Associated Papers
Super-Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review.
Mohammadi P et al.
Annals of Clinical and Translational Neurology, 2026
Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.
Othman BA et al.
Genes, 2022
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X et al.
Molecular Genetics and Genomics : Mgg, 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Loiselet K et al.
Developmental Medicine and Child Neurology, 2021
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Lee J et al.
Molecular Medicine Reports, 2016
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