Caterina Terrile
Neuherberg, BY, Germany
Last Updated: 09/26/2026
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Found 12 publications
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Journal: Genome medicine
Published: May 17, 2021
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.
Journal: Orphanet journal of rare diseases
Published: June 14, 2019
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.
Journal: JIMD reports
Published: December 21, 2017
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Journal: American journal of human genetics
Published: December 11, 2017
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: March 31, 2017
Assessing Mitochondrial Bioenergetics in Isolated Mitochondria from Various Mouse Tissues Using Seahorse XF96 Analyzer.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: March 10, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Journal: Nature communications
Published: December 29, 2016
Genetic cause and prevalence of hydroxyprolinemia.
Journal: Journal of inherited metabolic disease
Published: February 10, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Journal: American journal of human genetics
Published: January 22, 2016
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Journal: Journal of inherited metabolic disease
Published: July 28, 2015
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
Journal: Brain : a journal of neurology
Published: May 21, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Journal: American journal of human genetics
Published: January 02, 2015
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Last Updated: 09/26/2026