Annamaria De Negri
Rome, 00152, Italy
Last Updated: 09/26/2026
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Found 8 publications
Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.
Journal: Brain : a journal of neurology
Published: June 13, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Journal: Brain : a journal of neurology
Published: June 13, 2025
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
Journal: Brain : a journal of neurology
Published: February 11, 2023
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Journal: Cell reports. Medicine
Published: January 05, 2023
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
Journal: Brain : a journal of neurology
Published: December 15, 2015
Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.
Journal: American journal of ophthalmology
Published: January 15, 2014
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
Journal: Brain : a journal of neurology
Published: December 27, 2013
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.
Journal: Brain : a journal of neurology
Published: February 08, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026