Works matching DE "MYOCLONUS genetics"
Results: 24
Olfactory Hallucinations without Clinical Motor Activity: A Comparison of Unirhinal with Birhinal Phantosmia.
- Published in:
- Brain Sciences (2076-3425), 2013, v. 3, n. 4, p. 1483, doi. 10.3390/brainsci3041483
- By:
- Publication type:
- Article
Expression of CXCR3 and its ligands CXCL9, -10 and -11 in paediatric opsoclonus-myoclonus syndrome.
- Published in:
- Clinical & Experimental Immunology, 2013, v. 172, n. 3, p. 427, doi. 10.1111/cei.12065
- By:
- Publication type:
- Article
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.
- Published in:
- Human Genetics, 2013, v. 132, n. 3, p. 275, doi. 10.1007/s00439-012-1248-1
- By:
- Publication type:
- Article
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 255, doi. 10.1007/s00439-002-0755-x
- By:
- Publication type:
- Article
Sporadic and familial myoclonic dystonia: Report of three cases and review of literature.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Genetic basis for myoclonic epilepsies.
- Published in:
- Acta Neurologica Scandinavica: Supplementum, 2000, v. 102, p. 5
- By:
- Publication type:
- Article
Autosomal Dominant Early-onset Cortical Myoclonus, Photic-induced Myoclonus, and Epilepsy in a Large Pedigree.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1643, doi. 10.1111/j.1528-1167.2006.00636.x
- By:
- Publication type:
- Article
Altered Tryptophan Metabolism in the Brain of Cystatin B-Deficient Mice: A Model System for Progressive Myoclonus Epilepsy.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1650, doi. 10.1111/j.1528-1167.2006.00638.x
- By:
- Publication type:
- Article
Positional Candidate Approach for the Gene Responsible for Benign Adult Familial Myoclonic Epilepsy.
- Published in:
- Epilepsia (Series 4), 2002, v. 43, p. 26, doi. 10.1046/j.1528-1157.43.s.9.7.x
- By:
- Publication type:
- Article
Subcortical Myoclonus and Associated Dystonia in 22q11.2 Deletion Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.
- Published in:
- Nature, 1997, v. 386, n. 6627, p. 847, doi. 10.1038/386847a0
- By:
- Publication type:
- Article
A prickly cause of progressive myoclonic epilepsy.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 3, p. 225, doi. 10.1111/j.1399-0004.2009.01150_1.x
- By:
- Publication type:
- Article
Instability of the EPM1 minisatellite.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 11, p. 1985, doi. 10.1093/hmg/8.11.1985
- 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
Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0179629
- By:
- Publication type:
- Article
Síndrome de opsoclonos mioclonos causado por un neuroblastoma. Informe de un caso.
- Published in:
- Acta Pediatrica de Mexico, 2010, v. 31, n. 1, p. 36
- By:
- Publication type:
- Article
Abnormalities of Masseteric Inhibitory Reflex in Hereditary Geniospasm: Evidence for a Brainstem Myoclonus.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 49, doi. 10.1002/mdc3.12097
- By:
- Publication type:
- Article
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 12, p. 2296, doi. 10.1007/s00415-014-7488-3
- By:
- Publication type:
- Article
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
- Published in:
- Journal of Molecular Medicine, 2011, v. 89, n. 9, p. 915, doi. 10.1007/s00109-011-0758-y
- By:
- Publication type:
- Article
Lafora disease as a cause of visually exacerbated myoclonic attacks in a dog.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1155, doi. 10.1093/brain/awt068
- 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
Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-00986-w
- By:
- Publication type:
- Article