1. Extended spinal cord involvement in adult-onset Leigh syndrome due to mitochondrial 10197G > A mutation
    Yanping Wei et al, 2022, Neurological Sciences CrossRef
  2. Management of Leigh syndrome: Current status and new insights
    L. Chen et al, 2018, Clinical Genetics CrossRef
  3. Neuroimaging in mitochondrial disorders
    Caterina Garone et al, 2018, Essays in Biochemistry CrossRef
  4. Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
    Tenghui Wu et al, 2022, Pediatric Neurology CrossRef
  5. Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability
    D. Tolomeo et al, 2019, Journal of the Neurological Sciences CrossRef
  6. Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation
    Mario D Cordero et al, 2016, Journal of Medical Genetics CrossRef
  7. Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy
    Ke Gong et al, 2021, Molecular Genetics & Genomic Medicine CrossRef
  8. Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’
    May Yung Tiet et al, 2021, Journal of Neuromuscular Diseases CrossRef
  9. Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review
    Phepy G. A. Dawod et al, 2021, Diagnostics CrossRef
  10. Assessing the performance of Coenzyme Q10 loaded DQAsomes to treat Leigh syndrome caused by NDUFS4 knockout
    Burcu Uner et al, 2024, Journal of Drug Delivery Science and Technology CrossRef
  11. Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy
    Tsz-ki Ling et al, 2019, Clinica Chimica Acta CrossRef
  12. Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome
    Thomas Johnstone et al, 2020, Molecular Genetics and Metabolism CrossRef
  13. Frequency and association of mitochondrial genetic variants with neurological disorders
    Ana Carolina P. Cruz et al, 2019, Mitochondrion CrossRef