Michael G. Thor

Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Irina Zaharieva, Michael G. Thor, Emily C. Oates et al. · Brain · 2015 · 126 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

Roope Männikkö, Leonie C.H. Wong, David J. Tester et al. · The Lancet · 2018 · 80 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Spider toxin inhibits gating pore currents underlying periodic paralysis

Roope Männikkö, Michael G. Thor, Antonina A. Berkut et al. · Proceedings of the National Academy of Sciences · 2018 · 28 citations · Full text

Natural Sciences, Biophysics, Physiology +17

Congenital myopathy with “corona” fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A

Hernán Gonorazky, Christian R. Marshall, Maryam Almurshed et al. · Neuromuscular Disorders · 2017 · 27 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

Michael G. Thor, Vinojini Vivekanandam, Marisol Sampedro Castañeda et al. · Scientific Reports · 2019 · 17 citations · Full text

Natural Sciences, Molecular Genetics, Physiology +17