Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients C Sellier, F Rau, Y Liu, F Tassone, RK Hukema, R Gattoni, A Schneider, ... The EMBO journal 29 (7), 1248-1261, 2010 | 378 | 2010 |
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions J Simón-Sánchez, EGP Dopper, PE Cohn-Hokke, RK Hukema, ... Brain 135 (3), 723-735, 2012 | 331 | 2012 |
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 |
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice MR Hunsaker, CM Greco, MA Spath, APT Smits, CS Navarro, F Tassone, ... Acta neuropathologica 122, 467-479, 2011 | 117 | 2011 |
Antagonistic sensory cues generate gustatory plasticity in Caenorhabditis elegans RK Hukema, S Rademakers, MPJ Dekkers, J Burghoorn, G Jansen The EMBO journal 25 (2), 312-322, 2006 | 117 | 2006 |
CGG‐repeat length and neuropathological and molecular correlates in a mouse model for fragile X‐associated tremor/ataxia syndrome JR Brouwer, K Huizer, LA Severijnen, RK Hukema, RF Berman, ... Journal of neurochemistry 107 (6), 1671-1682, 2008 | 111 | 2008 |
Gustatory plasticity in C. elegans involves integration of negative cues and NaCl taste mediated by serotonin, dopamine, and glutamate RK Hukema, S Rademakers, G Jansen Learning & Memory 15 (11), 829-836, 2008 | 100 | 2008 |
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 |
The 3′ UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse S Zongaro, R Hukema, S D'Antoni, L Davidovic, P Barbry, MV Catania, ... Human molecular genetics 22 (10), 1971-1982, 2013 | 91 | 2013 |
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 |
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) SL Sherman, EC Curnow, CA Easley, P Jin, RK Hukema, MI Tejada, ... Journal of neurodevelopmental disorders 6, 1-12, 2014 | 70 | 2014 |
An integrative study of protein-RNA condensates identifies scaffolding RNAs and reveals players in fragile X-associated tremor/ataxia syndrome F Cid-Samper, M Gelabert-Baldrich, B Lang, N Lorenzo-Gotor, RD Ponti, ... Cell reports 25 (12), 3422-3434. e7, 2018 | 64 | 2018 |
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology TH Wong, WZ Chiu, GJ Breedveld, KW Li, AJMH Verkerk, D Hondius, ... Brain 137 (5), 1361-1373, 2014 | 61 | 2014 |
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 |
FBXO7 Immunoreactivity in α-Synuclein—Containing Inclusions in Parkinson Disease and Multiple System Atrophy T Zhao, LA Severijnen, M Weiden, PP Zheng, BA Oostra, RK Hukema, ... Journal of Neuropathology & Experimental Neurology 72 (6), 482-488, 2013 | 52 | 2013 |
RETRACTED ARTICLE: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD RK Hukema, FW Riemslagh, S Melhem, HC van der Linde, ... Acta neuropathologica communications 2, 1-4, 2014 | 43 | 2014 |
Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function? M Boivin, R Willemsen, RK Hukema, C Sellier European journal of medical genetics 61 (11), 674-679, 2018 | 34 | 2018 |
Short antisense oligonucleotides alleviate the pleiotropic toxicity of RNA harboring expanded CGG repeats M Derbis, E Kul, D Niewiadomska, M Sekrecki, A Piasecka, K Taylor, ... Nature communications 12 (1), 1265, 2021 | 33 | 2021 |