Decrease of 3243 A–>G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

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4. The 13042G→A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype
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7. Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study
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8. Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications
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9. Insight into mammalian mitochondrial DNA segregation
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11. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
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12. Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases
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13. Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
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14. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult
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15. Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study
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18. Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome
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19. Epidemiology of Mitochondrial Disease
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20. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
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21. Evaluation for Secondary Causes of Headache: The Role of Blood and Urine Testing
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22. G-quadruplex-mediated reduction of a pathogenic mitochondrial heteroplasmy
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23. Roles of Mitochondrial DNA Mutations in Stem Cell Ageing
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24. Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders
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25. A Juvenile Case of MELAS with T3271C Mitochondrial DNA Mutation
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26. Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations
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27. Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families
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28. The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models
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29. MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation
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30. Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease
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31. Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations
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32. Mutation loads in different tissues from six pathogenic mtDNA point mutations
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33. Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10‐year Prospective Cohort
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34. Mitochondrial diseases
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35. Atypical clinical presentations of the A3243G mutation, usually associated with MELAS
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36. Heteroplasmy Shifting as Therapy for Mitochondrial Disorders
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37. A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck
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38. 3697G>A in MT-ND1 is a causative mutation in mitochondrial disease
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39. Genetic and reproductive strategies to prevent mitochondrial diseases
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40. Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation
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41. Mitochondrial diabetes
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67. Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
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69. T cell activation contributes to purifying selection against the MELAS‐associated m.3243A>G pathogenic variant in blood
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70. Association of mitochondrial DNA variants with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) symptoms
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74. Common Principles Underlie Mitochondrial DNA Heteroplasmy Dynamics in the Germline and Soma
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