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 449 publications

Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.

Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.

Journal: Neuromuscular disorders : NMD
Published: June 27, 2025

A Review of the Advances in the Medical Management of Epilepsy Associated With Myoclonic Epilepsy With Ragged-Red Fibers (MERRF) Syndrome.

A Review of the Advances in the Medical Management of Epilepsy Associated With Myoclonic Epilepsy With Ragged-Red Fibers (MERRF) Syndrome.

Journal: Cureus
Published: April 23, 2025

In vitro modelling of the neuropathophysiological features of mitochondrial epilepsy.

In vitro modelling of the neuropathophysiological features of mitochondrial epilepsy.

Journal: Seizure
Published: April 09, 2025

Peptide-mimetics derived from leucyl-tRNA synthetase are potential agents for the therapy of mt-tRNA related diseases.

Peptide-mimetics derived from leucyl-tRNA synthetase are potential agents for the therapy of mt-tRNA related diseases.

Journal: Frontiers in pharmacology
Published: April 07, 2025

Successful application of vagus nerve stimulation in super refractory status epilepticus associated with MERRF syndrome.

Successful application of vagus nerve stimulation in super refractory status epilepticus associated with MERRF syndrome.

Journal: Epilepsy & behavior reports
Published: February 22, 2025

Clinical characteristics of children with MT-TK gene m.8344A>G variation

Clinical characteristics of children with MT-TK gene m.8344A>G variation

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: October 21, 2024

LNC-ing Genetics in Mitochondrial Disease.

LNC-ing Genetics in Mitochondrial Disease.

Journal: Non-coding RNA
Published: September 27, 2024

Myoclonic Epilepsy With Ragged Red Fiber Cardiomyopathy: A Case Report and Brief Review of Literature.

Myoclonic Epilepsy With Ragged Red Fiber Cardiomyopathy: A Case Report and Brief Review of Literature.

Journal: Cureus
Published: August 09, 2024

Endocrine Challenges in Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.

Endocrine Challenges in Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.

Journal: Cureus
Published: December 26, 2023

Mitochondrial impairment and synaptic dysfunction are associated with neurological defects in iPSCs-derived cortical neurons of MERRF patients.

Mitochondrial impairment and synaptic dysfunction are associated with neurological defects in iPSCs-derived cortical neurons of MERRF patients.

Journal: Journal of biomedical science
Published: April 25, 2023

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review.

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review.

Journal: Life (Basel, Switzerland)
Published: January 03, 2023

MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization.

MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization.

Journal: Journal of personalized medicine
Published: December 09, 2022
Showing 1-12 of 449

Last Updated: 10/31/2025