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Rippling muscle disease: a review.
Torbergsen T. Torbergsen T. Muscle Nerve Suppl. 2002;11:S103-7. doi: 10.1002/mus.10156. Muscle Nerve Suppl. 2002. PMID: 12116294 Review.
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. Among authors: torbergsen t. J Neurol. 2013 Jun;260(6):1504-10. doi: 10.1007/s00415-012-6817-7. Epub 2013 Jan 18. J Neurol. 2013. PMID: 23329375
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Kubisch C, et al. Among authors: torbergsen t. Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. Ann Neurol. 2003. PMID: 12666119
Pre-eclampsia--a mitochondrial disease?
Torbergsen T, Oian P, Mathiesen E, Borud O. Torbergsen T, et al. Acta Obstet Gynecol Scand. 1989;68(2):145-8. doi: 10.3109/00016348909009902. Acta Obstet Gynecol Scand. 1989. PMID: 2589041
52 results