Last Updated: 09/26/2026
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Found 178 publications
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.
Journal: medRxiv : the preprint server for health sciences
Published: June 29, 2026
Use of nucleoside therapy for mitochondrial DNA depletion/deletion syndrome (MDDS).
Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: June 23, 2026
Psychobiological and Metabolic Correlates of Time Perception in Humans: An Exploratory Study.
Journal: Psychophysiology
Published: May 26, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease.
Journal: Kidney international reports
Published: March 20, 2026
4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity.
Journal: bioRxiv : the preprint server for biology
Published: February 23, 2026
Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report.
Journal: American journal of medical genetics. Part A
Published: February 21, 2026
Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency.
Journal: Therapeutic advances in rare disease
Published: January 14, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.
Journal: European journal of neurology
Published: January 10, 2026
Disease burden of untreated thymidine kinase 2 deficiency: insights from a large patient dataset.
Journal: Brain communications
Published: September 15, 2025
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.
Journal: Brain communications
Published: September 15, 2025
Pyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency: A Multicenter Retrospective Chart Review Study.
Journal: Neurology
Published: September 05, 2025
Last Updated: 09/26/2026