Ana Barahona-Rivera
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 8 publications
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 03, 2022
Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.
Journal: Translational research : the journal of laboratory and clinical medicine
Published: September 20, 2019
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
Journal: Molecular genetics and metabolism
Published: August 07, 2018
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.
Journal: Oxidative medicine and cellular longevity
Published: September 29, 2017
Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia.
Journal: Molecular genetics and metabolism
Published: May 23, 2017
Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.
Journal: Scientific reports
Published: March 02, 2017
Role of miRNAs in human disease and inborn errors of metabolism.
Journal: Journal of inherited metabolic disease
Published: December 09, 2016
In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.
Journal: Free radical biology & medicine
Published: March 14, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026