| 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 | 157 | 2012 |
| 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 | 147 | 2010 |
| 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 | 118 | 2017 |
| 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 | 118 | 2003 |
| 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 | 111 | 2004 |
| 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 | 107 | 2009 |
| 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 | 107 | 2008 |
| 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 | 102 | 2015 |
| 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 | 97 | 2002 |
| 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 | 93 | 2005 |
| Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? M Huang, DS Verbeek Neuroscience letters 688, 49-57, 2019 | 66 | 2019 |
| 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 | 61 | 2015 |
| Climbing fibers in spinocerebellar ataxia: a mechanism for the loss of motor control CJLM Smeets, DS Verbeek Neurobiology of disease 88, 96-106, 2016 | 56 | 2016 |
| 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 | 55 | 2017 |
| 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 | 52 | 2014 |
| 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 | 51 | 2017 |
| 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 | 46 | 2004 |
| 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 | 45 | 2005 |
| Genetics of the dominant ataxias DS Verbeek, BPC van de Warrenburg Seminars in neurology 31 (05), 461-469, 2011 | 43 | 2011 |
| 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 | 40 | 2015 |
richard sinkeProfessor of Genome Analysis, dept. Genetics (MGE), University Medical Center Groningen在 ziggo.nl 的电子邮件经过验证
