Found: 14
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β-enolase deficiency, a new metabolic myopathy of distal glycolysis.
- Published in:
- Annals of Neurology, 2001, v. 50, n. 2, p. 202, doi. 10.1002/ana.1095
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- Publication type:
- Article
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.
- Published in:
- Molecular Biology Reports, 2014, v. 41, n. 5, p. 2865, doi. 10.1007/s11033-014-3142-5
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- Publication type:
- Article
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na<sub>v</sub>1.4.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00255
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- Publication type:
- Article
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na<sub>v</sub>1.4.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00255
- By:
- Publication type:
- Article
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1273, doi. 10.1002/humu.23581
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- Publication type:
- Article
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 170, doi. 10.1038/jhg.2011.122
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- Publication type:
- Article
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 12, p. 5365, doi. 10.1007/s10072-021-05538-y
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- Publication type:
- Article
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 12, p. 5359, doi. 10.1007/s10072-021-05537-z
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- Publication type:
- Article
Novel Lys215Asn mutation in an Italian family with Thomsen myotonia.
- Published in:
- 2018
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- Publication type:
- case study
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 258, doi. 10.1002/humu.20642
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- Publication type:
- Article
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.845383
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- Publication type:
- Article
Optimized Detection of DNA Point Mutations by Double Gradient Denaturing Gradient Gel Electrophoresis.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 1998, v. 36, n. 12, p. 959
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- Publication type:
- Article
Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice.
- Published in:
- Carcinogenesis, 2019, v. 40, n. 1, p. 194, doi. 10.1093/carcin/bgy139
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- Publication type:
- Article
Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1359479
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- Publication type:
- Article