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A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 9, p. 581, doi. 10.1038/jhg.2013.58
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- Article
VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis.
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- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 5, p. 329, doi. 10.1002/acn3.51
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- Article
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
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- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00646
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- Article
Inflammation and Epstein-Barr Virus Infection Are Common Features of Myasthenia Gravis Thymus: Possible Roles in Pathogenesis.
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- Autoimmune Diseases (2090-0422), 2011, p. 1, doi. 10.4061/2011/213092
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- Article
Central core disease and susceptibility to malignant hyperthermia in a single family.
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- 2009
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- Publication type:
- Letter
A New Thiopurine S-Methyltransferase Haplotype Associated With Intolerance to Azathioprine.
- Published in:
- Journal of Clinical Pharmacology, 2013, v. 53, n. 1, p. 67, doi. 10.1177/0091270011435989
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- Article