- Extended spinal cord involvement in adult-onset Leigh syndrome due to mitochondrial 10197G > A mutation
Yanping Wei et al, 2022, Neurological Sciences CrossRef - Management of Leigh syndrome: Current status and new insights
L. Chen et al, 2018, Clinical Genetics CrossRef - Neuroimaging in mitochondrial disorders
Caterina Garone et al, 2018, Essays in Biochemistry CrossRef - Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
Tenghui Wu et al, 2022, Pediatric Neurology CrossRef - 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 - 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 - 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 - Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’
May Yung Tiet et al, 2021, Journal of Neuromuscular Diseases CrossRef - 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 - 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 - 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 - 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 - Frequency and association of mitochondrial genetic variants with neurological disorders
Ana Carolina P. Cruz et al, 2019, Mitochondrion CrossRef