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Spider toxin inhibits gating pore currents underlying periodic paralysis.
Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):4495-4500. doi: 10.1073/pnas.1720185115. Epub 2018 Apr 10.
Proc Natl Acad Sci U S A. 2018.
PMID: 29636418
Free PMC article.
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
Thor MG, Vivekanandam V, Sampedro-Castañeda M, Tan SV, Suetterlin K, Sud R, Durran S, Schorge S, Kullmann DM, Hanna MG, Matthews E, Männikkö R.
Thor MG, et al.
Sci Rep. 2019 Nov 26;9(1):17560. doi: 10.1038/s41598-019-54041-0.
Sci Rep. 2019.
PMID: 31772215
Free PMC article.
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Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.
Gonorazky HD, Marshall CR, Al-Murshed M, Hazrati LN, Thor MG, Hanna MG, Männikkö R, Ray PN, Yoon G.
Gonorazky HD, et al. Among authors: thor mg.
Neuromuscul Disord. 2017 Jun;27(6):574-580. doi: 10.1016/j.nmd.2017.02.001. Epub 2017 Feb 8.
Neuromuscul Disord. 2017.
PMID: 28262468
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Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Männikkö R, Wong L, Tester DJ, Thor MG, Sud R, Kullmann DM, Sweeney MG, Leu C, Sisodiya SM, FitzPatrick DR, Evans MJ, Jeffrey IJM, Tfelt-Hansen J, Cohen MC, Fleming PJ, Jaye A, Simpson MA, Ackerman MJ, Hanna MG, Behr ER, Matthews E.
Männikkö R, et al. Among authors: thor mg.
Lancet. 2018 Apr 14;391(10129):1483-1492. doi: 10.1016/S0140-6736(18)30021-7. Epub 2018 Apr 5.
Lancet. 2018.
PMID: 29605429
Free PMC article.
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Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F.
Zaharieva IT, et al. Among authors: thor mg.
Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.
Brain. 2016.
PMID: 26700687
Free PMC article.
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Contrasting roles of Ih and the persistent sodium current at subthreshold voltages during naturalistic stimuli.
Thor MG, Morris G.
Thor MG, et al.
J Neurophysiol. 2016 Nov 1;116(5):2001-2003. doi: 10.1152/jn.00031.2016. Epub 2016 Feb 24.
J Neurophysiol. 2016.
PMID: 26912587
Free PMC article.
Review.
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Barriers to accessing multiple sclerosis disease-modifying therapies in the Middle East and North Africa region: A regional survey-based study.
Zeineddine M, Al-Hajje A, Salameh P, Helme A, Thor MG, Boumediene F, Yamout B.
Zeineddine M, et al. Among authors: thor mg.
Mult Scler Relat Disord. 2023 Nov;79:104959. doi: 10.1016/j.msard.2023.104959. Epub 2023 Aug 21.
Mult Scler Relat Disord. 2023.
PMID: 37651815
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