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Last Updated: 01/07/2026

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Found 1642 publications

Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing.

Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing.

Journal: Neurology
Published: October 17, 2025

Choroidal neovascularization in a teenager with Kearns Sayre syndrome.

Choroidal neovascularization in a teenager with Kearns Sayre syndrome.

Journal: Ophthalmic genetics
Published: October 14, 2025

Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia.

Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia.

Journal: International journal of molecular sciences
Published: October 14, 2025

Synergistic Convergence in Horizontal Gaze Palsy With Progressive Scoliosis: A Case Report.

Synergistic Convergence in Horizontal Gaze Palsy With Progressive Scoliosis: A Case Report.

Journal: Journal of pediatric ophthalmology and strabismus
Published: September 26, 2025

Anti-Hyperpigmentation-Related Potential Activities in B16BL6 Cells and Chemical Composition of Essential Oil from Chamaecyparis pisifera Leaves.

Anti-Hyperpigmentation-Related Potential Activities in B16BL6 Cells and Chemical Composition of Essential Oil from Chamaecyparis pisifera Leaves.

Journal: Pharmaceutics
Published: September 24, 2025

Crucial Role of Early Detection in Managing Heart Failure in Kearns-Sayre Syndrome: A Case Report.

Crucial Role of Early Detection in Managing Heart Failure in Kearns-Sayre Syndrome: A Case Report.

Journal: The American journal of case reports
Published: August 18, 2025

The Neuro-Ophthalmologic Manifestations of SPG7-Associated Disease.

The Neuro-Ophthalmologic Manifestations of SPG7-Associated Disease.

Journal: Journal of personalized medicine
Published: August 14, 2025

The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.

The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.

Journal: Biomolecules
Published: August 12, 2025

Genotype-Phenotype Correlations in Chinese Pediatric Patients With Single Large-Scale Mitochondrial DNA Deletion Disorders.

Genotype-Phenotype Correlations in Chinese Pediatric Patients With Single Large-Scale Mitochondrial DNA Deletion Disorders.

Journal: Clinical genetics
Published: August 01, 2025

Mitochondrial Disorder: Kearns-Sayre Syndrome.

Mitochondrial Disorder: Kearns-Sayre Syndrome.

Journal: Advances in experimental medicine and biology
Published: July 30, 2025

Mitophagy modulation rescues single large-scale mitochondrial DNA deletion (SLSMD) disease symptoms in the C. elegans uaDf5 animal model.

Mitophagy modulation rescues single large-scale mitochondrial DNA deletion (SLSMD) disease symptoms in the C. elegans uaDf5 animal model.

Journal: bioRxiv : the preprint server for biology
Published: July 22, 2025

Comprehensive basic and clinical studies are needed to improve the treatment and outcome of patients with Kearns-Sayre syndrome.

Comprehensive basic and clinical studies are needed to improve the treatment and outcome of patients with Kearns-Sayre syndrome.

Journal: Translational pediatrics
Published: June 23, 2025
Showing 1-12 of 1,642

Last Updated: 01/07/2026