Publications by authors named "Torberg Torbergsen"

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Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
Torberg Torbergsen, Karin Jurkat-Rott, Erik V Stålberg, Sissel Løseth, Anne Hødneø

Muscle Nerve· October 2015

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A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia.
Kristin Ørstavik, Sean Ciaran Wallace, Torberg Torbergsen, Angela Abicht, Svein Erik Tangsrud

J Neuromuscul Dis· June 2015

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Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Sophie Nicole, Amina Chaouch, Torberg Torbergsen, Stéphanie Bauché, Elodie de Bruyckere

Brain· September 2014

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A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Sissel Løseth, Nicol C Voermans, Torberg Torbergsen, Sue Lillis, Christoffer Jonsrud

J Neurol· June 2013

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[Electromyography (EMG) and neurography in patients with severe neuromuscular diseases].
Sissel Løseth, Torberg Torbergsen

Tidsskr Nor Laegeforen· January 2013

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[A seriously ill patient who does not wake up after mechanical ventilation].
Kristin Ørstavik, Sigrid Svalheim, Ragnar Gunnarsson, Inge-Margrethe Gilboe, Torberg Torbergsen

Tidsskr Nor Laegeforen· April 2012

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Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.
Eva Stensland, Sigurd Lindal, Christoffer Jonsrud, Torberg Torbergsen, Laurence A Bindoff

Neuromuscul Disord· January 2011

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[Intravenous IgG for treatment of neuromuscular diseases].
Christian A Vedeler, Svein Ivar Mellgren, Roald Omdal, Torberg Torbergsen, Jan Aasly

Tidsskr Nor Laegeforen· September 2010

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Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Christian Kubisch, Benedikt G H Schoser, Monika von Düring, Regina C Betz, Hans-Hilmar Goebel, Torberg Torbergsen

Ann Neurol· April 2003

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The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1.
Maike Warnstedt, Chen Sun, Barbara Poser, Maria Jose Escriva, Lisbeth Tranebjaerg, Torberg Torbergsen

J Neurosci· September 2002

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Rippling muscle disease: a review.
Torberg Torbergsen

Muscle Nerve Suppl· August 2002

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