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 | 132 | 2017 |
HDAC4-myogenin axis as an important marker of HD-related skeletal muscle atrophy M Mielcarek, M Toczek, CJLM Smeets, SA Franklin, MK Bondulich, ... PLoS genetics 11 (3), e1005021, 2015 | 71 | 2015 |
Climbing fibers in spinocerebellar ataxia: A mechanism for the loss of motor control C Smeets, DS Verbeek Neurobiology of disease 88, 96-106, 2016 | 56 | 2016 |
Cerebellar ataxia and functional genomics: identifying the routes to cerebellar neurodegeneration C Smeets, DS Verbeek Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1842 (10 …, 2014 | 53 | 2014 |
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 | 42 | 2015 |
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4. 3 channel function and gating in a dominant manner A Duarri, MCA Lin, MR Fokkens, M Meijer, CJLM Smeets, EAR Nibbeling, ... Cellular and molecular life sciences 72 (17), 3387-3399, 2015 | 38 | 2015 |
Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23 CJLM Smeets, J Zmorzyńska, MN Melo, A Stargardt, C Dooley, ... Human molecular genetics 25 (13), 2728-2737, 2016 | 13 | 2016 |
Reply: SCA23 and prodynorphin: is it time for gene retraction? CJLM Smeets, DS Verbeek Brain 139 (8), e43-e43, 2016 | 2 | 2016 |
Genetic screening of glutamatergic components in cases suspected to suffer from cerebellar ataxia reveals a link with intellectual disability C Smeets, EAR Nibbeling, MR Fokkens, D Brandenburg-Weening, F Yi, ... The genetics of spinocerebellar ataxia and dystonia, 127, 0 | | |