Found: 24
Select item for more details and to access through your institution.
The impact of rare variants in FUS in essential tremor.
- Published in:
- Movement Disorders, 2015, v. 30, n. 5, p. 721, doi. 10.1002/mds.26145
- By:
- Publication type:
- Article
No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease.
- Published in:
- Movement Disorders, 2013, v. 28, n. 9, p. 1305, doi. 10.1002/mds.25330
- By:
- Publication type:
- Article
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia.
- Published in:
- Neurogenetics, 2021, v. 22, n. 2, p. 143, doi. 10.1007/s10048-021-00639-4
- By:
- Publication type:
- Article
Genome-wide association study in essential tremor identifies three new loci.
- Published in:
- Brain: A Journal of Neurology, 2016, v. 139, n. 12, p. 3163, doi. 10.1093/brain/aww242
- By:
- Publication type:
- Article
KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 2, p. 332, doi. 10.1002/ana.26662
- By:
- Publication type:
- Article
Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1429, doi. 10.1002/acn3.51062
- By:
- Publication type:
- Article
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.663643
- By:
- Publication type:
- Article
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 7, p. 1421, doi. 10.1007/s00415-017-8539-3
- By:
- Publication type:
- Article
Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 1, p. 11, doi. 10.1007/s00415-015-7921-2
- By:
- Publication type:
- Article
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.
- Published in:
- Cytoskeleton, 2019, v. 76, n. 1, p. 131, doi. 10.1002/cm.21479
- By:
- Publication type:
- Article
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
- By:
- Publication type:
- Article
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
- Published in:
- Genome Medicine, 2018, v. 10, p. 1, doi. 10.1186/s13073-017-0510-5
- By:
- Publication type:
- Article
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12671-y
- By:
- Publication type:
- Article
KCNC2 variants of uncertain significance are also associated to various forms of epilepsy.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1212079
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 737, doi. 10.1002/humu.23006
- By:
- Publication type:
- Article
Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 8, p. 1970, doi. 10.1111/epi.17296
- By:
- Publication type:
- Article
PIGN encephalopathy: Characterizing the epileptology.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 4, p. 974, doi. 10.1111/epi.17173
- By:
- Publication type:
- Article
Lessons learned from 40 novel PIGA patients and a review of the literature.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 6, p. 1142, doi. 10.1111/epi.16545
- By:
- Publication type:
- Article
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 5, p. 995, doi. 10.1111/epi.16508
- By:
- Publication type:
- Article
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 6, p. e67, doi. 10.1111/epi.15665
- By:
- Publication type:
- Article
Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 4, p. 549, doi. 10.1111/epi.13318
- By:
- 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
- By:
- Publication type:
- Article
Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus.
- Published in:
- 2014
- By:
- Publication type:
- Case Study