ArticleNeurology2016
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.
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In one paragraph
Article in Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28citing papers in PubMed
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Who cites it
28 citing papers in PubMed.
- Clinical Features of Leber Hereditary Optic Neuropathy Carrying a Rare m.13051G>A Mitochondrial Mutation: A Case Report.Korean journal of ophthalmology : KJO · 2025Article
- Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy.Brain communications · 2025Article
- Establishment of human Leber's hereditary optic neuropathy model using iPSC-derived retinal organoids.Frontiers in cellular neuroscience · 2025Article
- A Japanese Case of Leber's Hereditary Optic Neuropathy with the m.13051G>A Pathogenic Variant.Neuro-ophthalmology (Aeolus Press) · 2024Article
- Clinical Approaches for Mitochondrial Diseases.Cells · 2023Review
- Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.International journal of molecular sciences · 2023Article
- Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.Cell reports · 2022Article
- Broad activation of the Parkin pathway induces synaptic mitochondrial deficits in early tauopathy.Brain : a journal of neurology · 2022Article
- Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects.Antioxidants (Basel, Switzerland) · 2022Article
- Leber hereditary optic neuropathy-new insights and old challenges.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Review
- Mitophagy: An Emerging Target in Ocular Pathology.Investigative ophthalmology & visual science · 2021Review
- Dynamic properties of mitochondria during human corticogenesis.Development (Cambridge, England) · 2021Review
- Changes in Visual Function and Correlations with Inner Retinal Structure in Acute and Chronic Leber's Hereditary Optic Neuropathy Patients after Treatment with Idebenone.Journal of clinical medicine · 2021Article
- Childhood-Onset Leber Hereditary Optic Neuropathy: Particular Features.International medical case reports journal · 2021Article
- Case Report: A Novel Mutation in the MitochondrialFrontiers in neurology · 2021Article
- Review
- Diabetic Retinopathy: The Role of Mitochondria in the Neural Retina and Microvascular Disease.Antioxidants (Basel, Switzerland) · 2020Review
- Mitophagy in Hypertension-Associated Premature Vascular Aging.American journal of hypertension · 2020Review
- Visual function in chronic Leber's hereditary optic neuropathy during idebenone treatment initiated 5 to 50 years after onset.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Observational
- Article
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Authors and funding
19 authors.
Eszter DombiFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Alan DiotFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Karl MortenFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Janet CarverFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Tiffany LodgeFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Carl FratterFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Yi Shiau NgFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Chunyan LiaoFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Rebecca MuirFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Emma L BlakelyFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Iain HargreavesFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Mazhor Al-DosaryFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Gopa SarkarFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Simon J HickmanFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Susan M DownesFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Sandeep JayawantFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Patrick Yu-Wai-ManFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Robert W TaylorFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
Joanna PoultonFrom the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK. joanna.poulton@obs-gyn.ox.ac.uk.
Funding
Medical Research Council G0601943Medical Research Council G0701386Medical Research Council G0800674Medical Research Council G1002570Medical Research Council MR/J010448/1Wellcome Trust 0948685/Z/10/ZWellcome Trust 096919/Z/11/Z
Abstract
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Indexed as
NeurologyAcidosis, LacticAdolescentAdultAgedAged, 80 and overAntioxidantsCells, CulturedChildChild, PreschoolDNA, MitochondrialFemaleFibroblastsHumansInfantInfant, NewbornAntioxidantsDNA, MitochondrialidebenoneMAP1LC3A protein, humanMicrotubule-Associated ProteinsMitochondrial Membrane Transport ProteinsMitochondrial Precursor Protein Import Complex ProteinsTOMM22 protein, humanUbiquinone
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