About: Gabrielle Rudolf

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researcher

Attributes	Values
rdf:type	Item
description	forskare (sv) researcher (en) 연구원 (ko) গবেষক (bn) 研究者 (ja) araştırmacı (tr) wetenschapper (nl) дослідниця (uk) वैज्ञानिक (hi) изилдөөчү (ky) 研究者 (zh) հետազոտող (hy) hulumtuese (sq)
rdfs:label	Gabrielle Rudolf (en) Gabrielle Rudolf (es) Gabrielle Rudolf (nl) Gabrielle Rudolf (sl) Gabrielle Rudolf (ast)
skos:prefLabel	Gabrielle Rudolf (en) Gabrielle Rudolf (es) Gabrielle Rudolf (nl) Gabrielle Rudolf (sl) Gabrielle Rudolf (ast)
name	Gabrielle Rudolf (en) Gabrielle Rudolf (es) Gabrielle Rudolf (nl) Gabrielle Rudolf (sl) Gabrielle Rudolf (ast)
Scopus author ID	wds:Q42655821-8B6C6E17-4AC8-40BD-B26C-683DD75C5A71
Scopus author ID	7102815687
given name	wds:Q42655821-CE3F9B6E-22E3-4E4E-91B6-61CC99EED642
given name	Gabrielle
instance of	wds:Q42655821-EA212B4B-5950-4D48-8768-8F2694BA086A
instance of	Homo sapiens
occupation	wds:Q42655821-EE8A4BAF-3476-4FC6-9F56-EB45603FF971
employer	wds:Q42655821-2C37749D-F255-453F-9CFC-05096B0DD764
sex or gender	wds:Q42655821-EBDC9305-17AE-43B8-B386-18510CD7EDB7
VIAF ID	wds:Q42655821-FF8D981C-C46D-4DAE-9E0C-38FC7AB40579
IdRef ID	wds:Q42655821-58A6F8BC-B470-44A7-9728-EBC5A35A6727
family name	wds:q42655821-893a899d-4893-72f5-53cb-82ec274175ab
VIAF ID	http://viaf.org/viaf/313559663
IdRef ID	http://www.idref.fr/169318176/id
occupation	researcher
employer	Institute of Genetics and Molecular and Cellular Biology
sex or gender	female organism
VIAF ID	313559663
IdRef ID	169318176
family name	Rudolf
ORCID iD	wds:Q42655821-51DFF700-5BCB-47CD-AC09-4EEF74172913
ORCID iD	https://orcid.org/0000-0002-2050-3911
ORCID iD	0000-0002-2050-3911
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q42655821
is author of	Anti-MOG antibodies are present in a subgroup of patients with a neuromyelitis optica phenotype GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Mutations of DEPDC5 cause autosomal dominant focal epilepsies Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex SRPX2 mutations in disorders of language cortex and cognition A conserved sorting-associated protein is mutant in chorea-acanthocytosis Is neuromyelitis optica associated with human leukocyte antigen? Exploration of the genetic architecture of idiopathic generalized epilepsies. Electrophysiological evidence of persisting unilateral auditory cortex dysfunction in the late outcome of Landau and Kleffner syndrome. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease Vigabatrin, the GABA-transaminase inhibitor, damages cone photoreceptors in rats Pentylenetetrazol-induced status epilepticus up-regulates the expression of glucose transporter mRNAs but not proteins in the immature rat brain. Evaluation of clinical interest of anti-aquaporin-4 autoantibody followup in neuromyelitis optica Landau-Kleffner syndrome is not an eponymic badge of ignorance. From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors. Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13 PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero. Blood Cell Palmitoleate-Palmitate Ratio Is an Independent Prognostic Factor for Amyotrophic Lateral Sclerosis XPR1 mutations are a rare cause of primary familial brain calcification. Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. Unexpected combination of inherited chorea-acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease Serum analysis by 1H Nuclear Magnetic Resonance spectroscopy: a new tool for distinguishing neuromyelitis optica from multiple sclerosis Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia On cholinergic mechanisms in the optokinetic nystagmus of the frog: antagonistic effects of muscarinic and nicotinic systems. Isolated paroxysmal arousals as focal epilepsy. Language-induced epilepsy, acquired stuttering, and idiopathic generalized epilepsy: phenotypic study of one family. Idiopathic focal epilepsies: the "lost tribe". Delayed-onset Friedreich's ataxia revisited Mutations of the orexin system, a regulator of sleep arousal, are not a common cause of ADNFLE. Galanin pathogenic mutations in temporal lobe epilepsy Acute blockade of dopamine receptors with haloperidol: A retinal model to study impairments of dopaminergic transmission Light and dark induced variations of the c-wave voltage of the chicken eye after treatment with sodium aspartate Electrooculographic study in the chicken after treatment with neurotoxin 6-hydroxydopamine Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work The landscape of epilepsy-related GATOR1 variants Cerebral correlates of hemispheric lateralization during a pitch discrimination task: an ERP study in dichotic situation Loss-of-function mutations in NR4A2 cause dopa-responsive dystonia Parkinsonism GRIN2A-related disorders: genotype and functional consequence predict phenotype Polygenic Control of Idiopathic Generalized Epilepsy Phenotypes in the Genetic Absence Rats from Strasbourg (GAERS) Correction to: The landscape of epilepsy-related GATOR1 variants Correction: The landscape of epilepsy-related GATOR1 variants

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