Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 10/31/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 1640 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

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

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 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

Recurrent Syncope and Drooping Eyes in a Young Woman: Kearns-Sayre Syndrome.

Recurrent Syncope and Drooping Eyes in a Young Woman: Kearns-Sayre Syndrome.

Journal: JACC. Clinical electrophysiology
Published: May 27, 2025

Expanding the Genetic and Phenotypic Spectrum of Kearns-Sayre Syndrome: A Case Report.

Expanding the Genetic and Phenotypic Spectrum of Kearns-Sayre Syndrome: A Case Report.

Journal: Cureus
Published: May 17, 2025

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

Journal: Molecular genetics and metabolism
Published: May 16, 2025
Showing 1-12 of 1,640

Last Updated: 10/31/2025