ArticleBrain : a journal of neurology2016
Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.
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Article in Brain : a journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19citing papers in PubMed
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Who cites it
19 citing papers in PubMed.
- Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial DNA-Encoded Respiratory Complex I Subunits.Clinical genetics · 2025Review
- Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease.Human molecular genetics · 2024Review
- Continuous Hypoxia Reduces Retinal Ganglion Cell Degeneration in a Mouse Model of Mitochondrial Optic Neuropathy.Investigative ophthalmology & visual science · 2022Article
- Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.Clinical genetics · 2022Article
- Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?Orphanet journal of rare diseases · 2022Article
- The potential of mitochondrial genome engineering.Nature reviews. Genetics · 2022Review
- Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.International journal of molecular sciences · 2021Review
- Characterisation of thickness changes in the peripapillary retinal nerve fibre layer in patients with Leber's hereditary optic neuropathy.The British journal of ophthalmology · 2021Article
- Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.BMC medical genomics · 2021Article
- Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation.Metabolic brain disease · 2020Article
- Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.Orphanet journal of rare diseases · 2019Article
- Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.BMC research notes · 2018Article
- Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.BMC medical genetics · 2018Article
- The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient.Frontiers in neuroscience · 2018Article
- Reversible Valproate-Induced Subacute Encephalopathy Associated With aFrontiers in neurology · 2018Article
- Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2017Article
- Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.Brain : a journal of neurology · 2016Article
- Reply: Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.Brain : a journal of neurology · 2016Article
- Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways.Cell death & disease · 2015Article
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Authors and funding
9 authors.
Angelica Bianco1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy.
Iñigo Martínez-Romero2 Departamento de Bioquímica, Biología Molecular y Celular; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER); Instituto de Investigación Sanitaria de Aragón. Universidad de Zaragoza. 50013-Zaragoza, Spain.
Luigi Bisceglia3 IRCCS Casa Sollievo della Sofferenza, UOC Genetica Medica, San Giovanni Rotondo, Italy.
Leonardo D'Agruma3 IRCCS Casa Sollievo della Sofferenza, UOC Genetica Medica, San Giovanni Rotondo, Italy.
Paola Favia1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy.
Eduardo Ruiz-Pesini2 Departamento de Bioquímica, Biología Molecular y Celular; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER); Instituto de Investigación Sanitaria de Aragón. Universidad de Zaragoza. 50013-Zaragoza, Spain 1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy.
Silvana Guerriero1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy.
Julio Montoya2 Departamento de Bioquímica, Biología Molecular y Celular; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER); Instituto de Investigación Sanitaria de Aragón. Universidad de Zaragoza. 50013-Zaragoza, Spain vittoria.petruzzella@uniba.it jmontoya@unizar.es.
Vittoria Petruzzella1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy vittoria.petruzzella@uniba.it jmontoya@unizar.es.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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Indexed as
PenetranceDNA, MitochondrialFemaleHumansMaleMitochondrial TurnoverOptic Atrophy, Hereditary, LeberDNA, Mitochondrial
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PMID
26209315What OpenQuestion holds
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Registered trials
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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.