Found: 18
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Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 4, p. 1393, doi. 10.1002/epi4.12966
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- Article
Cystatin B deficiency results in sustained histone H3 tail cleavage in postnatal mouse brain mediated by increased chromatin-associated cathepsin L activity.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.1069122
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- Article
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 2, p. 402, doi. 10.1002/ana.25941
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- Article
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
- Published in:
- Brain: A Journal of Neurology, 2017, v. 140, n. 5, p. 1267, doi. 10.1093/brain/awx040
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- Article
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
- Published in:
- 2017
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- Publication type:
- journal article
Brain inflammation is accompanied by peripheral inflammation in Cstb<sup>-/-</sup> mice, a model for progressive myoclonus epilepsy.
- Published in:
- Journal of Neuroinflammation, 2016, v. 13, p. 1, doi. 10.1186/s12974-016-0764-7
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- Article
Brain inflammation is accompanied by peripheral inflammation in Cstb <sup>-/-</sup> mice, a model for progressive myoclonus epilepsy.
- Published in:
- 2016
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- Publication type:
- journal article
Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb<sup>-/-</sup> Microglia.
- Published in:
- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0158195
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- Article
Abnormal microglial activation in the Cstb<sup>−/−</sup> mouse, a model for progressive myoclonus epilepsy, EPM1.
- Published in:
- Glia, 2015, v. 63, n. 3, p. 400, doi. 10.1002/glia.22760
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- Publication type:
- Article
Gene Expression Alterations in the Cerebellum and Granule Neurons of <i>Cstb<sup>−/−</sup></i> Mouse Are Associated with Early Synaptic Changes and Inflammation.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089321
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- Publication type:
- Article
Unverricht-Lundborg Disease in Turkey: Delineating The Phenotype Between Cystatin B Mutation Positive and Negative Cases.
- Published in:
- Journal of Neurological Sciences, 2010, v. 27, n. 1, p. 1
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- Publication type:
- Article
Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 18, p. 5910, doi. 10.1523/JNEUROSCI.0682-09.2009
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- Publication type:
- Article
Molecular background of EPM1—Unverricht–Lundborg disease.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 4, p. 557, doi. 10.1111/j.1528-1167.2007.01422.x
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- Publication type:
- Article
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
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- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 185, doi. 10.1038/sj.ejhg.5201723
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- Article
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
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- Publication type:
- Article
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 6, p. 339, doi. 10.1038/sj.ejhg.5200831
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- Publication type:
- Article
A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.
- Published in:
- Human Mutation, 2000, v. 16, n. 1, p. 94, doi. 10.1002/1098-1004(200007)16:1<94::AID-HUMU25>3.0.CO;2-T
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- Publication type:
- Article
Mutations in KERA, encoding keratocan, cause cornea plana.
- Published in:
- Nature Genetics, 2000, v. 25, n. 1, p. 91, doi. 10.1038/75664
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- Article