| 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 | 112 | 2017 |
| 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 | 84 | 2017 |
| 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 | 72 | 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 | 63 | 2018 |
| Survival of motor neurone protein is required for normal postnatal development of the spleen AK Thomson, E Somers, RA Powis, HK Shorrock, K Murphy, KJ Swoboda, ... Journal of anatomy 230 (2), 337-346, 2017 | 61 | 2017 |
| SCA 8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF 3F F Ayhan, BA Perez, HK Shorrock, T Zu, M Banez‐Coronel, T Reid, ... The EMBO journal 37 (19), e99023, 2018 | 52 | 2018 |
| Interventions targeting glucocorticoid-Krüppel-like factor 15-branched-chain amino acid signaling improve disease phenotypes in spinal muscular atrophy mice LM Walter, MO Deguise, KE Meijboom, CA Betts, N Ahlskog, ... EBioMedicine 31, 226-242, 2018 | 47 | 2018 |
| Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy G Hunter, RA Powis, RA Jones, EJN Groen, HK Shorrock, FM Lane, ... Human molecular genetics 25 (13), 2853-2861, 2016 | 41 | 2016 |
| Molecular mechanisms underlying sensory-motor circuit dysfunction in SMA HK Shorrock, TH Gillingwater, EJN Groen Frontiers in molecular neuroscience 12, 59, 2019 | 29 | 2019 |
| UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy HK Shorrock, D van der Hoorn, PJ Boyd, M Llavero Hurtado, DJ Lamont, ... Brain 141 (10), 2878-2894, 2018 | 29 | 2018 |
| A nonmyeloablative chimeric mouse model accurately defines microglia and macrophage contribution in glioma K Yu, AS Youshani, FL Wilkinson, C O'Leary, P Cook, L Laaniste, A Liao, ... Neuropathology and applied neurobiology 45 (2), 119-140, 2019 | 24 | 2019 |
| Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy GK Maxwell, E Szunyogova, HK Shorrock, TH Gillingwater, SH Parson Journal of anatomy 232 (6), 965-978, 2018 | 24 | 2018 |
| Multi-study proteomic and bioinformatic identification of molecular overlap between amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) D Šoltić, M Bowerman, J Stock, HK Shorrock, TH Gillingwater, HR Fuller Brain sciences 8 (12), 212, 2018 | 17 | 2018 |
| CCG• CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity BA Perez, HK Shorrock, M Banez‐Coronel, T Zu, LEL Romano, ... EMBO molecular medicine 13 (11), e14095, 2021 | 16 | 2021 |
| Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy D Šoltić, HK Shorrock, H Allardyce, EL Wilson, I Holt, SA Synowsky, ... Human molecular genetics 28 (21), 3515-3527, 2019 | 16 | 2019 |
| Disease-associated inosine misincorporation into RNA hinders translation JH Schroader, LA Jones, R Meng, HK Shorrock, JI Richardson, ... Nucleic acids research 50 (16), 9306-9318, 2022 | 8 | 2022 |
| Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening JR Jenquin, AP O’Brien, K Poukalov, Y Lu, JA Frias, HK Shorrock, ... Iscience 25 (5), 2022 | 6 | 2022 |
| Individual transcriptomic response to strength training for myotonic dystrophy type 1 patients EE Davey, C Légaré, L Planco, S Shaughnessy, CD Lennon, MP Roussel, ... JCI insight, 2023 | 4* | 2023 |
| Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect H Zhou, Y Hong, M Scoto, A Thomson, E Pead, T MacGillivray, ... The Journal of Clinical Investigation 132 (21), 2022 | 3 | 2022 |
| AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/-spinal muscular atrophy mice Human Molecular Genetics S Brown, D Šoltić, SA Synowsky, SL Shirran, E Chilcott, HK Shorrock, ... Human Molecular Genetics, 2023 | 1 | 2023 |
