Associated Papers
First Case in Lithuania of an Autosomal Recessive Mutation in the DNAJC30 Gene as a Cause of Leber's Hereditary Optic Neuropathy.
Sereikaite L et al.
Genes, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
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Nuclear DNA Mutation in KIF5A Causing Autosomal Dominant Phenotypic Leber Hereditary Optic Neuropathy.
Pandya BU et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2024
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
Lenaers G et al.
Brain : a Journal of Neurology, 2023
A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes.
Shen C et al.
Genes & Diseases, 2023
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
Major TC et al.
Frontiers in Neurology, 2023
Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family.
Pojda-Wilczek D et al.
Diagnostics (basel, Switzerland), 2022
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Kieninger S et al.
Journal of Medical Genetics, 2022
Mitochondrial Retinopathies.
Zeviani M et al.
International Journal of Molecular Sciences, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL et al.
The Journal of Clinical Investigation, 2021
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