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1. Experimental demonstration of optimal unambiguous two-out-of-four quantum state elimination

3. Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

4. Pathogenic mtDNA mutations causing mitochondrial myopathy

5. POLRMT mutations impair mitochondrial transcription causing neurological disease

6. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

7. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

13. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

15. Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

21. Forecasting stroke-like episodes and outcomes in mitochondrial disease

22. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

23. A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity

29. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

30. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

33. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

36. Additional file 1 of Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

37. Additional file 3 of Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

39. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

40. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

41. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.

44. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3

49. Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed–Sternberg cells

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