about
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ InfluxSecondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studiesThe genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care centerClinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern EuropeChildhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutationGRP94 Is Involved in the Lipid Phenotype of Brain Metastatic CellsMutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentHomomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy
P50
Q27301357-9F691E46-9D3C-4253-873A-345F6A833B74Q28118912-200B26AA-4EC9-415B-A972-854E70BD3ABBQ39634938-170E874B-397B-4027-A26F-6ECEADF71987Q64039294-EA1DB426-3AEA-41C9-8935-E5A8482193AFQ64040303-C9606BCE-FC8C-4737-9FA1-5D6F94BC99B5Q64050199-A32C8D88-F8D2-41C6-98A6-012EC5D1AE5AQ91043923-2D8C5379-00D3-4239-BD27-EC0525E46E86Q92508950-15C2E975-E98E-42DD-9043-95286D0990BDQ92725689-17A75C62-460F-46AA-84E5-A01B229F1977Q93384353-C187FDB9-8101-481A-8B65-358D2B9E54BE
P50
description
researcher, ORCID id # 0000-0001-5762-4023
@en
wetenschapper
@nl
name
Anna Marcé-Grau
@ast
Anna Marcé-Grau
@en
Anna Marcé-Grau
@es
Anna Marcé-Grau
@nl
type
label
Anna Marcé-Grau
@ast
Anna Marcé-Grau
@en
Anna Marcé-Grau
@es
Anna Marcé-Grau
@nl
prefLabel
Anna Marcé-Grau
@ast
Anna Marcé-Grau
@en
Anna Marcé-Grau
@es
Anna Marcé-Grau
@nl
P106
P21
P31
P496
0000-0001-5762-4023