Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference26 articles.
1. The enigmatic relationship between mitochondrial dysfunction and Leber’s hereditary optic neuropathy
2. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
3. Functional Analysis of Lymphoblast and Cybrid Mitochondria Containing the 3460, 11778, or 14484 Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
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1. Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON);PLOS ONE;2023-02-24
2. Leber Mitochondrial Optic Neuropathy in Pediatric Females With Focus on Very Early Onset Cases;Journal of Child Neurology;2023-01-19
3. Clinical and Genetic Profile of Leber's Hereditary Optic Neuropathy in a Cohort of Patients From a Tertiary Eye Care Center;Journal of Pediatric Ophthalmology & Strabismus;2022-09
4. The role of mtDNA haplogroups on metabolic features in narcolepsy type 1;Mitochondrion;2022-03
5. New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/MT-ND4 Mutation Associated with Leber’s Hereditary Optic Neuropathy;Molecules;2022-02-16
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