Found: 12
Select item for more details and to access through your institution.
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
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
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
Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy.
- Published in:
- FASEB Journal, 2019, v. 33, n. 6, p. 7155, doi. 10.1096/fj.201801577RR
- 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
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
Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community.
- Published in:
- Open Journal of Bioresources, 2017, v. 4, p. 1, doi. 10.5334/ojb.29
- By:
- Publication type:
- 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
Decorin and biglycan expression is differentially altered in several muscular dystrophies.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 11, p. 2546, doi. 10.1093/brain/awh635
- 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
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
- By:
- Publication type:
- Article