Monika Olahova

Newcastle Upon Tyne, ENG NE24HH, United Kingdom

Last Updated: 09/26/2026

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Found 40 publications

Pathogenic DRP1 variants reveal a role for biomolecular condensation in mitochondrial fission.

Pathogenic DRP1 variants reveal a role for biomolecular condensation in mitochondrial fission.

Journal: bioRxiv : the preprint server for biology

Published: July 17, 2026

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 13, 2025

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.

Journal: Clinical genetics

Published: April 04, 2025

RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis.

RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis.

Journal: The EMBO journal

Published: November 03, 2024

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Journal: medRxiv : the preprint server for health sciences

Published: October 17, 2024

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Journal: American journal of human genetics

Published: October 09, 2024

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Journal: medRxiv : the preprint server for health sciences

Published: October 07, 2024

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Journal: American journal of human genetics

Published: July 28, 2024

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Journal: EMBO molecular medicine

Published: April 05, 2024

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Journal: European journal of human genetics : EJHG

Published: April 21, 2023

Mitochondrial signalling and homeostasis: from cell biology to neurological disease.

Mitochondrial signalling and homeostasis: from cell biology to neurological disease.

Journal: Trends in neurosciences

Published: August 30, 2022

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.

Journal: Cells

Published: August 18, 2022

Showing 1-12 of 40

Last Updated: 09/26/2026