Found: 10
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A new case of idiopathic hemiplegia hemiconvulsion syndrome.
- Published in:
- Neurological Sciences, 2010, v. 31, n. 6, p. 799, doi. 10.1007/s10072-010-0286-5
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- Article
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.
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- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 40, doi. 10.1186/1750-1172-6-40
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- Article
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.
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- Metabolic Brain Disease, 2018, v. 33, n. 1, p. 261, doi. 10.1007/s11011-017-0150-x
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- Article
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 10, p. 958, doi. 10.1111/j.1469-8749.2011.03993.x
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- Article
Prospective study on long-term treatment with oxcarbazepine in pediatric epilepsy.
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- Journal of Neurology, 2009, v. 256, n. 9, p. 1527, doi. 10.1007/s00415-009-5157-8
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- Publication type:
- Article
Diverse faces of GNAO1: mild forms in epilepsy and autism.
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- Journal of Neurology, 2024, v. 271, n. 7, p. 3777, doi. 10.1007/s00415-024-12418-w
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- Publication type:
- Article
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3607, doi. 10.1093/hmg/ddu070
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- Publication type:
- Article
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0164-1
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- Article
Case Report of Pyruvate Dehydrogenase Deficiency With Unusual Increase of Fats During Ketogenic Diet Treatment.
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- 2012
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- Publication type:
- Case Study
No Kinetic Interaction Between Levetiracetam and Cyclosporine: A Case Report.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 4, p. 440, doi. 10.1177/0883073807301920
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- Publication type:
- Article