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Last Updated: 10/31/2025
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Found 357 publications
Region-Specific Quantification of 2-Hydroxyglutarate Enantiomers in Murine Brain during Mitochondrial Complex I Deficiency.
Journal: ACS chemical neuroscience
Published: October 16, 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
NDUFV1 mutation presenting as isolated progressive optic neuropathy: a unique manifestation of mitochondrial complex I deficiency.
Journal: BMJ case reports
Published: July 18, 2025
Neuromuscular pathology and mitochondrial dysfunction in sorbitol dehydrogenase gene-related distal hereditary motor neuropathies.
Journal: Journal of neuropathology and experimental neurology
Published: June 28, 2025
Mutation of NDUFAF2 Linked to Mitochondrial Complex I Deficiency.
Journal: Cureus
Published: June 23, 2025
Immuhistochemically-confirmed mitochondrial cardiomyopathy presenting as a conduction system hamartoma: A case report.
Journal: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
Published: June 17, 2025
A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.
Journal: International journal of molecular sciences
Published: June 13, 2025
NDUFAF2 gene mutation presenting as primary pulmonary hypertension: a case report
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: June 04, 2025
Mitochondrial complex I deficiency induces Alzheimer's disease-like signatures that are reversible by targeted therapy.
Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association
Published: May 15, 2025
McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.
McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.
Journal: Neuromuscular disorders : NMD
Published: March 28, 2025
Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.
Journal: Brain communications
Published: January 28, 2025
When the Expected Scenario Did Not Occur: A Novel NDUFA12 Mutation Resembling Neuromyelitis Optica Spectrum Disorder.
Journal: Journal of child neurology
Published: January 17, 2025
Last Updated: 10/31/2025