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JIMD Reports|July 14, 2025
Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome HaplogroupsSurita Meldau, Elizabeth M McCormick, Ibrahim George-Sankoh, et al.
Plos Genetics|November 21, 2012
Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutationsLaura C Greaves, Joanna L Elson, Marco Nooteboom, et al.
Scientific Reports|March 1, 2019
MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variantsMarianne Venter, Cara Tomas, Ilse S Pienaar, et al.
Biochemical and Biophysical Research Communications|October 15, 2008
Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathyM Elstner, C Schmidt, V C Zingler, et al.
Molecular Psychiatry|November 3, 2021
Genome-wide association study of problematic opioid prescription use in 132,113 23andMe research participants of European ancestrySandra Sanchez-Roige, Pierre Fontanillas, Mariela V Jennings, et al.
Mitochondrion|November 21, 2023
Mitochondrial DNA mutation pathogenicity score and neurocognitive performance in persons with HIVKaren E Volpe, David C Samuels, Joanna L Elson, et al.
Aging Cell|June 6, 2025
Type-Specific Single-Neuron Analysis Reveals Mitochondrial DNA Maintenance Failure Affecting Atrophying Pontine Neurons Differentially in Lewy Body Dementia SyndromesEloise J Stephenson, Laura J Bailey, Stephen Gentleman, et al.
American Journal of Human Genetics|April 9, 2002
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroupsCorinna Herrnstadt, Joanna L Elson, Eoin Fahy, et al.
Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis|July 1, 2020
Evolutionary dissection of mtDNA hg H: a susceptibility factor for hypertrophic cardiomyopathyChristian M Hagen, Joanna L Elson, Paula L Hedley, et al.
Neuromuscular Disorders : NMD|February 26, 2013
Initial development and validation of a mitochondrial disease quality of life scaleJ L Elson, M Cadogan, S Apabhai, et al.
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