12 results on '"Caporali, Leonardo"'
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2. A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I
3. AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype–Phenotype Characterization Compared to OPA1 Patients
4. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
5. Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
6. Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New Paradigm
7. New insights into idebenone therapy in relation to NQO1
8. Genetic variants of NQO1 affect the expression and activity of the protein, which determines the efficacy of idebenone treatment in Leber's hereditary optic neuropathy
9. Modelling MERRF in 3D cortical organoids: manipulating patient-derived iPSCs to gain insight on prospective pre-clinical therapeutic strategies
10. Recessive MECR pathogenic variants cause an LHONlike optic neuropathy.
11. Recessive MECRpathogenic variants cause an LHON-like optic neuropathy
12. COQ7defect causes prenatal onset of mitochondrial CoQ10deficiency with cardiomyopathy and gastrointestinal obstruction
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