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
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 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
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
Frequency and association of mitochondrial genetic variants with neurological disorders
Ana Carolina P. Cruz et al, 2019, Mitochondrion CrossRef