ArticleJournal of medical genetics2022
Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- When LHON Mimics Demyelination: Area Postrema Syndrome in BiallelicJournal of clinical medicine · 2026Article
- Analysis of genetic risk factors for Leber hereditary optic neuropathy in the Polish population.Journal of applied genetics · 2026Article
- A Heteroplasmic MT-CO2 m.8024G > A Variant Is Associated with Mitochondrial Bioenergetic Deficiency and Optic Atrophy.Molecular neurobiology · 2026Article
- Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy.European journal of human genetics : EJHG · 2026Article
- Article
- Evaluation of Visual and Optical Coherence Tomography Outcomes in Patients with Leber's Hereditary Optic Neuropathy Treated with Idebenone.Life (Basel, Switzerland) · 2025Article
- Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.Brain : a journal of neurology · 2025Article
- Leber's hereditary optic neuropathy - current status of idebenone and gene replacement therapies.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- The value of genetic testing in pediatric and adult ophthalmology.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.Orphanet journal of rare diseases · 2024Article
- Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.Cell reports. Medicine · 2024Article
- Leber's hereditary optic neuropathy: Update on the novel genes and therapeutic options.Journal of the Chinese Medical Association : JCMA · 2024Article
- Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.Brain : a journal of neurology · 2023Article
- Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.Journal of neurology · 2023Article
- Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups.International journal of molecular sciences · 2023Article
- Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).PloS one · 2023Article
- Case report: Mutations inFrontiers in neurology · 2023Article
- Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family.Diagnostics (Basel, Switzerland) · 2022Article
- Neuromuscular disease: 2022 update.Free neuropathology · 2022Article
- Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.Frontiers in neurology · 2022Article
Corrections and comments
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Authors and funding
14 authors at 9 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLeber's hereditary optic neuropathy (LHON) has been considered a prototypical mitochondriopathy and a textbook example for maternal inheritance linked to certain disease-causing variants in the mitochondrial genome. Recently, an autosomal recessive form of LHON (arLHON) has been described, caused by disease-causing variants in the nuclear encoded gene METHODS AND
resultsIn this study, we screened the
conclusionThis study expands previous findings on arLHON and emphasises the importance of
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.