Torbergsen T - Search Results

1

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: torbergsen t. Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20. Brain. 2014. PMID: 24951643

2

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

3

Nerve-muscle involvement in a large family with mitochondrial cytopathy: electrophysiological studies.

Torbergsen T, Stålberg E, Bless JK. Torbergsen T, et al. Muscle Nerve. 1991 Jan;14(1):35-41. doi: 10.1002/mus.880140107. Muscle Nerve. 1991. PMID: 1846937

4

Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.

Torbergsen T, Jurkat-Rott K, Stålberg EV, Løseth S, Hødneø A, Lehmann-Horn F. Torbergsen T, et al. Muscle Nerve. 2015 Oct;52(4):680-3. doi: 10.1002/mus.24672. Epub 2015 Jun 30. Muscle Nerve. 2015. PMID: 26080010

5

Peripheral neuropathy caused by severe hypothermia.

Løseth S, Bågenholm A, Torbergsen T, Stålberg E. Løseth S, et al. Among authors: torbergsen t. 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

6

[Electromyography (EMG) and neurography in patients with severe neuromuscular diseases].

Løseth S, Torbergsen T. Løseth S, et al. Among authors: torbergsen t. Tidsskr Nor Laegeforen. 2013 Jan 22;133(2):174-8. doi: 10.4045/tidsskr.12.0184. Tidsskr Nor Laegeforen. 2013. PMID: 23344603 Free article. Review. Norwegian.

7

Generator sites for spontaneous activity in neuromyotonia. An EMG study.

Torbergsen T, Stålberg E, Brautaset NJ. Torbergsen T, et al. Electroencephalogr Clin Neurophysiol. 1996 Apr;101(2):69-78. doi: 10.1016/0924-980x(95)00235-d. Electroencephalogr Clin Neurophysiol. 1996. PMID: 8647024

8

A rare form of painful nondystrophic myotonia.

Torbergsen T, Hødnebø A, Brautaset NJ, Løseth S, Stålberg E. Torbergsen T, et al. Clin Neurophysiol. 2003 Dec;114(12):2347-54. doi: 10.1016/s1388-2457(03)00275-x. Clin Neurophysiol. 2003. PMID: 14652094

9

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T. Sun C, et al. Among authors: torbergsen t. Clin Genet. 2011 Dec;80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub 2011 Jan 19. Clin Genet. 2011. PMID: 21204798

10

Myopathy in Marinesco-Sjögren syndrome: an electrophysiological study.

Torbergsen T, Stålberg E, Aasly J, Lindal S. Torbergsen T, et al. Acta Neurol Scand. 1991 Aug;84(2):132-8. doi: 10.1111/j.1600-0404.1991.tb04921.x. Acta Neurol Scand. 1991. PMID: 1659103

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