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Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsyMutations in EFHC1 cause juvenile myoclonic epilepsyRecent developments in the quest for myoclonic epilepsy genes.DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.TGFBR2 mutation and MTHFR-C677T polymorphism in a Mexican mestizo population with cervico-cerebral artery dissection.High-dose versus low-dose valproate for the treatment of juvenile myoclonic epilepsy: Going from low to high.MTHFR C677T, FII G20210A, FV Leiden G1691A, NOS3 intron 4 VNTR, and APOE epsilon4 gene polymorphisms are not associated with spontaneous cervical artery dissection.Homocysteine-induced brain lipid peroxidation: effects of NMDA receptor blockade, antioxidant treatment, and nitric oxide synthase inhibition.EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.Selenium reduces the proapoptotic signaling associated to NF-kappaB pathway and stimulates glutathione peroxidase activity during excitotoxic damage produced by quinolinate in rat corpus striatum.Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.Late onset Lafora disease and novel EPM2A mutations: Breaking paradigms[Frequency of apolipoprotein E in a Nahua population]Prevalence of acute intermittent porphyria in a Mexican psychiatric population[Juvenile myoclonic epilepsy in chromosome 6p12: clinical and genetic advances]Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic featuresFamilial juvenile myoclonic epilepsyLow diagnostic accuracy of fragile X tremor/ataxia syndrome diagnostic criteria in late onset ataxia
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description
hulumtues
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researcher
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հետազոտող
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name
Aurelio Jara-Prado
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Aurelio Jara-Prado
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Aurelio Jara-Prado
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Aurelio Jara-Prado
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Aurelio Jara-Prado
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type
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Aurelio Jara-Prado
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Aurelio Jara-Prado
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Aurelio Jara-Prado
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Aurelio Jara-Prado
@nl
Aurelio Jara-Prado
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prefLabel
Aurelio Jara-Prado
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Aurelio Jara-Prado
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Aurelio Jara-Prado
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Aurelio Jara-Prado
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Aurelio Jara-Prado
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P21
P31
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0000-0001-8985-3744