Found: 18
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ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
- Published in:
- 2016
- By:
- Publication type:
- letter
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
- Published in:
- Nature Genetics, 2014, v. 46, n. 6, p. 640, doi. 10.1038/ng.2952
- By:
- Publication type:
- Article
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000381
- By:
- Publication type:
- Article
Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.693
- By:
- Publication type:
- Article
Congenital mirror movements: no mutation in DNAL4 in 17 index cases.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Mutations in the netrin-1 gene cause congenital mirror movements.
- Published in:
- Journal of Clinical Investigation, 2017, v. 127, n. 11, p. 3923, doi. 10.1172/JCI95442
- By:
- Publication type:
- Article
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3170, doi. 10.1002/ajmg.a.34334
- By:
- Publication type:
- Article
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
- Published in:
- Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9419
- By:
- Publication type:
- Article
The supplementary motor area modulates interhemispheric interactions during movement preparation.
- Published in:
- Human Brain Mapping, 2019, v. 40, n. 7, p. 2125, doi. 10.1002/hbm.24512
- By:
- Publication type:
- Article
Congenital mirror movements caused by a mutation in the DCC gene.
- Published in:
- Developmental Medicine & Child Neurology, 2015, v. 57, n. 8, p. 776, doi. 10.1111/dmcn.12810
- By:
- Publication type:
- Article
Comment on "Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals".
- Published in:
- Movement Disorders, 2024, v. 39, n. 5, p. 925, doi. 10.1002/mds.29799
- By:
- Publication type:
- Article
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
- Published in:
- Movement Disorders, 2024, v. 39, n. 5, p. 897, doi. 10.1002/mds.29752
- By:
- Publication type:
- Article
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 23, doi. 10.1002/humu.23361
- By:
- Publication type:
- Article
Cover Image, Volume 39, Issue 1.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. i, doi. 10.1002/humu.23372
- By:
- Publication type:
- Article
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. E1959, doi. 10.1002/humu.21373
- By:
- Publication type:
- Article
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
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 10, p. 1820, doi. 10.1111/j.1528-1167.2011.03163.x
- By:
- Publication type:
- Article