Torbergsen T - Search Results

1

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

2

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Betz RC, Schoser BG, Kasper D, Ricker K, Ramírez A, Stein V, Torbergsen T, Lee YA, Nöthen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C. Betz RC, et al. Among authors: torbergsen t. Nat Genet. 2001 Jul;28(3):218-9. doi: 10.1038/90050. Nat Genet. 2001. PMID: 11431690

3

Epilepsy in a mitochondrial disorder.

Torbergsen T, Mathiesen E, Aasly J. Torbergsen T, et al. J Neurol Neurosurg Psychiatry. 1991 Dec;54(12):1073-6. doi: 10.1136/jnnp.54.12.1073. J Neurol Neurosurg Psychiatry. 1991. PMID: 1783920 Free PMC article.

4

Early mitochondrial changes in chronic progressive ocular myopathy.

Aasly J, Lindal S, Torbergsen T, Borud O, Mellgren SI. Aasly J, et al. Among authors: torbergsen t. Eur Neurol. 1990;30(6):314-8. doi: 10.1159/000117363. Eur Neurol. 1990. PMID: 1963142

5

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

6

Mitochondrial diseases and myopathies: a series of muscle biopsy specimens with ultrastructural changes in the mitochondria.

Lindal S, Lund I, Torbergsen T, Aasly J, Mellgren SI, Borud O, Monstad P. Lindal S, et al. Among authors: torbergsen t. Ultrastruct Pathol. 1992 May-Jun;16(3):263-75. doi: 10.3109/01913129209061355. Ultrastruct Pathol. 1992. PMID: 1316655

7

[Mitochondrial diseases. Diagnostic light and electron microscopic changes in muscle biopsies from patients with mitochondrial myopathy].

Lindal S, Lund I, Borud O, Torbergsen T, Aasly J, Mellgren SI. Lindal S, et al. Among authors: torbergsen t. Tidsskr Nor Laegeforen. 1991 Jan 20;111(2):202-6. Tidsskr Nor Laegeforen. 1991. PMID: 1998182 Norwegian.

8

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

9

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.

10

Mitochondrial myopathy in Marinesco-Sjögren syndrome.

Torbergsen T, Aasly J, Borud O, Lindal S, Mellgren SI. Torbergsen T, et al. J Ment Defic Res. 1991 Apr;35 ( Pt 2):154-9. doi: 10.1111/j.1365-2788.1991.tb01045.x. J Ment Defic Res. 1991. PMID: 2072394

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