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Ewout JN Groen
Ewout JN Groen
UMC Utrecht
在 umcutrecht.nl 的电子邮件经过验证
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引用次数
引用次数
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Protein aggregation in amyotrophic lateral sclerosis
AM Blokhuis, EJN Groen, M Koppers, LH van den Berg, RJ Pasterkamp
Acta neuropathologica 125 (6), 777-794, 2013
6602013
Genome-wide association study identifies 19p13. 3 (UNC13A) and 9p21. 2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
MA van Es, JH Veldink, CGJ Saris, HM Blauw, PWJ van Vught, A Birve, ...
Nature genetics 41 (10), 1083-1087, 2009
4442009
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ...
Nature genetics 53 (12), 1636-1648, 2021
3092021
Advances in therapy for spinal muscular atrophy: promises and challenges
EJN Groen, K Talbot, TH Gillingwater
Nature Reviews Neurology 14 (4), 214-224, 2018
2292018
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
MA van Es, HJ Schelhaas, PWJ van Vught, N Ticozzi, PM Andersen, ...
Annals of neurology 70 (6), 964-973, 2011
2142011
riboWaltz: optimization of ribosome P-site positioning in ribosome profiling data
F Lauria, T Tebaldi, P Bernabo, EJN Groen, TH Gillingwater, G Viero
PLOS Computational Biology 14 (8), e1006169, 2018
1532018
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN
EJN Groen, K Fumoto, AM Blokhuis, JY Engelen-Lee, Y Zhou, ...
Human molecular genetics 22 (18), 3690-3704, 2013
1532013
VCP mutations in familial and sporadic amyotrophic lateral sclerosis
M Koppers, MM van Blitterswijk, L Vlam, PA Rowicka, PWJ van Vught, ...
Neurobiology of aging 33 (4), 837. e7-837. e13, 2012
1502012
Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways
AM Blokhuis, M Koppers, EJN Groen, DMA van Den Heuvel, ...
Acta neuropathologica 132, 175, 2016
1482016
UBA1: at the crossroads of ubiquitin homeostasis and neurodegeneration
EJN Groen, TH Gillingwater
Trends in molecular medicine 21 (10), 622-632, 2015
1482015
In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology
P Bernabo, T Tebaldi, EJN Groen, FM Lane, E Perenthaler, F Mattedi, ...
Cell Reports 21 (4), 953-965, 2017
1142017
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34. 1
ALSGEN Consortium
Neurobiology of aging 34 (1), 357. e7-357. e19, 2013
992013
Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy
RA Powis, E Karyka, P Boyd, J Côme, RA Jones, Y Zheng, E Szunyogova, ...
JCI Insight 1 (11), 2016
932016
FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands
EJN Groen, MA van Es, PWJ van Vught, WGM Spliet, J van Engelen-Lee, ...
Archives of neurology 67 (2), 224-230, 2010
932010
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy
PJ Boyd, WY Tu, HK Shorrock, EJN Groen, RN Carter, RA Powis, ...
PLoS genetics 13 (4), e1006744, 2017
872017
A large genome scan for rare CNVs in amyotrophic lateral sclerosis
HM Blauw, A Al-Chalabi, PM Andersen, PWJ van Vught, FP Diekstra, ...
Human molecular genetics 19 (20), 4091-4099, 2010
762010
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy
HK Shorrock, TH Gillingwater, EJN Groen
Drugs 78 (3), 293-305, 2018
752018
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS
FP Diekstra, CGJ Saris, W van Rheenen, L Franke, RC Jansen, ...
PloS one 7 (4), e35333, 2012
672012
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
EJN Groen, E Perenthaler, NL Courtney, CY Jordan, HK Shorrock, ...
Human molecular genetics 27 (16), 2851-2862, 2018
662018
The intracellular redox protein MICAL-1 regulates the development of hippocampal mossy fibre connections
EY Van Battum, RAF Gunput, S Lemstra, EJN Groen, KL Yu, Y Adolfs, ...
Nature communications 5, 2014
662014
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