Found: 12
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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 218, doi. 10.1038/90050
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- Article
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
- Published in:
- 2015
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- Publication type:
- journal article
Rippling muscle disease: A review.
- Published in:
- Muscle & Nerve, 2002, v. 25, n. S11, p. S103, doi. 10.1002/mus.10156
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- Publication type:
- Article
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 903, doi. 10.1038/sj.ejhg.5200736
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- Publication type:
- Article
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2429, doi. 10.1093/brain/awu160
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- Publication type:
- Article
A FAMILY WITH DOMINANT HEREDITARY MYOTONIA, MUSCULAR HYPERTROPHY, AND INCREASED MUSCULAR IRRITABILITY, DISTINCT FROM MYOTONIA CONGENITA THOMSEN.
- Published in:
- Acta Neurologica Scandinavica, 1975, v. 51, n. 3, p. 225, doi. 10.1111/j.1600-0404.1975.tb07603.x
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- Article
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 4, p. 512
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- Publication type:
- Article
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor ( RYR1) gene.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 6, p. 1504, doi. 10.1007/s00415-012-6817-7
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- Publication type:
- Article
Acute postasthmatic amyotrophy (Hopkins' syndrome).
- Published in:
- Muscle & Nerve, 1994, v. 17, n. 7, p. 769, doi. 10.1002/mus.880170711
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- Publication type:
- Article
Abstracts of the international course and symposium in single fibre EMG and quantitative EMG analysis. Tromsø, Norway, June 4-8, 1984.
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- Muscle & Nerve, 1986, v. 9, n. 6, p. 562, doi. 10.1002/mus.880090614
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- Publication type:
- Article
Elektromyografi og nevrografi ved alvorlig nevromuskulær sykdom.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2013, n. 2, p. 174
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- Publication type:
- Article