North-West University
22 imported, source-linked research records. All imported publication dates.
22 matching research records
Topic: Mitochondrial DNA mutations. Only records linked to North-West University are included. Historical ingestion is still running; these are imported records, not a count of all research worldwide.
Showing 1–22 of 22 matching records. Counts update as records arrive.
Cross-species urinary metabolomics identifies 2-hydroxyisovalerate as a candidate biomarker for mtDNA-based disorders
August 20, 2026 · 0 citations · Open access
Open original record →Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups
July 1, 2025 · 3 citations · Open access
Open original record →Type‐Specific Single‐Neuron Analysis Reveals Mitochondrial DNA Maintenance Failure Affecting Atrophying Pontine Neurons Differentially in Lewy Body Dementia Syndromes
June 6, 2025 · 2 citations · Open access
Open original record →Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
August 2, 2024 · 2 citations · Open access
Open original record →A novel mitochondrial DNA variant in MT-ND6: m.14430A C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency
March 29, 2024 · 1 citations · Open access
Open original record →Our current understanding of the toxicity of altered mito-ribosomal fidelity during mitochondrial protein synthesis: What can it tell us about human disease?
June 30, 2023 · 6 citations · Open access
Open original record →Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness
June 8, 2023 · 5 citations · Open access
Open original record →Mitochondrial DNA population variation is not associated with Alzheimer’s in the Japanese population: A consistent finding across global populations
October 20, 2022 · 3 citations · Open access
Open original record →Mitochondrial DNA variation in Parkinson’s disease: Analysis of “out-of-place” population variants as a risk factor
July 14, 2022 · 18 citations · Open access
Open original record →Sub-Cellular Metabolomics Contributes Mitochondria-Specific Metabolic Insights to a Mouse Model of Leigh Syndrome
September 28, 2021 · 7 citations · Open access
Open original record →What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?
August 1, 2019 · 8 citations · Open access
Open original record →Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease
March 11, 2019 · 19 citations · Open access
Open original record →MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants
February 27, 2019 · 29 citations · Open access
Open original record →New mtDNA Association Model, MutPred Variant Load, Suggests Individuals With Multiple Mildly Deleterious mtDNA Variants Are More Likely to Suffer From Atherosclerosis
January 8, 2019 · 23 citations · Open access
Open original record →Cellular bioenergetics is impaired in patients with chronic fatigue syndrome
October 24, 2017 · 168 citations · Open access
Open original record →MutPred mutational load analysis shows mildly deleterious mitochondrial DNA variants are not more prevalent in Alzheimer's patients, but may be under-represented in healthy older individuals
April 7, 2017 · 25 citations · Open access
Open original record →Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome
March 16, 2017 · 22 citations · Open access
Open original record →The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease
September 5, 2015 · 45 citations · Open access
Open original record →Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing
September 18, 2014 · 173 citations · Open access
Open original record →Mitochondrial Abnormality Associates with Type-Specific Neuronal Loss and Cell Morphology Changes in the Pedunculopontine Nucleus in Parkinson Disease
October 4, 2013 · 68 citations · Open access
Open original record →Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease
January 18, 2012 · 36 citations · Open access
Open original record →OXPHOS gene expression and control in mitochondrial disorders
April 22, 2009 · 172 citations · Open access
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