A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis AL Nishimura, M Mitne-Neto, HCA Silva, A Richieri-Costa, S Middleton, ... The American Journal of Human Genetics 75 (5), 822-831, 2004 | 1217 | 2004 |
Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene TGA Mack nature neuroscience 4 (12), 1199-1206, 2001 | 697* | 2001 |
Total protein analysis as a reliable loading control for quantitative fluorescent Western blotting SL Eaton, SL Roche, M Llavero Hurtado, KJ Oldknow, C Farquharson, ... PloS one 8 (8), e72457, 2013 | 442 | 2013 |
Selective vulnerability of motor neurons and dissociation of pre-and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy LM Murray, LH Comley, D Thomson, N Parkinson, K Talbot, ... Human molecular genetics 17 (7), 949-962, 2008 | 436 | 2008 |
Spinal muscular atrophy: going beyond the motor neuron G Hamilton, TH Gillingwater Trends in molecular medicine, 2013 | 409 | 2013 |
Emerging therapies and challenges in spinal muscular atrophy MA Farrar, SB Park, S Vucic, KA Carey, BJ Turner, TH Gillingwater, ... Annals of neurology 81 (3), 355-368, 2017 | 259 | 2017 |
Synaptic vulnerability in neurodegenerative disease TM Wishart, SH Parson, TH Gillingwater Journal of Neuropathology & Experimental Neurology 65 (8), 733-739, 2006 | 250 | 2006 |
Advances in therapy for spinal muscular atrophy: promises and challenges EJN Groen, K Talbot, TH Gillingwater Nature Reviews Neurology 14 (4), 214-224, 2018 | 237 | 2018 |
Cellular and molecular anatomy of the human neuromuscular junction RA Jones, C Harrison, SL Eaton, ML Hurtado, LC Graham, L Alkhammash, ... Cell reports 21 (9), 2348-2356, 2017 | 217 | 2017 |
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy TM Wishart, CA Mutsaers, M Riessland, MM Reimer, G Hunter, ... The Journal of clinical investigation 124 (4), 1821-1834, 2014 | 206 | 2014 |
The role of survival motor neuron protein (SMN) in protein homeostasis H Chaytow, YT Huang, TH Gillingwater, KME Faller Cellular and Molecular Life Sciences 75, 3877-3894, 2018 | 192 | 2018 |
Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the Huntington's disease mutation RR Ribchester, D Thomson, NI Wood, T Hinks, TH Gillingwater, ... European Journal of Neuroscience 20 (11), 3092-3114, 2004 | 192 | 2004 |
VAPB interacts with and modulates the activity of ATF6 C Gkogkas, S Middleton, AM Kremer, C Wardrope, M Hannah, ... Human molecular genetics 17 (11), 1517-1526, 2008 | 187 | 2008 |
WldS prevents axon degeneration through increased mitochondrial flux and enhanced mitochondrial Ca2+ buffering MA Avery, TM Rooney, JD Pandya, TM Wishart, TH Gillingwater, ... Current Biology 22 (7), 596-600, 2012 | 183 | 2012 |
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy D Baumer, S Lee, G Nicholson, JL Davies, NJ Parkinson, L Murray, ... PLoS genetics 5 (12), e1000773, 2009 | 164 | 2009 |
riboWaltz: optimization of ribosome P-site positioning in ribosome profiling data F Lauria, T Tebaldi, P Bernabò, EJN Groen, TH Gillingwater, G Viero PLoS computational biology 14 (8), e1006169, 2018 | 154 | 2018 |
Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy LM Murray, K Talbot, TH Gillingwater Neuropathology and applied neurobiology 36 (2), 133-156, 2010 | 153 | 2010 |
UBA1: at the crossroads of ubiquitin homeostasis and neurodegeneration EJN Groen, TH Gillingwater Trends in molecular medicine 21 (10), 622-632, 2015 | 149 | 2015 |
Transcriptional regulation of the AP-1 and Nrf2 target gene sulfiredoxin FX Soriano, P Baxter, LM Murray, MB Sporn, TH Gillingwater, ... Molecules and cells 27, 279-282, 2009 | 149 | 2009 |
The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy JN Sleigh, TH Gillingwater, K Talbot Disease models & mechanisms 4 (4), 457-467, 2011 | 148 | 2011 |