Found: 12
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Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1226, doi. 10.1038/ejhg.2013.39
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- Publication type:
- Article
Genetics of Epilepsy and Relevance to Current Practice.
- Published in:
- Current Neurology & Neuroscience Reports, 2012, v. 12, n. 4, p. 445, doi. 10.1007/s11910-012-0281-8
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- Publication type:
- Article
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 5, p. 825, doi. 10.1002/ana.26765
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- Publication type:
- Article
Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy.
- Published in:
- 2018
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- Publication type:
- journal article
The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway.
- Published in:
- Arthritis Research & Therapy, 2015, v. 17, n. 1, p. 1, doi. 10.1186/s13075-015-0604-7
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- Publication type:
- Article
The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway
- Published in:
- Arthritis Research & Therapy, 2015, v. 17, n. 1, p. 93, doi. 10.1186/s13075-015-0604-7
- By:
- Publication type:
- Article
A de novo pathogenic variant in MICAL‐1 causes epilepsy with auditory features.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 3, p. 1083, doi. 10.1002/epi4.12937
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- Publication type:
- Article
Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 5, p. 665, doi. 10.1093/hmg/ddab271
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- Publication type:
- Article
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 10, p. e168, doi. 10.1111/epi.13094
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- Publication type:
- Article
Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 10, p. 1, doi. 10.1371/journal.pgen.1006376
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- Publication type:
- Article
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.
- Published in:
- European Heart Journal, 2013, v. 34, n. 3, p. 201, doi. 10.1093/eurheartj/ehs373
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- Publication type:
- Article
A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt signalling and miRNA dysregulation.
- Published in:
- Cardiovascular Research, 2019, v. 115, n. 4, p. 739, doi. 10.1093/cvr/cvy253
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- Publication type:
- Article