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

Muscle & Nerve, 2015, Vol.52 (4), p.680-683

2015

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

Muscle & nerve, 2015-10, Vol.52 (4), p.680-683

2015

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A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia

Journal of neuromuscular diseases, 2015-06, Vol.2 (2), p.181-184

2015

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

Brain (London, England : 1878), 2014-09, Vol.137 (Pt 9), p.2429-2443

2014

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

Journal of neurology, 2013-06, Vol.260 (6), p.1504-1510

2013

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

Tidsskrift for den Norske Lægeforening, 2013-01, Vol.133 (2), p.174-178

2013

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Elektromyografi og nevrografi ved alvorlig nevromuskulær sykdom

Tidsskrift for den Norske Lægeforening, 2013, Vol.133 (2), p.174-178

2013

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Torbergsens sykdom

Tidsskrift for den Norske Lægeforening, 2013, Vol.133 (1), p.25-27

2013

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A seriously ill patient who does not wake up after mechanical ventilation

Tidsskrift for den Norske Lægeforening, 2012-04, Vol.132 (7), p.822-825

2012

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En alvorlig syk pasient som ikke våknet etter respiratorbehandling

Tidsskrift for den Norske Lægeforening, 2012, Vol.132 (7), p.822-825

2012

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Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

Neuromuscular disorders : NMD, 2011-01, Vol.21 (1), p.41-46

2011

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Intravenous IgG for treatment of neuromuscular diseases

Tidsskrift for den Norske Lægeforening, 2010-09, Vol.130 (17), p.1717-1720

2010

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

European journal of human genetics : EJHG, 2010-02, Vol.18 (2), p.264-264

2010

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

European journal of human genetics : EJHG, 2010-01, Vol.18 (2), p.264-264

2010

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Intravenøs IgG-behandling av nevromuskulære sykdommer

Tidsskrift for den Norske Lægeforening, 2010, Vol.130 (17), p.1717-1720

2010

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Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease

Annals of neurology, 2003-04, Vol.53 (4), p.512-520

2003

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Chapter 26 Involuntary muscle contraction of peripheral origin

Handbook of Clinical Neurophysiology, 2003, Vol.2, p.531-540

Torbergsen, Torberg

2003

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The Myotonia Congenita Mutation A331T Confers a Novel Hyperpolarization-Activated Gate to the Muscle Chloride Channel ClC-1

The Journal of neuroscience, 2002-09, Vol.22 (17), p.7462-7470

2002

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Rippling muscle disease: A review

Muscle & nerve, 2002, Vol.25 (S11), p.S103-S107

Torbergsen, Torberg

2002

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

European journal of human genetics : EJHG, 2001-12, Vol.9 (12), p.903-909

2001

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

Nature genetics, 2001-07, Vol.28 (3), p.218-219

2001

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Increased risk of median nerve dysfunction in floor cleaners: a controlled clinical and neurophysiological study

Scandinavian journal of plastic and reconstructive surgery and hand surgery, 2001, Vol.35 (3), p.317-321

2001

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Myopathy and neuropathy in rheumatoid arthritis. A quantitative controlled electromyographic study

Journal of rheumatology, 1999-11, Vol.26 (11), p.2348

1999

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Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Genomics (San Diego, Calif.), 1999-05, Vol.58 (1), p.34-40

1999

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Mutations in mitochondrial transfer ribonucleic acid genes in preeclampsia

American journal of obstetrics and gynecology, 1996-05, Vol.174 (5), p.1626-1630

1996

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

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

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia

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

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

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

Elektromyografi og nevrografi ved alvorlig nevromuskulær sykdom

Torbergsens sykdom

A seriously ill patient who does not wake up after mechanical ventilation

En alvorlig syk pasient som ikke våknet etter respiratorbehandling

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

Intravenous IgG for treatment of neuromuscular diseases

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

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

Intravenøs IgG-behandling av nevromuskulære sykdommer

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease

Chapter 26 Involuntary muscle contraction of peripheral origin

The Myotonia Congenita Mutation A331T Confers a Novel Hyperpolarization-Activated Gate to the Muscle Chloride Channel ClC-1

Rippling muscle disease: A review

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

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

Increased risk of median nerve dysfunction in floor cleaners: a controlled clinical and neurophysiological study

Myopathy and neuropathy in rheumatoid arthritis. A quantitative controlled electromyographic study

Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Mutations in mitochondrial transfer ribonucleic acid genes in preeclampsia

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