| RYR1 mutations are a common cause of congenital myopathies with central nuclei JM Wilmshurst, S Lillis, H Zhou, K Pillay, H Henderson, W Kress, ... Annals of neurology 68 (5), 717-726, 2010 | 290 | 2010 |
| Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy SM Hammond, G Hazell, F Shabanpoor, AF Saleh, M Bowerman, ... Proceedings of the National Academy of Sciences 113 (39), 10962-10967, 2016 | 204 | 2016 |
| Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies H Zhou, H Jungbluth, CA Sewry, L Feng, E Bertini, K Bushby, V Straub, ... Brain 130 (8), 2024-2036, 2007 | 198 | 2007 |
| Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies A Klein, S Lillis, I Munteanu, M Scoto, H Zhou, R Quinlivan, V Straub, ... Human mutation 33 (6), 981-988, 2012 | 182 | 2012 |
| Oxidative stress in SEPN1‐related myopathy: From pathophysiology to treatment S Arbogast, M Beuvin, B Fraysse, H Zhou, F Muntoni, A Ferreiro Annals of Neurology: Official Journal of the American Neurological …, 2009 | 180 | 2009 |
| Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene H Jungbluth, H Zhou, L Hartley, B Halliger-Keller, S Messina, C Longman, ... Neurology 65 (12), 1930-1935, 2005 | 164 | 2005 |
| A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice H Zhou, N Janghra, C Mitrpant, RL Dickinson, K Anthony, L Price, ... Human gene therapy 24 (3), 331-342, 2013 | 134 | 2013 |
| Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies H Zhou, M Brockington, H Jungbluth, D Monk, P Stanier, CA Sewry, ... The American Journal of Human Genetics 79 (5), 859-868, 2006 | 134 | 2006 |
| Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene H Jungbluth, H Zhou, CA Sewry, S Robb, S Treves, M Bitoun, ... Neuromuscular Disorders 17 (4), 338-345, 2007 | 129 | 2007 |
| King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene JJ Dowling, S Lillis, K Amburgey, H Zhou, S Al-Sarraj, SJA Buk, E Wraige, ... Neuromuscular disorders 21 (6), 420-427, 2011 | 128 | 2011 |
| 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 |
| Characterization of recessive RYR1 mutations in core myopathies H Zhou, N Yamaguchi, L Xu, Y Wang, C Sewry, H Jungbluth, F Zorzato, ... Human molecular genetics 15 (18), 2791-2803, 2006 | 115 | 2006 |
| Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene H Zhou, S Lillis, RE Loy, F Ghassemi, MR Rose, F Norwood, K Mills, ... Neuromuscular Disorders 20 (3), 166-173, 2010 | 112 | 2010 |
| Antisense oligonucleotide-based therapy for neuromuscular disease V Sardone, H Zhou, F Muntoni, A Ferlini, MS Falzarano Molecules 22 (4), 563, 2017 | 109 | 2017 |
| Vascular D efects and S pinal C ord H ypoxia in S pinal M uscular A trophy E Somers, RD Lees, K Hoban, JN Sleigh, H Zhou, F Muntoni, K Talbot, ... Annals of neurology 79 (2), 217-230, 2016 | 94 | 2016 |
| Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy C Mitrpant, P Porensky, H Zhou, L Price, F Muntoni, S Fletcher, SD Wilton, ... PloS one 8 (4), e62114, 2013 | 91 | 2013 |
| Survival Motor Neuron (SMN) protein is required for normal mouse liver development E Szunyogova, H Zhou, GK Maxwell, RA Powis, F Muntoni, ... Scientific reports 6 (1), 34635, 2016 | 88 | 2016 |
| Altered levels of microRNA-9,-206, and-132 in spinal muscular atrophy and their response to antisense oligonucleotide therapy F Catapano, I Zaharieva, M Scoto, E Marrosu, J Morgan, F Muntoni, ... Molecular therapy Nucleic acids 5, 2016 | 78 | 2016 |
| Deletion of δ-opioid receptor in mice alters skin differentiation and delays wound healing M Bigliardi-Qi, C Gaveriaux-Ruff, H Zhou, C Hell, P Bady, T Rufli, B Kieffer, ... Differentiation 74 (4), 174-185, 2006 | 77 | 2006 |
| Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy H Zhou, J Meng, A Malerba, F Catapano, P Sintusek, S Jarmin, L Feng, ... Journal of Cachexia, Sarcopenia and Muscle 11 (3), 768-782, 2020 | 70 | 2020 |