Àngels García‐Cazorla

Author

Hospital Sant Joan de Déu Barcelona ORCID

Also Known As

A García-Cazorla, A García‐Cazorla, A. Garcia-Cazorla, A. García-Cazorla, A. García-Cazorla, Angels Garcia-Cazorla, Angels Garcia‐Cazorla, Angels García-Cazorla, Angels García‐Cazorla, García-Cazorla A

671

Publications

6.5K

Citations

H-Index

163

Concepts

All Affiliations

Hospital Sant Joan de Déu Barcelona Centre for Biomedical Network Research on Rare Diseases Instituto de Salud Carlos III Universitat de Barcelona Institut de Recerca Sant Joan de Déu

ÀG

About

Àngels García‐Cazorla is an author at Hospital Sant Joan de Déu Barcelona specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	25	49	2.9K
2	Natural Sciences	11	11	388
3	Health Sciences	6	6	242
4	Engineering	3	3	169
5	Public Health	2	2	475

Àngels García‐Cazorla

107

Publications

5.1K

Citations

H-Index

Page 1

	Year	Citations
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature Gillian Rice, Paul R. Kasher, Gabriella Forte, Nature Genetics Autoimmune DiseaseGenetic DisorderGeneticsPathogenesisImmunology	2012	916
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins Aleix Navarro‐Sastre, Frederic Tort, Oliver Stehling, The American Journal of Human Genetics	2011	278
Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains Antonia Alonso, Paloma Merchán, Juan E. Sandoval, Brain Structure and Function Rhombomeric DomainsRaphe NucleiBrain DevelopmentGeneticsNeurotransmitter	2012	114
HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins Aída Ormazábal, Àngels García‐Cazorla, Yolanda Fernández, Journal of Neuroscience Methods Fluorescence Detection ProceduresInborn ErrorsEngineeringBiochemistryMedicine	2004	107
Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects Àngels García‐Cazorla, Daniel Rabier, Guy Touati, Annals of Neurology	2005	97
Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome Sofia Duarte, Judith Armstrong, Ana Roche, PLoS ONE	2013	90
Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes Frederic Tort, Xènia Ferrer-Cortés, Marta Thió, Human Molecular Genetics Genetics2-Ketoacid Dehydrogenase ComplexesMolecular BiologyCofactor DisordersMolecular Genetics	2013	84
MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY Àngels García‐Cazorla, Elizabeth Quadros, A. Nascimento, Neurology	2008	83
Two Novel Mutations in the<i>BCKDK</i>(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients Àngels García‐Cazorla, Alfonso Oyarzábal, Joana Fort, Human Mutation Oral Bcaa SupplementationBrain DevelopmentNeurological DisorderGeneticsDisease Gene Identification	2014	82

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