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Last Updated: 03/06/2025
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Found 444 publications
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
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.
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.
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.
Journal: Journal of personalized medicine
Published: December 09, 2022
Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases.
Journal: Nucleic acids research
Published: November 07, 2022
Stroke-like Episodes in Inherited Neurometabolic Disorders.
Journal: Metabolites
Published: August 29, 2022
Myoclonic epilepsy with ragged red fibers syndrome associated with mitochondrial 3302A>G mutation in the MT‑TL1 gene: A case report.
Journal: Experimental and therapeutic medicine
Published: August 02, 2022
Last Updated: 03/06/2025