Mitochondrial Complex 1 Deficiency Latest Advances
Find the Latest Research About Mitochondrial Complex 1 Deficiency
Last Updated: 06/30/2026
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Found 370 publications
The Hidden Culprit in Optic Neuritis: Mitochondrial Complex I Deficiency Due to a Novel NDUFS1 Mutation.
Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: May 27, 2026
Novel NDUFV1 variant in progressive cavitating leukodystrophy with microcephaly: a case report.
Journal: BMC pediatrics
Published: February 12, 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
Cell-Intrinsic Vulnerability and Immune Activation Cooperate to Drive Degeneration in a Mitochondrial Complex I Deficiency Model of Optic Neuropathy.
Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025
An Atypical Neurosensory-Predominant Presentation Associated with a Homozygous NDUFS3 Variant: A Diagnostic Challenge Involving Retinal and Hearing Phenotypes.
Journal: Molecular syndromology
Published: November 18, 2025
Identifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss.
Journal: Journal of family & community medicine
Published: November 01, 2025
Region-Specific Quantification of 2-Hydroxyglutarate Enantiomers in Murine Brain during Mitochondrial Complex I Deficiency.
Journal: ACS chemical neuroscience
Published: October 16, 2025
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.
Journal: American journal of human genetics
Published: October 09, 2025
Expanding the Clinical Spectrum of SCN8A-Related Epileptic Encephalopathy: Additional Auditory Impairment, Atypical MRI Abnormalities and Putative Mitochondrial Involvement.
Journal: Journal of molecular neuroscience : MN
Published: October 09, 2025
Cell-intrinsic vulnerability and immune activation cooperate to drive degeneration in a mitochondrial complex I deficiency model of optic neuropathy.
Journal: Journal of neuroinflammation
Published: October 08, 2025
Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology.
Journal: Clinical genetics
Published: August 11, 2025
Last Updated: 06/30/2026