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Renate K Hukema
Renate K Hukema
Verified email at hr.nl
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Year
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
3782010
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
3312012
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
2152017
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
1172011
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
1172006
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
1112008
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
1002008
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
992014
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
982016
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
912013
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
712014
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
702014
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
642018
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
612014
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
602014
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
592015
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
522013
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
432014
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
342018
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
332021
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