| Corticosteroids for the treatment of Duchenne muscular dystrophy E Matthews, R Brassington, T Kuntzer, F Jichi, AY Manzur Cochrane Database of Systematic Reviews, 2016 | 456 | 2016 |
| Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 420 | 2020 |
| The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment E Matthews, D Fialho, SV Tan, SL Venance, SC Cannon, D Sternberg, ... Brain 133 (1), 9-22, 2010 | 252 | 2010 |
| Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis E Matthews, R Labrum, MG Sweeney, R Sud, A Haworth, PF Chinnery, ... Neurology 72 (18), 1544-1547, 2009 | 233 | 2009 |
| Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial JM Statland, BN Bundy, Y Wang, DR Rayan, JR Trivedi, VA Sansone, ... Jama 308 (13), 1357-1365, 2012 | 194 | 2012 |
| Whole-genome sequencing of a sporadic primary immunodeficiency cohort JED Thaventhiran, H Lango Allen, OS Burren, W Rae, D Greene, ... Nature 583 (7814), 90-95, 2020 | 184 | 2020 |
| Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis CJ Rhodes, K Batai, M Bleda, M Haimel, L Southgate, M Germain, ... The Lancet Respiratory Medicine 7 (3), 227-238, 2019 | 156 | 2019 |
| Prevalence study of genetically defined skeletal muscle channelopathies in England A Horga, DL Raja Rayan, E Matthews, R Sud, D Fialho, SCM Durran, ... Neurology 80 (16), 1472-1475, 2013 | 145 | 2013 |
| Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype E Matthews, S Portaro, Q Ke, R Sud, A Haworth, MB Davis, RC Griggs, ... Neurology 77 (22), 1960-1964, 2011 | 120 | 2011 |
| Refined exercise testing can aid DNA‐based diagnosis in muscle channelopathies SV Tan, E Matthews, M Barber, JA Burge, S Rajakulendran, D Fialho, ... Annals of neurology 69 (2), 328-340, 2011 | 117 | 2011 |
| Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy IT Zaharieva, MG Thor, EC Oates, C Van Karnebeek, G Hendson, E Blom, ... Brain 139 (3), 674-691, 2016 | 115 | 2016 |
| Non-dystrophic myotonia: prospective study of objective and patient reported outcomes JR Trivedi, B Bundy, J Statland, M Salajegheh, DR Rayan, SL Venance, ... Brain 136 (7), 2189-2200, 2013 | 111 | 2013 |
| Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy V Schartner, NB Romero, S Donkervoort, S Treves, P Munot, TM Pierson, ... Acta neuropathologica 133, 517-533, 2017 | 108 | 2017 |
| 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 | 106 | 2010 |
| Effect of mexiletine on muscle stiffness in patients with nondystrophic myotonia evaluated using aggregated N-of-1 trials BC Stunnenberg, J Raaphorst, HM Groenewoud, JM Statland, RC Griggs, ... Jama 320 (22), 2344-2353, 2018 | 99 | 2018 |
| Dysfunction of NaV1. 4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study R Männikkö, L Wong, DJ Tester, MG Thor, R Sud, DM Kullmann, ... The Lancet 391 (10129), 1483-1492, 2018 | 93 | 2018 |
| Guidelines on clinical presentation and management of nondystrophic myotonias BC Stunnenberg, S LoRusso, WD Arnold, RJ Barohn, SC Cannon, ... Muscle & nerve 62 (4), 430-444, 2020 | 74 | 2020 |
| Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis? E Matthews, MG Hanna The Journal of Physiology 588 (11), 1879-1886, 2010 | 73 | 2010 |
| Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data JHR Farmery, ML Smith, AG Lynch Scientific reports 8 (1), 1300, 2018 | 68 | 2018 |
| Infantile onset myofibrillar myopathy due to recessive CRYAB mutations KML Forrest, S Al-Sarraj, C Sewry, S Buk, SV Tan, M Pitt, A Durward, ... Neuromuscular Disorders 21 (1), 37-40, 2011 | 68 | 2011 |
Stephanie SchorgeProfessor of Neuroscience, UCL在 ucl.ac.uk 的电子邮件经过验证
