Progressive External Ophthalmoplegia Latest Advances

Autosomal Dominant TWNK Mutations More Likely Manifest with Multisystem Disease than Isolated External Ophthalmoplegia.

Journal: Internal medicine (Tokyo, Japan)

Published: August 19, 2026

Response to: Autosomal Dominant TWNK Mutations more likely Manifest with Multisystem Disease than Isolated External Ophthalmoplegia.

Journal: Internal medicine (Tokyo, Japan)

Published: August 19, 2026

A de novo TWNK Variant Mimicked Sporadic Chronic Progressive External Ophthalmoplegia.

Journal: Internal medicine (Tokyo, Japan)

Published: June 28, 2026

Mutations Causative of CPEO Differentially Engage Innate Immunity Sensors.

Journal: bioRxiv : the preprint server for biology

Published: June 05, 2026

CMV-Associated Worsening of Neurological Symptoms in Kearns-Sayre Syndrome After Heart Transplantation: A Case Report.

Journal: Transplant infectious disease : an official journal of the Transplantation Society

Published: June 04, 2026

Chronic Progressive External Ophthalmoplegia Associated With the m.14484T>C Leber Hereditary Optic Neuropathy Mutation.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: March 23, 2026

From Ophthalmoplegia to Multilevel Atrioventricular Block: Timing Cardiac Device Therapy in Kearns-Sayre Syndrome.

Journal: JACC. Case reports

Published: March 16, 2026

Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.

Journal: American journal of medical genetics. Part A

Published: March 09, 2026

A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).

Journal: Journal of clinical neuromuscular disease

Published: March 02, 2026

Progressive Conduction Disease in a Mitochondrial Disorder.

Journal: JACC. Case reports

Published: January 16, 2026

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Journal: European journal of medical genetics

Published: January 07, 2026

Expanding the landscape of tRNA pathogenic variants in mitochondrial DNA.

Journal: Brain communications

Published: December 09, 2025

Progressive External Ophthalmoplegia Latest Advances

Find the Latest Research About Progressive External Ophthalmoplegia

Autosomal Dominant TWNK Mutations More Likely Manifest with Multisystem Disease than Isolated External Ophthalmoplegia.

Autosomal Dominant TWNK Mutations More Likely Manifest with Multisystem Disease than Isolated External Ophthalmoplegia.

Response to: Autosomal Dominant TWNK Mutations more likely Manifest with Multisystem Disease than Isolated External Ophthalmoplegia.

Response to: Autosomal Dominant TWNK Mutations more likely Manifest with Multisystem Disease than Isolated External Ophthalmoplegia.

A de novo TWNK Variant Mimicked Sporadic Chronic Progressive External Ophthalmoplegia.

A de novo TWNK Variant Mimicked Sporadic Chronic Progressive External Ophthalmoplegia.

Mutations Causative of CPEO Differentially Engage Innate Immunity Sensors.

Mutations Causative of CPEO Differentially Engage Innate Immunity Sensors.

CMV-Associated Worsening of Neurological Symptoms in Kearns-Sayre Syndrome After Heart Transplantation: A Case Report.

CMV-Associated Worsening of Neurological Symptoms in Kearns-Sayre Syndrome After Heart Transplantation: A Case Report.

Chronic Progressive External Ophthalmoplegia Associated With the m.14484T>C Leber Hereditary Optic Neuropathy Mutation.

Chronic Progressive External Ophthalmoplegia Associated With the m.14484T>C Leber Hereditary Optic Neuropathy Mutation.

From Ophthalmoplegia to Multilevel Atrioventricular Block: Timing Cardiac Device Therapy in Kearns-Sayre Syndrome.

From Ophthalmoplegia to Multilevel Atrioventricular Block: Timing Cardiac Device Therapy in Kearns-Sayre Syndrome.

Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.

Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.

A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).

A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).

Progressive Conduction Disease in a Mitochondrial Disorder.

Progressive Conduction Disease in a Mitochondrial Disorder.

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Expanding the landscape of tRNA pathogenic variants in mitochondrial DNA.

Expanding the landscape of tRNA pathogenic variants in mitochondrial DNA.