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Last Updated: 10/31/2025

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Found 1613 publications

Severe Chemoradiotherapy Toxicity in a Pediatric Patient with Leigh Syndrome and Grade IV Isocitrate Dehydrogenase-Mutant Astrocytoma: A Case Report.

Severe Chemoradiotherapy Toxicity in a Pediatric Patient with Leigh Syndrome and Grade IV Isocitrate Dehydrogenase-Mutant Astrocytoma: A Case Report.

Journal: The American journal of case reports
Published: October 20, 2025

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: September 25, 2025

Clinical characteristics analysis of mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with ECHS1 gene c.489G>A compound heterozygous variants

Clinical characteristics analysis of mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with ECHS1 gene c.489G>A compound heterozygous variants

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: September 17, 2025

Reply: "Leigh Syndrome Due to the Variant c.1019T>C in COX15".

Reply: "Leigh Syndrome Due to the Variant c.1019T>C in COX15".

Journal: Movement disorders clinical practice
Published: September 15, 2025

Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria.

Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: August 26, 2025

Primary cortical neurons precipitate and extrude large mitochondria-associated calcium-phosphate sheets with a bone-precursor-like ultrastructure.

Primary cortical neurons precipitate and extrude large mitochondria-associated calcium-phosphate sheets with a bone-precursor-like ultrastructure.

Journal: bioRxiv : the preprint server for biology
Published: August 13, 2025

Leigh Syndrome Due to the Variant c.1019T>C in COX15.

Leigh Syndrome Due to the Variant c.1019T>C in COX15.

Journal: Movement disorders clinical practice
Published: August 12, 2025

ndufs2 -/- zebrafish have impaired survival, neuromuscular activity, morphology, and one-carbon metabolism treatable with folic acid.

ndufs2 -/- zebrafish have impaired survival, neuromuscular activity, morphology, and one-carbon metabolism treatable with folic acid.

Journal: bioRxiv : the preprint server for biology
Published: August 12, 2025

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Journal: medRxiv : the preprint server for health sciences
Published: August 12, 2025

Semaglutide and the pathogenesis of progressive neurodegenerative disease: the central role of mitochondria.

Semaglutide and the pathogenesis of progressive neurodegenerative disease: the central role of mitochondria.

Journal: Frontiers in neuroendocrinology
Published: August 11, 2025

Multiplexed quantum sensing reveals coordinated thermomagnetic regulation of mitochondria.

Multiplexed quantum sensing reveals coordinated thermomagnetic regulation of mitochondria.

Journal: bioRxiv : the preprint server for biology
Published: August 06, 2025

Respiratory complex III2 assembles complex I via toxic intermediate in mitochondrial disease.

Respiratory complex III2 assembles complex I via toxic intermediate in mitochondrial disease.

Journal: bioRxiv : the preprint server for biology
Published: July 16, 2025
Showing 1-12 of 1,613

Last Updated: 10/31/2025