, Freerk;
Verschuuren-Bemelmans, Corien;
Hageman, Gerard;
van de Vlies, Pieter;
Küsters, Benno;
van de Warrenburg, Bart P.;
Kremer, Berry;
Wijmenga, Cisca;
Sinke, Richard J.;
Swertz, Morris A.;
Kampinga, Harm H.;
Boddeke, Erik;
Verbeek, Dineke S.

Publication type:

Article

Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain.

Published in:

Cerebral Cortex, 2018, v. 28, n. 9, p. 3129, doi. 10.1093/cercor/bhx181

By:

Bazov, Igor;
Sarkisyan, Daniil;
Kononenko, Olga;
Watanabe, Hiroyuki;
Taqi, Mumtaz Malik;
Stålhandske, Lada;
Verbeek, Dineke S;
Mulder, Jan;
Rajkowska, Grazyna;
Sheedy, Donna

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2017, v. 7/8, p. 1, doi. 10.3389/fneur.2016.00241

By:

Verbeek, Dineke S.;
Gasser, Thomas

Publication type:

Article

SCA14 mutation V138E leads to partly unfolded PKCγ associated with an exposed C-terminus, altered kinetics, phosphorylation and enhanced insolubilization.

Published in:

Journal of Neurochemistry, 2014, v. 128, n. 5, p. 741, doi. 10.1111/jnc.12491

By:

Jezierska, Justyna;
Goedhart, Joachim;
Kampinga, Harm H.;
Reits, Eric A.;
Verbeek, Dineke S.

Publication type:

Article

Reply to: "Childhood Onset Chorea Caused by a Recurrent De Novo DRD2 Variant".

Published in:

Movement Disorders, 2021, v. 36, n. 6, p. 1473, doi. 10.1002/mds.28635

By:

Weijden, Marlous C.M.;
Rodriguez‐Contreras, Dayana;
Neve, Kim A.;
Verbeek, Dineke S.;
Tijssen, Marina A.J.

Publication type:

Article

Reply to: "Childhood Onset Chorea Caused by a Recurrent De Novo DRD2 Variant".

Published in:

2021

By:

Weijden, Marlous C.M.;
Rodriguez‐Contreras, Dayana;
Neve, Kim A.;
Verbeek, Dineke S.;
Tijssen, Marina A.J.;
van der Weijden, Marlous C M;
Rodriguez-Contreras, Dayana

Publication type:

Letter

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

Published in:

Movement Disorders, 2021, v. 36, n. 3, p. 729, doi. 10.1002/mds.28385

By:

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.

Publication type:

Article

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

Published in:

NPJ Parkinson's Disease, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41531-021-00258-8

By:

Ma, Kai Yu;
Fokkens, Michiel R.;
van Laar, Teus;
Verbeek, Dineke S.

Publication type:

Article

Comprehensive analysis of genetic risk loci uncovers novel candidate genes and pathways in the comorbidity between depression and Alzheimer's disease.

Published in:

Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02968-y

By:

Hofstra, Bente M.;
Kas, Martien J. H.;
Verbeek, Dineke S.

Publication type:

Article

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

Published in:

Translational Neurodegeneration, 2021, v. 10, n. 1, p. 1, doi. 10.1186/s40035-021-00243-4

By:

Ma, Kai Yu;
Fokkens, Michiel R.;
Reggiori, Fulvio;
Mari, Muriel;
Verbeek, Dineke S.

Publication type:

Article

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

Published in:

Molecular Brain, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13041-021-00736-3

By:

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.

Publication type:

Article

Cortical pencil lining on SWI MRI in NBIA and healthy aging.

Published in:

2019

By:

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

Publication type:

journal article

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

Published in:

Diagnostics (2075-4418), 2020, v. 10, n. 12, p. 997, doi. 10.3390/diagnostics10120997

By:

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.

Publication type:

Article

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 11205, doi. 10.3390/ijms252011205

By:

Ghorbani, Fatemeh;
de Boer, Eddy N.;
Fokkens, Michiel R.;
de Boer-Bergsma, Jelkje;
Verschuuren-Bemelmans, Corien C.;
Wierenga, Elles;
Kasaei, Hamidreza;
Noordermeer, Daan;
Verbeek, Dineke S.;
Westers, Helga;
van Diemen, Cleo C.

Publication type:

Article

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

Published in:

Journal of Neurology, 2022, v. 269, n. 11, p. 6086, doi. 10.1007/s00415-022-11275-9

By:

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.

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0200-3

By:

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

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 51, doi. 10.1186/s12881-015-0200-3

By:

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

Publication type:

Article