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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
- Published in:
- 2022
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- Publication type:
- journal article
Kufs or not Kufs: challenging diagnostics of a rare adult-onset neurodegenerative disease.
- Published in:
- 2019
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- Publication type:
- journal article
Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
- Published in:
- 2017
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- Publication type:
- Letter
CHD2 variants are a risk factor for photosensitivity in epilepsy.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 5, p. 1198, doi. 10.1093/brain/awv052
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- Publication type:
- Article
Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings.
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- Epilepsia (Series 4), 2013, v. 54, n. 9, p. 1577, doi. 10.1111/epi.12256
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- Publication type:
- Article
Unverricht-Lundborg disease and ceroid lipofuscinoses.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, p. 76, doi. 10.1111/j.1528-1167.2010.02862.x
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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
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
Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2016, v. 22, n. 2, p. 84, doi. 10.4274/tnd.32650
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- 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
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- Publication type:
- 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
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.
- Published in:
- Nature Genetics, 2000, v. 25, n. 3, p. 298, doi. 10.1038/77053
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- Publication type:
- Article
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 233, doi. 10.1038/13868
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- Publication type:
- Article
Progressive Volume Loss and White Matter Degeneration in Cstb-Deficient Mice: A Diffusion Tensor and Longitudinal Volumetry MRI Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090709
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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
Myopathy is a prominent feature in Marinesco-Sjögren syndrome.
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- Journal of Neurology, 2006, v. 253, n. 3, p. 301, doi. 10.1007/s00415-005-0983-9
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- Publication type:
- Article
The GENCODE exome: sequencing the complete human exome.
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- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 827, doi. 10.1038/ejhg.2011.28
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- Publication type:
- Article
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome.
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- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 961, doi. 10.1038/ejhg.2008.22
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- Publication type:
- Article
Linkage and association analysis of CACNG3 in childhood absence epilepsy.
- Published in:
- 2008
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- Publication type:
- Erratum
Linkage and association analysis of CACNG3 in childhood absence epilepsy.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201783
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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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- Publication type:
- Article
Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 435, doi. 10.1038/sj.ejhg.5201355
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- Publication type:
- Article
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 208, doi. 10.1038/sj.ejhg.5201300
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- Publication type:
- Article
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
- Published in:
- 2005
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- Publication type:
- Correction Notice
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
Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation.
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- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 381, doi. 10.1038/sj.ejhg.5200440
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- Publication type:
- Article
Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1.
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- Journal of Neuroscience, 2009, v. 29, n. 18, p. 5910, doi. 10.1523/JNEUROSCI.0682-09.2009
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- Publication type:
- Article
The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy.
- Published in:
- BMC Neuroscience, 2005, v. 6, p. 1, doi. 10.1186/1471-2202-6-27
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- Publication type:
- Article
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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- Publication type:
- 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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- Publication type:
- Article
Microglial phagocytosis dysfunction in the dentate gyrus is related to local neuronal activity in a genetic model of epilepsy.
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- Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2593, doi. 10.1111/epi.16692
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- Publication type:
- Article
The spectrum of intermediate SCN8A‐related epilepsy.
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- Epilepsia (Series 4), 2019, v. 60, n. 5, p. 830, doi. 10.1111/epi.14705
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- Publication type:
- Article
Defining the phenotypic spectrum of <italic>SLC6A1</italic> mutations.
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- Epilepsia (Series 4), 2018, v. 59, n. 2, p. 389, doi. 10.1111/epi.13986
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- Publication type:
- Article
Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study.
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- Epilepsia (Series 4), 2016, v. 57, n. 10, p. 1594, doi. 10.1111/epi.13514
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- Publication type:
- Article
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).
- Published in:
- 2009
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- Publication type:
- Report
NCOR2 is a novel candidate gene for migraine-epilepsy phenotype.
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- Cephalalgia, 2022, v. 42, n. 7, p. 631, doi. 10.1177/03331024211068065
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- Publication type:
- Article
Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 493, doi. 10.1111/cge.13827
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- Publication type:
- Article
In depth behavioral phenotyping unravels complex motor disturbances in Cstb<sup>−/−</sup> mouse, a model for progressive myoclonus epilepsy type 1.
- Published in:
- Frontiers in Behavioral Neuroscience, 2024, p. 1, doi. 10.3389/fnbeh.2023.1325051
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- Publication type:
- 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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- Publication type:
- Article
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
- Published in:
- 2016
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- Publication type:
- journal article
Leukoencephalopathy, cerebral calcifications and cysts: a family study.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 10, p. 1911, doi. 10.1007/s00415-014-7393-9
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- Publication type:
- Article
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 5, p. 1234, doi. 10.1007/s00415-012-6777-y
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- Publication type:
- Article
Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues.
- Published in:
- Histochemistry & Cell Biology, 2006, v. 126, n. 3, p. 325, doi. 10.1007/s00418-006-0162-9
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- Publication type:
- Article
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.
- Published in:
- Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae142
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- Publication type:
- Article
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 568, doi. 10.1002/mgg3.235
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- Publication type:
- Article
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 16, p. 4483, doi. 10.1093/hmg/ddv171
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- Publication type:
- Article
Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons.
- Published in:
- European Journal of Neuroscience, 2000, v. 12, n. 5, p. 1687, doi. 10.1046/j.1460-9568.2000.00058.x
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- Publication type:
- 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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- Publication type:
- Article
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150426
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- Publication type:
- Article
Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice.
- Published in:
- Frontiers in Molecular Neuroscience, 2020, v. 13, p. N.PAG, doi. 10.3389/fnmol.2020.570640
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- Publication type:
- Article