Last Updated: 09/26/2026
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Found 30 publications
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease.
Journal: Kidney international reports
Published: March 20, 2026
Phase I Randomized, Placebo-Controlled, Cross-Over Dose-Finding Study of Coenzyme Q10 on Doxorubicin Pharmacokinetics during Breast Cancer Treatment.
Journal: Integrative cancer therapies
Published: November 20, 2025
Rhabdomyolysis due to mtDNA pathogenic variants: Report of a subject with a novel MT-CO3 variant and review of the literature.
Journal: Molecular genetics and metabolism
Published: July 27, 2025
Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.
Journal: European journal of medical genetics
Published: November 13, 2023
Relationships of mitochondrial DNA mutations and select clinical diagnoses in perinatally HIV- and ART-exposed uninfected children.
Journal: Mitochondrion
Published: September 03, 2023
Genetic Testing of HTT Modifiers for Huntington's Disease: Considerations for Clinical Guidelines.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 11, 2023
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Journal: Scientific reports
Published: February 16, 2022
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
Journal: Cold Spring Harbor molecular case studies
Published: December 08, 2021
Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.
Journal: Case reports in genetics
Published: March 04, 2021
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Journal: Orphanet journal of rare diseases
Published: June 04, 2020
Detection of mitochondrial DNA (mtDNA) mutations.
Journal: Methods in cell biology
Published: March 19, 2020
Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.
Journal: Journal of genetic counseling
Published: March 14, 2020
Last Updated: 09/26/2026