Leigh Syndrome Latest Advances

Find the Latest Research About Leigh Syndrome

Last Updated: 06/30/2026

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Found 1659 publications

MyD88 deficiency modestly attenuates disease in a Leigh syndrome mouse model while enrofloxacin accelerates disease.

MyD88 deficiency modestly attenuates disease in a Leigh syndrome mouse model while enrofloxacin accelerates disease.

Journal: bioRxiv : the preprint server for biology

Published: May 25, 2026

β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria.

β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria.

Journal: BMJ case reports

Published: May 04, 2026

Cardiac Tamponade After Late Central Venous Catheter Dislodgement in Two Pediatric Patients-A Rare but Potentially Fatal Complication.

Cardiac Tamponade After Late Central Venous Catheter Dislodgement in Two Pediatric Patients-A Rare but Potentially Fatal Complication.

Journal: Children (Basel, Switzerland)

Published: April 29, 2026

Predicting recurrence risk of Leigh syndrome using prenatal mtDNA heteroplasmy assessment.

Predicting recurrence risk of Leigh syndrome using prenatal mtDNA heteroplasmy assessment.

Journal: Mitochondrion

Published: March 09, 2026

Clinical Spectrum, Heteroplasmy-Phenotype Correlation, and Prognosis of the MT-ND3 m.10191 T > C Mutation.

Clinical Spectrum, Heteroplasmy-Phenotype Correlation, and Prognosis of the MT-ND3 m.10191 T > C Mutation.

Journal: CNS neuroscience & therapeutics

Published: February 10, 2026

Genetic regulators of neuronal survival across metabolic environments.

Genetic regulators of neuronal survival across metabolic environments.

Journal: bioRxiv : the preprint server for biology

Published: February 09, 2026

Generation of an iPSC line IUFi004-A-13 with homozygous NDUFS1 mutation for the study of Leigh syndrome.

Generation of an iPSC line IUFi004-A-13 with homozygous NDUFS1 mutation for the study of Leigh syndrome.

Journal: Stem cell research

Published: February 07, 2026

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

Journal: Neuro-ophthalmology (Aeolus Press)

Published: February 05, 2026

Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of the NDUFAF6 gene.

Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of the NDUFAF6 gene.

Journal: Frontiers in neurology

Published: January 21, 2026

New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Deficiency.

New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Deficiency.

Journal: Cureus

Published: January 17, 2026

Generative AI Accelerates Genotype-Phenotype Characterization of a 1600-Case Leigh Syndrome Virtual Cohort from Published Literature.

Generative AI Accelerates Genotype-Phenotype Characterization of a 1600-Case Leigh Syndrome Virtual Cohort from Published Literature.

Journal: Biology

Published: December 27, 2025

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

Journal: Journal of child neurology

Published: December 23, 2025

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Last Updated: 06/30/2026