Found: 37
Select item for more details and to access through your institution.
Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities.
- Published in:
- Expert Reviews in Molecular Medicine, 2020, v. 22, p. 1, doi. 10.1017/erm.2020.5
- By:
- Publication type:
- Article
Mild Lafora disease: Clinical, neurophysiologic, and genetic findings.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 12, p. e129, doi. 10.1111/epi.12806
- By:
- Publication type:
- Article
Strategies for studying the epilepsy genome.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, p. 58, doi. 10.1111/j.1528-1167.2010.02844.x
- By:
- Publication type:
- Article
Gene defects in progressive myoclonus epilepsy.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, p. 75, doi. 10.1111/j.1528-1167.2010.02861.x
- By:
- Publication type:
- Article
Familial partial epilepsy with variable foci: A new family with suggestion of linkage to chromosome 22q12.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1910, doi. 10.1111/j.1528-1167.2010.02680.x
- By:
- Publication type:
- Article
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 3, p. 516, doi. 10.1111/j.1528-1167.2007.01328.x
- By:
- Publication type:
- Article
Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 5, p. 1011, doi. 10.1111/j.1528-1167.2007.01004.x
- By:
- Publication type:
- Article
Comment.
- Published in:
- 2006
- By:
- Publication type:
- Letter
MRI Volumetry and Proton MR Spectroscopy of the Brain in Lafora Disease.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, n. 4, p. 788, doi. 10.1111/j.1528-1167.2006.00526.x
- By:
- Publication type:
- Article
Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, n. 9, p. 1054, doi. 10.1111/j.0013-9580.2004.30502.x
- By:
- Publication type:
- Article
ILAE Commission Report Evaluations and Awards at the Fifth European Congress of Epileptology, Madrid, 6–10 October 2002.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, n. 4, p. 396, doi. 10.1111/j.0013-9580.2004.63903.x
- By:
- Publication type:
- Article
Is Refractory Epilepsy Preventable?
- Published in:
- Epilepsia (Series 4), 2002, v. 43, n. 4, p. 437, doi. 10.1046/j.1528-1157.2002.38501.x
- By:
- Publication type:
- Article
Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7771, doi. 10.3390/ijms21207771
- By:
- Publication type:
- Article
Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 4, p. 1092, doi. 10.3390/ijms19041092
- By:
- Publication type:
- Article
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
- Published in:
- Nature Genetics, 2015, v. 47, n. 4, p. 393, doi. 10.1038/ng.3239
- By:
- 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
- By:
- Publication type:
- Article
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 946, doi. 10.1038/sj.ejhg.5200571
- By:
- Publication type:
- Article
Spanish consensus on the management of concomitant antiseizure medications when using cenobamate in adults with drug‐resistant focal seizures.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 3, p. 1051, doi. 10.1002/epi4.12936
- By:
- Publication type:
- Article
Antiepileptogenesis after stroke—trials and tribulations: Methodological challenges and recruitment results of a Phase II study with eslicarbazepine acetate.
- Published in:
- Epilepsia Open, 2023, v. 8, n. 3, p. 1190, doi. 10.1002/epi4.12735
- By:
- Publication type:
- Article
Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole.
- Published in:
- Frontiers in Neuroscience, 2014, p. 1, doi. 10.3389/fnins.2014.00291
- By:
- Publication type:
- Article
Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, p. S9, doi. 10.1111/epi.17595
- By:
- Publication type:
- Article
Sodium selenate treatment improves symptoms and seizure susceptibility in a malin-deficient mouse model of Lafora disease.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 3, p. 467, doi. 10.1111/epi.13656
- By:
- Publication type:
- Article
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4366, doi. 10.1093/hmg/dds291
- By:
- Publication type:
- Article
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1521, doi. 10.1093/hmg/ddr590
- By:
- Publication type:
- Article
Onset of efficacy and adverse events during Cenobamate titration period.
- Published in:
- Acta Neurologica Scandinavica, 2022, v. 146, n. 3, p. 265, doi. 10.1111/ane.13659
- By:
- Publication type:
- Article
Clinical outcomes of eslicarbazepine acetate monotherapy for focal‐onset seizures: A multicenter audit.
- Published in:
- Acta Neurologica Scandinavica, 2019, v. 140, n. 6, p. 422, doi. 10.1111/ane.13162
- By:
- Publication type:
- Article
Genetic Heterogeneity in the Epilepsies.
- Published in:
- Psychiatry & Clinical Neurosciences, 1994, v. 48, n. 2, p. 197, doi. 10.1111/j.1440-1819.1994.tb03050.x
- By:
- Publication type:
- Article
<sup>29</sup>Si MAS-N.M.R. spectra of lamellar silicic acid H-magadiite and its trimethylsilyl derivative.
- Published in:
- Zeitschrift für Anorganische und Allgemeine Chemie, 1986, v. 540, n. 9/10, p. 227, doi. 10.1002/zaac.19865400925
- By:
- Publication type:
- Article
Infra-Red Absorption of OH Bonds in Micas.
- Published in:
- Nature, 1958, v. 181, n. 4602, p. 111, doi. 10.1038/181111a0
- By:
- Publication type:
- Article
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 609, p. 1, doi. 10.1126/scitranslmed.aaz4957
- By:
- Publication type:
- Article
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Cortical myoclonus in angelman syndrome.
- Published in:
- Annals of Neurology, 1996, v. 40, n. 1, p. 39, doi. 10.1002/ana.410400109
- By:
- Publication type:
- Article
Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy.
- Published in:
- Annals of Neurology, 1996, v. 39, n. 2, p. 187, doi. 10.1002/ana.410390208
- By:
- Publication type:
- Article
A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
- Published in:
- Movement Disorders, 2012, v. 27, n. 14, p. 1827, doi. 10.1002/mds.25114
- By:
- Publication type:
- Article
Subthalamic lesion and paroxysmal tonic spasms (A videotape accompanies this article.).
- Published in:
- Movement Disorders, 2003, v. 18, n. 11, p. 1401, doi. 10.1002/mds.10516
- By:
- Publication type:
- Article
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 2, p. 345, doi. 10.1093/hmg/8.2.345
- By:
- Publication type:
- Article
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0188978
- By:
- Publication type:
- Article