Sonia Emperador

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 43 publications

The impact of interactive digital tools on genetics education: a field study across large and small learning groups.

The impact of interactive digital tools on genetics education: a field study across large and small learning groups.

Journal: BMC medical education

Published: January 05, 2026

Effects of Tributyltin Chloride on Human Neuronal Differentiation and Mice Brain Development.

Effects of Tributyltin Chloride on Human Neuronal Differentiation and Mice Brain Development.

Journal: Environmental toxicology

Published: May 08, 2025

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.

Journal: Orphanet journal of rare diseases

Published: October 29, 2023

Pathological Features in Paediatric Patients with TK2 Deficiency.

Pathological Features in Paediatric Patients with TK2 Deficiency.

Journal: International journal of molecular sciences

Published: August 12, 2022

Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

Journal: Orphanet journal of rare diseases

Published: March 10, 2022

Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.

Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.

Journal: Clinical genetics

Published: January 20, 2022

Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene.

Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene.

Journal: Stem cell research

Published: October 19, 2021

Human Mitochondrial DNA: Particularities and Diseases.

Human Mitochondrial DNA: Particularities and Diseases.

Journal: Biomedicines

Published: September 02, 2021

Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.

Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.

Journal: Disease models & mechanisms

Published: April 28, 2021

Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy.

Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy.

Journal: Mutation research. Reviews in mutation research

Published: March 22, 2020

Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome.

Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome.

Journal: International journal of molecular sciences

Published: March 18, 2020

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.

Journal: Clinical genetics

Published: November 25, 2019

Showing 1-12 of 43

Last Updated: 09/26/2026