M. Thor

发表

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

D. Kullmann, E. Behr, S. Sisodiya, 2018, The Lancet.

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

C. Krarup, F. Muntoni, P. Ruben, 2015, Brain : a journal of neurology.

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

D. Kullmann, S. Schorge, M. Hanna, 2019, Scientific Reports.

Novel pathomechanisms and disease associations of the voltage-gated sodium channel NaV1.4

M. Thor, 2019 .

Spider toxin inhibits gating pore currents underlying periodic paralysis

D. Kullmann, S. Schorge, M. Kirpichnikov, 2018, Proceedings of the National Academy of Sciences.

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

C. Marshall, L. Hazrati, P. Ray, 2017, Neuromuscular Disorders.

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

D. Kullmann, E. Behr, S. Sisodiya, 2018, The Lancet.

Edinburgh Research Explorer Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome

D. Kullmann, D. Tester, M. Sweeney, 2018 .

Contrasting roles of Ih and the persistent sodium current at subthreshold voltages during naturalistic stimuli.

M. Thor, G. Morris, 2016, Journal of neurophysiology.

Barriers to accessing multiple sclerosis disease-modifying therapies in the Middle East and North Africa region: A regional survey-based study.

F. Boumédiène, M. Thor, B. Yamout, 2023, Multiple sclerosis and related disorders.