T. Torbergsen

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

Regina C. Betz, Benedikt Schoser, Dagmar Kasper et al. · Nature Genetics · 2001 · 210 citations

Natural Sciences, Genetics, Molecular Genetics +16

Andrology: Mitochondrial disease and reduced sperm motility

T. Folgerø, Kjell Bertheussen, Sigurd Lindal et al. · Human Reproduction · 1993 · 197 citations

Medicine, Gynecology, Obstetrics +17

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Sophie Nicole, Amina Chaouch, T. Torbergsen et al. · Brain · 2014 · 102 citations · Full text

Medicine, Genetics, Neurology +15

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

Chen Sun, Lisbeth Tranebjærg, T. Torbergsen et al. · European Journal of Human Genetics · 2001 · 102 citations

Life Sciences, Genetics, Molecular Genetics +4

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Sissel Løseth, Nicol C. Voermans, T. Torbergsen et al. · Journal of Neurology · 2013 · 94 citations

Medicine, Genetics, Molecular Genetics +12