about
Anti-MOG antibodies are present in a subgroup of patients with a neuromyelitis optica phenotypeA conserved sorting-associated protein is mutant in chorea-acanthocytosisGalanin pathogenic mutations in temporal lobe epilepsyBlood Cell Palmitoleate-Palmitate Ratio Is an Independent Prognostic Factor for Amyotrophic Lateral SclerosisInfantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex.SRPX2 mutations in disorders of language cortex and cognition.Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraineLandau-Kleffner syndrome is not an eponymic badge of ignorance.Mutations of DEPDC5 cause autosomal dominant focal epilepsiesMutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.Epileptic encephalopathy with continuous spike-waves during sleep: the need for transition from childhood to adulthood medical care appears to be related to etiology.Idiopathic focal epilepsies: the "lost tribe".Vigabatrin, the GABA-transaminase inhibitor, damages cone photoreceptors in rats.GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.XPR1 mutations are a rare cause of primary familial brain calcification.No evidence for genetic association between glutamate transporter EAAT2 and Devic's neuromyelitis optica in caucasians and afro-caribbeans.Effects of intravitreal and intravenous administrations of dopamine on the standing potential and the light peak in the intact chicken eye.Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis.Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.EOG and ERG modifications induced in the chicken eye after blockade of catecholamine and 5-hydroxytryptamine biosynthesis.Is neuromyelitis optica associated with human leukocyte antigen?De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.Cerebral correlates of hemispheric lateralization during a pitch discrimination task: an ERP study in dichotic situation.Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.Pentylenetetrazol-induced status epilepticus up-regulates the expression of glucose transporter mRNAs but not proteins in the immature rat brain.Acquired epileptic opercular syndrome related to a heterozygous deleterious substitution in GRIN2A.On cholinergic mechanisms in the optokinetic nystagmus of the frog: antagonistic effects of muscarinic and nicotinic systems.Mutations of the orexin system, a regulator of sleep arousal, are not a common cause of ADNFLE.From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors.Language-induced epilepsy, acquired stuttering, and idiopathic generalized epilepsy: phenotypic study of one family.Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy.
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Gabrielle Rudolf
@ast
Gabrielle Rudolf
@en
Gabrielle Rudolf
@es
Gabrielle Rudolf
@nl
Gabrielle Rudolf
@sl
type
label
Gabrielle Rudolf
@ast
Gabrielle Rudolf
@en
Gabrielle Rudolf
@es
Gabrielle Rudolf
@nl
Gabrielle Rudolf
@sl
prefLabel
Gabrielle Rudolf
@ast
Gabrielle Rudolf
@en
Gabrielle Rudolf
@es
Gabrielle Rudolf
@nl
Gabrielle Rudolf
@sl
P106
P1153
7102815687
P21
P31
P496
0000-0002-2050-3911