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Lista de obras de Anna Marcé-Grau

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+ Influx

scientific journal article

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

artículo científico publicado en 2021

Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation

scientific article published on 08 January 2019

Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe

scientific article published on 17 June 2014

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

artículo científico publicado en 2016

GRP94 Is Involved in the Lipid Phenotype of Brain Metastatic Cells

scientific article published on 09 August 2019

Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies

article

Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy

scientific article published on 26 November 2018

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

artículo científico publicado en 2020

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

artículo científico publicado en 2019

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

artículo científico publicado en 2016

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

scientific article published on 14 February 2019

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