Found: 17
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Salbutamol as effective treatment in slow-channel syndrome- first report.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Italian recommendations for diagnosis and management of congenital myasthenic syndromes.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Toll‐like receptors and IL‐7 as potential biomarkers for immune‐mediated necrotizing myopathies.
- Published in:
- European Journal of Immunology, 2023, v. 53, n. 11, p. 1, doi. 10.1002/eji.202250326
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Double-trouble in pediatric neurology: Myotonia congenita combined with charcot-marie-tooth disease type 1a.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 1, p. 145, doi. 10.1002/mus.24205
- By:
- Publication type:
- Article
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 7, p. 1119, doi. 10.1007/s00415-010-5472-0
- By:
- Publication type:
- Article
Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
- Published in:
- FASEB Journal, 2016, v. 30, n. 10, p. 3285, doi. 10.1096/fj.201500079R
- By:
- Publication type:
- Article
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 725, doi. 10.3233/JND-230134
- By:
- Publication type:
- Article
Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 449, doi. 10.3233/JND-221675
- By:
- Publication type:
- Article
Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.
- Published in:
- Acta Myologica, 2020, v. 39, n. 1, p. 36, doi. 10.36185/2532-1900-007
- By:
- Publication type:
- Article
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene.
- Published in:
- Acta Myologica, 2017, v. 36, p. 28
- By:
- Publication type:
- Article
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
- Published in:
- Acta Myologica, 2015, v. 34, n. 2/3, p. 109
- By:
- Publication type:
- Article
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00646
- By:
- Publication type:
- Article
Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome in a Moroccan Family: A Literature Review.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1753, doi. 10.3390/genes14091753
- By:
- Publication type:
- Article
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
- Published in:
- Neurogenetics, 2022, v. 23, n. 1, p. 19, doi. 10.1007/s10048-021-00673-2
- By:
- Publication type:
- Article
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 219, doi. 10.1007/s10048-017-0525-5
- By:
- Publication type:
- Article
Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 447, doi. 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU13>3.0.CO;2-Z
- By:
- Publication type:
- Article