| 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 | 117 | 2016 |
| 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 | 91 | 2018 |
| Spider toxin inhibits gating pore currents underlying periodic paralysis R Männikkö, ZO Shenkarev, MG Thor, AA Berkut, MY Myshkin, ... Proceedings of the National Academy of Sciences 115 (17), 4495-4500, 2018 | 31 | 2018 |
| Congenital myopathy with “corona” fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A HD Gonorazky, CR Marshall, M Al-Murshed, LN Hazrati, MG Thor, ... Neuromuscular Disorders 27 (6), 574-580, 2017 | 23 | 2017 |
| Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation MG Thor, V Vivekanandam, M Sampedro-Castañeda, SV Tan, ... Scientific reports 9 (1), 17560, 2019 | 16 | 2019 |
| Recessive loss-of-function SCN4A mutations associated with a novel phenotype of congenital myopathy I Zaharieva, M Thor, E Oates, C Karnebeek, E Kamsteeg, L Hartley, ... Neuromuscular Disorders 25, S275-S276, 2015 | 8 | 2015 |
| Recessive SCN4A loss of function in congenital myasthenic syndrome, congenital myopathy or fetal akinesia deformation sequence MG Thor, MG Hanna, F Muntoni, R Männikkö Neuromuscular Disorders 1 (27), S34-S35, 2017 | 1 | 2017 |
| Contrasting roles of Ih and the persistent sodium current at subthreshold voltages during naturalistic stimuli MG Thor, G Morris Journal of Neurophysiology 116 (5), 2001-2003, 2016 | 1 | 2016 |
| Novel pathomechanisms and disease associations of the voltage-gated sodium channel NaV1. 4 MG Thor UCL (University College London), 2019 | | 2019 |
| Loss of function mutations in SCN4A cause severe fetal hypokinesia or congenital myopathy I Zaharieva, MG Thor, E Oates, C Van Karnebeek, G Hendson, E Blom, ... NEUROMUSCULAR DISORDERS 26, S33-S33, 2016 | | 2016 |
| Articles in PresS. J Neurophysiol (February 24, 2016). doi: 10.1152/jn. 00031.2016 MG Thor, G Morris | | 2016 |
| P44 Mutations of the same S4 arginine residue in NaV1. 4 can result in either myotonia or hypokalemic periodic paralysis MG Thor, S Durran, E Matthews, DR Rayan, MG Sweeney, MG Hanna, ... Neuromuscular Disorders 24, S18-S19, 2014 | | 2014 |
