| Translation of expanded CGG repeats into FMRpolyG is pathogenic and may contribute to fragile X tremor ataxia syndrome C Sellier, RAM Buijsen, F He, S Natla, L Jung, P Tropel, A Gaucherot, ... Neuron 93 (2), 331-347, 2017 | 215 | 2017 |
| Delivery of oligonucleotide‐based therapeutics: challenges and opportunities SM Hammond, A Aartsma‐Rus, S Alves, SE Borgos, RAM Buijsen, ... EMBO molecular medicine 13 (4), e13243, 2021 | 211 | 2021 |
| AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome J Levenga, S Hayashi, FMS de Vrij, SK Koekkoek, HC van der Linde, ... Neurobiology of disease 42 (3), 311-317, 2011 | 136 | 2011 |
| Genetics, mechanisms, and therapeutic progress in polyglutamine spinocerebellar ataxias RAM Buijsen, LJA Toonen, SL Gardiner, WMC van Roon-Mom Neurotherapeutics 16 (2), 263-286, 2019 | 125 | 2019 |
| Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice I Gantois, AS Pop, CEF de Esch, RAM Buijsen, T Pooters, ... Behavioural brain research 239, 72-79, 2013 | 104 | 2013 |
| FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome RAM Buijsen, C Sellier, LAWFM Severijnen, M Oulad-Abdelghani, ... Acta Neuropathologica Communications 2, 1-5, 2014 | 99 | 2014 |
| Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary … RAM Buijsen, JA Visser, P Kramer, E Severijnen, M Gearing, ... Human Reproduction 31 (1), 158-168, 2016 | 98 | 2016 |
| Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant AS Pop, J Levenga, CEF de Esch, RAM Buijsen, IM Nieuwenhuizen, T Li, ... Psychopharmacology 231, 1227-1235, 2014 | 93 | 2014 |
| The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice MF Vinueza Veloz, RAM Buijsen, R Willemsen, A Cupido, LWJ Bosman, ... Genes, Brain and Behavior 11 (3), 325-331, 2012 | 76 | 2012 |
| Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome RF Berman, RAM Buijsen, K Usdin, E Pintado, F Kooy, D Pretto, ... Journal of neurodevelopmental disorders 6, 1-16, 2014 | 71 | 2014 |
| Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice J Levenga, FMS de Vrij, RAM Buijsen, T Li, IM Nieuwenhuizen, A Pop, ... Neurobiology of learning and memory 95 (4), 467-472, 2011 | 63 | 2011 |
| Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo RK Hukema, RAM Buijsen, C Raske, LA Severijnen, ... Cell Cycle 13 (16), 2600-2608, 2014 | 60 | 2014 |
| Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS RK Hukema, RAM Buijsen, M Schonewille, C Raske, LAWFM Severijnen, ... Human molecular genetics 24 (17), 4948-4957, 2015 | 59 | 2015 |
| Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube Test CEF De Esch, WE van Den Berg, RAM Buijsen, IA Jaafar, ... Neurobiology of disease 75, 31-39, 2015 | 38 | 2015 |
| Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons J Levenga, RAM Buijsen, M Rifé, H Moine, DL Nelson, BA Oostra, ... Neurobiology of disease 35 (2), 241-250, 2009 | 31 | 2009 |
| Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced … RAM Buijsen, SL Gardiner, MJ Bouma, LM van der Graaf, MW Boogaard, ... Stem Cell Research 29, 125-128, 2018 | 20 | 2018 |
| Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset SL Gardiner, C Milanese, MW Boogaard, RAM Buijsen, M Hogenboom, ... Neurology: Genetics 4 (5), e275, 2018 | 18 | 2018 |
| Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of fragile X-associated tremor/ataxia syndrome H Castro, E Kul, RAM Buijsen, LAWFM Severijnen, R Willemsen, ... Human Molecular Genetics 26 (11), 2133-2145, 2017 | 18 | 2017 |
| Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model S Zeidler, AS Pop, IA Jaafar, H De Boer, RAM Buijsen, CEF de Esch, ... Brain and Behavior 8 (6), e00991, 2018 | 14 | 2018 |
| Human induced pluripotent stem cell-based modelling of spinocerebellar ataxias MP Hommersom, RAM Buijsen, WMC van Roon-Mom, ... Stem Cell Reviews and Reports 18 (2), 441-456, 2022 | 10 | 2022 |
