Leigh Syndrome Latest Advances

Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: March 02, 2026

Genetic regulators of neuronal survival across metabolic environments.

Journal: bioRxiv : the preprint server for biology

Published: February 09, 2026

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.

Journal: Frontiers in neurology

Published: January 21, 2026

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.

Journal: Biology

Published: December 27, 2025

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

Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders.

Journal: Handbook of experimental pharmacology

Published: December 15, 2025

Leigh Syndrome Pathomechanism Involves Region-Specific Innate Immune Activation in Ndufs4 Knockout Mice.

Journal: Cellular and molecular neurobiology

Published: December 05, 2025

Capillary Leak Syndrome and Inflammatory Bowel Diseases Like-Symptoms in Leigh Syndrome.

Journal: The Tohoku journal of experimental medicine

Published: December 03, 2025

Remimazolam-based anesthesia with intraoperative motor evoked potential monitoring in a patient with Leigh syndrome undergoing scoliosis surgery: a case report.

Journal: JA clinical reports

Published: November 26, 2025

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

Journal: Journal of neuromuscular diseases

Published: November 12, 2025

Leigh Syndrome Latest Advances

Find the Latest Research About Leigh Syndrome

Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review

Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review

Genetic regulators of neuronal survival across metabolic environments.

Genetic regulators of neuronal survival across metabolic environments.

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.

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.

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

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

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.

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.

Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders.

Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders.

Leigh Syndrome Pathomechanism Involves Region-Specific Innate Immune Activation in Ndufs4 Knockout Mice.

Leigh Syndrome Pathomechanism Involves Region-Specific Innate Immune Activation in Ndufs4 Knockout Mice.

Capillary Leak Syndrome and Inflammatory Bowel Diseases Like-Symptoms in Leigh Syndrome.

Capillary Leak Syndrome and Inflammatory Bowel Diseases Like-Symptoms in Leigh Syndrome.

Remimazolam-based anesthesia with intraoperative motor evoked potential monitoring in a patient with Leigh syndrome undergoing scoliosis surgery: a case report.

Remimazolam-based anesthesia with intraoperative motor evoked potential monitoring in a patient with Leigh syndrome undergoing scoliosis surgery: a case report.

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.