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Dineke Verbeek
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Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19
A Duarri, J Jezierska, M Fokkens, M Meijer, HJ Schelhaas, ...
Annals of neurology 72 (6), 870-880, 2012
1532012
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23
G Bakalkin, H Watanabe, J Jezierska, C Depoorter, ...
The American Journal of Human Genetics 87 (5), 593-603, 2010
1462010
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
BPC Van De Warrenburg, DS Verbeek, SJ Piersma, FAM Hennekam, ...
Neurology 61 (12), 1760-1765, 2003
1192003
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia
EAR Nibbeling, A Duarri, CC Verschuuren-Bemelmans, MR Fokkens, ...
Brain 140 (11), 2860-2878, 2017
1152017
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
DS Verbeek, BP Van De Warrenburg, P Wesseling, PL Pearson, ...
Brain 127 (11), 2551-2557, 2004
1102004
Nuclear‐Cytosolic Transport of COMMD1 Regulates NF‐κB and HIF‐1 Activity
PAJ Muller, B De Sluis, AJ Groot, D Verbeek, WIM Vonk, GN Maine, ...
Traffic 10 (5), 514-527, 2009
1062009
PKCγ mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling
DS Verbeek, J Goedhart, L Bruinsma, RJ Sinke, EA Reits
Journal of cell science 121 (14), 2339-2349, 2008
1052008
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome
JL Groen, A Andrade, K Ritz, H Jalalzadeh, M Haagmans, TEJ Bradley, ...
Human molecular genetics 24 (4), 987-993, 2015
982015
Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
DS Verbeek, JH Schelhaas, EF Ippel, FA Beemer, PL Pearson, RJ Sinke
Human genetics 111, 388-393, 2002
972002
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting
DS Verbeek, MA Knight, GG Harmison, KH Fischbeck, BW Howell
Brain 128 (2), 436-442, 2005
922005
Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?
M Huang, DS Verbeek
Neuroscience letters 688, 49-57, 2019
602019
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
K Smets, A Duarri, T Deconinck, B Ceulemans, BP van de Warrenburg, ...
BMC medical genetics 16, 1-7, 2015
592015
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis
EAR Nibbeling, CCS Delnooz, TJ de Koning, RJ Sinke, HA Jinnah, ...
Neuroscience & Biobehavioral Reviews 75, 22-39, 2017
532017
Climbing fibers in spinocerebellar ataxia: a mechanism for the loss of motor control
CJLM Smeets, DS Verbeek
Neurobiology of disease 88, 96-106, 2016
532016
Aberrant compartment formation by HSPB2 mislocalizes lamin A and compromises nuclear integrity and function
FF Morelli, DS Verbeek, J Bertacchini, J Vinet, L Mediani, S Marmiroli, ...
Cell reports 20 (9), 2100-2115, 2017
512017
Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration
CJLM Smeets, DS Verbeek
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1842 (10 …, 2014
502014
SCA19 and SCA22: evidence for one locus with a worldwide distribution
HJ Schelhaas, DS Verbeek, BPC Van de Warrenburg, RJ Sinke
Brain 127 (1), e6-e6, 2004
472004
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
DS Verbeek, BPC Warrenburg, FAM Hennekam, D Dooijes, PF Ippel, ...
Human genetics 117, 88-91, 2005
442005
Genetics of the dominant ataxias
DS Verbeek, BPC van de Warrenburg
Seminars in neurology 31 (05), 461-469, 2011
422011
Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23
CJLM Smeets, J Jezierska, H Watanabe, A Duarri, MR Fokkens, M Meijer, ...
Brain 138 (9), 2537-2552, 2015
402015
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