Sara Seneca

Brussels, BRU, Belgium

Last Updated: 09/26/2026

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Found 65 publications

Progressive Visual Recovery in a Patient with Leber Hereditary Optic Neuropathy Harboring a Rare Heteroplasmic (MT-ND5):m.13042G>A, p(Ala236Thr) Variant with Low Mutant Load: A Case Report.

Progressive Visual Recovery in a Patient with Leber Hereditary Optic Neuropathy Harboring a Rare Heteroplasmic (MT-ND5):m.13042G>A, p(Ala236Thr) Variant with Low Mutant Load: A Case Report.

Journal: Case reports in ophthalmology

Published: December 31, 2025

The first population scale compendium of complete mitochondrial genomes from Flanders, Belgium.

The first population scale compendium of complete mitochondrial genomes from Flanders, Belgium.

Journal: Forensic science international. Genetics

Published: July 02, 2025

Diagnostic Performance of Commercial Antithrombin Activity Assays: Do We Get What We Expect?

Diagnostic Performance of Commercial Antithrombin Activity Assays: Do We Get What We Expect?

Journal: Thrombosis and haemostasis

Published: June 05, 2025

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

Journal: Brain : a journal of neurology

Published: October 27, 2024

Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism.

Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism.

Journal: Genes & diseases

Published: August 28, 2024

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

Journal: Pediatric neurology

Published: March 10, 2024

Vacuolar-type H+-ATPase-mediated extra-organellar buffering resolves mitochondrial dysfunction.

Vacuolar-type H+-ATPase-mediated extra-organellar buffering resolves mitochondrial dysfunction.

Journal: Nature communications

Published: February 23, 2024

Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers.

Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers.

Journal: BMC cancer

Published: June 20, 2023

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Journal: Brain : a journal of neurology

Published: April 21, 2023

Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.

Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.

Journal: Nature communications

Published: December 10, 2022

Primary ovarian insufficiency in RMND1 mitochondrial disease.

Primary ovarian insufficiency in RMND1 mitochondrial disease.

Journal: Mitochondrion

Published: February 17, 2022

EDIR: exome database of interspersed repeats.

EDIR: exome database of interspersed repeats.

Journal: Bioinformatics (Oxford, England)

Published: February 03, 2022

Showing 1-12 of 65

Last Updated: 09/26/2026