Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization - Lin, Xiang; Jiang, Jun‐Yi; Hong, Dao‐jun; Lin, Kai‐Jun; Li, Jin‐Jing; Chen, Yi‐Jun; Qiu, Yu‐sen; Wang, Zishuai; Liao, Yi‐Chu; Yang, Kang; Shi, Yan; Wang, Meng‐wen; et al. (Movement disorders, 2024)
Keywords: Biosynthesis; Cell lines; Cerebellar ataxia; Cerebellum; coenzyme Q4 gene; Complementation; complementation assay; Danio rerio; Epilepsy; Fibroblasts; Genetic screening; Hereditary spastic paraplegia; Membrane potential; Mitochondria; motor neuron; Mutation; Paralysis; pathogenesis; Pluripotency; Pyramidal cells; Reactive oxygen species; Spasticity; Ubiquinone; complementation assay; pathogenesis; coenzyme Q4 gene; hereditary spastic paraplegia; motor neuron