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 | 713 | 2013 |
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 | 464 | 2009 |
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 | 401 | 2021 |
Advances in therapy for spinal muscular atrophy: promises and challenges EJN Groen, K Talbot, TH Gillingwater Nature Reviews Neurology 14 (4), 214-224, 2018 | 252 | 2018 |
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 | 223 | 2011 |
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 | 174 | 2018 |
UBA1: at the crossroads of ubiquitin homeostasis and neurodegeneration EJN Groen, TH Gillingwater Trends in molecular medicine 21 (10), 622-632, 2015 | 166 | 2015 |
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 | 160 | 2013 |
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 | 159 | 2016 |
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 | 155 | 2012 |
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 | 127 | 2017 |
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 | 103 | 2016 |
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 | 103 | 2013 |
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 | 98 | 2010 |
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 | 94 | 2017 |
SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy F Lauria, P Bernabò, T Tebaldi, EJN Groen, E Perenthaler, F Maniscalco, ... Nature cell biology 22 (10), 1239-1251, 2020 | 86 | 2020 |
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 | 79 | 2018 |
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 | 78 | 2010 |
Active ribosome profiling with RiboLace M Clamer, T Tebaldi, F Lauria, P Bernabo, RF Gómez-Biagi, ... Cell Reports 25 (4), 1097-1108. e5, 2018 | 76 | 2018 |
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 | 76 | 2018 |