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Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H. Nicole S, et al. Among authors: loseth s. Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20. Brain. 2014. PMID: 24951643
A rare form of painful nondystrophic myotonia.
Torbergsen T, Hødnebø A, Brautaset NJ, Løseth S, Stålberg E. Torbergsen T, et al. Among authors: loseth s. Clin Neurophysiol. 2003 Dec;114(12):2347-54. doi: 10.1016/s1388-2457(03)00275-x. Clin Neurophysiol. 2003. PMID: 14652094
Peripheral neuropathy caused by severe hypothermia.
Løseth S, Bågenholm A, Torbergsen T, Stålberg E. Løseth S, et al. Clin Neurophysiol. 2013 May;124(5):1019-24. doi: 10.1016/j.clinph.2012.11.002. Epub 2012 Dec 7. Clin Neurophysiol. 2013. PMID: 23219243
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Løseth S, Voermans NC, Torbergsen T, Lillis S, Jonsrud C, Lindal S, Kamsteeg EJ, Lammens M, Broman M, Dekomien G, Maddison P, Muntoni F, Sewry C, Radunovic A, de Visser M, Straub V, van Engelen B, Jungbluth H. Løseth S, et al. J Neurol. 2013 Jun;260(6):1504-10. doi: 10.1007/s00415-012-6817-7. Epub 2013 Jan 18. J Neurol. 2013. PMID: 23329375
32 results