Ángeles García‐Cazorla

Author

Centre for Biomedical Network Research on Rare Diseases

Also Known As

A. Garcia-Cazorla, A. Garcia‐Cazorla, A. García-Cazorla, A. García‐Cazorla, Angeles Garcia-Cazorla, Angeles Garcia-Cazorla (850038), Angeles Garcia‐Cazorla, Angeles García-Cazorla, Angeles García‐Cazorla, Francesco Porta

Publications

2.8K

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Hospital Sant Joan de Déu Barcelona Instituto de Salud Carlos III Heidelberg University University Hospital Heidelberg

ÁG

About

Ángeles García‐Cazorla is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	308
2	Health Sciences	1	1	17
3	Social Sciences	1	1	82
4	Biochemistry	1	1	17
5	Cell Biology	1	1	12

Ángeles García‐Cazorla

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Journal of Medical Genetics	2015	293
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction Raquel Montero, Dèlia Yubero, Joan Villarroya, PLoS ONE	2016	172
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice Luís C. López, Hasan O. Akman, Ángeles García‐Cazorla, Human Molecular Genetics	2008	135
Clinical and molecular genetic features of ARC syndrome Paul Gissen, Louise Tee, Colin A. Johnson, Human Genetics Arc SyndromeMendelian DisorderGenetic DisorderGeneticsGenetic Epidemiology	2006	127
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance Hasan O. Akman, Beatriz Dorado, Luís C. López, Human Molecular Genetics	2008	119
Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero, Brain	2021	111
<scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients Toni S. Pearson, Laura Gilbert, Thomas Opladen, Journal of Inherited Metabolic Disease NeuropsychologyMotor ImpairmentMotor DevelopmentSleep DisturbanceNeuropsychiatry	2020	82
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders Roland Posset, Ángeles García‐Cazorla, Vassili Valayannopoulos, Journal of Inherited Metabolic Disease	2016	74
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians Jean‐Marie Saudubray, Fanny Mochel, Foudil Lamari, Journal of Inherited Metabolic Disease	2019	71
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders Roland Posset, Andrea Gropman, Sandesh C.S. Nagamani, Annals of Neurology	2019	67

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