Found: 25
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Autosomal dominant essential tremor: a novel family with anticipation.
- Published in:
- Neurological Sciences, 2013, v. 34, n. 5, p. 761, doi. 10.1007/s10072-012-1216-5
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- Publication type:
- Article
In response: DEPDC5 mutations in epilepsy with auditory features.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 2, p. 336, doi. 10.1111/epi.13255
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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
Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 10, p. 1651, doi. 10.1111/epi.12767
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- Publication type:
- Article
Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 7, p. 1258, doi. 10.1111/j.1528-1167.2011.03071.x
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- Publication type:
- Article
Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 11, p. 2481, doi. 10.1111/j.1528-1167.2009.02181.x
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- Publication type:
- Article
Lateral temporal lobe epilepsies: Clinical and genetic features.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, p. 52, doi. 10.1111/j.1528-1167.2009.02122.x
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- Publication type:
- Article
Telephone-induced Seizures: A New Type of Reflex Epilepsy.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, n. 3, p. 280, doi. 10.1111/j.0013-9580.2004.39703.x
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- Publication type:
- Article
Stable Stem-Loop and Cruciform DNA Structures: Isolation of Mutants with Rearrangements of the Palindromic Sequence at the Simian Virus 40 Replication Origin.
- Published in:
- Intervirology, 1986, v. 25, n. 3, p. 158, doi. 10.1159/000149671
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- Publication type:
- Article
A PTG Variant Contributes to a Milder Phenotype in Lafora Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021294
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- Publication type:
- Article
A Computational Model of the LGI1 Protein Suggests a Common Binding Site for ADAM Proteins.
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0018142
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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 (FMTLE).
- Published in:
- Journal of Neurology, 2008, v. 255, n. 1, p. 16, doi. 10.1007/s00415-007-0653-1
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- Publication type:
- Article
Analysis of 22 deletion breakpoints in dystrophin intron 49.
- Published in:
- Human Genetics, 2002, v. 110, n. 5, p. 418, doi. 10.1007/s00439-002-0721-7
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- Publication type:
- Article
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
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
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
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 3, p. 455
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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
Galanin pathogenic mutations in temporal lobe epilepsy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3082, doi. 10.1093/hmg/ddv060
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- Publication type:
- Article
Distribution of the epilepsy-related Lgi1 protein in rat cortical neurons.
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- Histochemistry & Cell Biology, 2009, v. 132, n. 5, p. 505, doi. 10.1007/s00418-009-0637-6
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- Publication type:
- Article
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.
- Published in:
- 2009
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- Publication type:
- Other
The LGI1/Epitempin gene encodes two protein isoforms differentially expressed in human brain.
- Published in:
- Journal of Neurochemistry, 2006, v. 98, n. 3, p. 985, doi. 10.1111/j.1471-4159.2006.03939.x
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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