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You search for a phrase ""HEREDITARY OPTIC NEUROPATHY"" according to the criterion: Subject Terms


Title:
Peripapillary hyperreflective ovoid mass-like structures (PHOMS) in patients with acute Leber’s hereditary optic neuropathy
Authors:
Borrelli, EnricoAff1, Aff2, IDs0041702306205y_cor1
Cascavilla, Maria LuciaAff1, Aff2
Lari, GiorgioAff1, Aff2
De Negri, Anna Maria
Battista, MarcoAff1, Aff2
Galzignato, Alice
Coutinho, Catarina
Berni, AlessandroAff1, Aff2
Barresi, CostanzaAff1, Aff2
Ricciotti, Guido
Bandello, FrancescoAff1, Aff2
Barboni, PieroAff1, Aff2, Aff4
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Source:
Graefe's Archive for Clinical and Experimental Ophthalmology: Incorporating German Journal of Ophthalmology. 262(1):261-265
Academic Journal
Title:
Mitochondrial DNA mutations in Korean patients with Leber’s hereditary optic neuropathy
Authors:
Hee Kyung Yang
Moon-Woo Seong
Jeong-Min Hwang
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Subject Terms:
Leber’s hereditary optic neuropathy
Mitochondrial DNA mutation
Spectrum
Koreans
Medicine
Science
Source:
Scientific Reports, Vol 14, Iss 1, Pp 1-5 (2024)
File Description:
electronic resource
Relation:
https://doaj.org/toc/2045-2322
Access URL:
https://doaj.org/article/f6b7000164654c23808164030a7abaca  Link opens in a new window
Academic Journal
Title:
Development of a deep learning model to distinguish the cause of optic disc atrophy using retinal fundus photography
Authors:
Dong Kyu Lee
Young Jo Choi
Seung Jae Lee
Hyun Goo Kang
Yu Rang Park
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Subject Terms:
Deep learning
Fundus photography
Leber hereditary optic neuropathy
Optic neuritis
Optic neuropathy
Medicine
Science
Source:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
File Description:
electronic resource
Relation:
https://doaj.org/toc/2045-2322
Access URL:
https://doaj.org/article/6bb0114f6beb4ecab06de6602c762e0b  Link opens in a new window
Academic Journal
Title:
Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume
Authors:
Cinzia Bocca
Judith Kouassi-Nzoughet
Juan Manuel Chao de la Barca
Dominique Bonneau
Christophe Verny
Philippe Gohier
Christophe Orssaud
Pascal Reynier
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Subject Terms:
Glaucoma
Leber hereditary optic neuropathy
Mitochondria
Nicotinamide
Optic neuropathy
Retinal ganglion cells
Neurology. Diseases of the nervous system
RC346-429
Source:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-3 (2024)
File Description:
electronic resource
Relation:
https://doaj.org/toc/2051-5960
Access URL:
https://doaj.org/article/4f745d54585a4808a18b008b47ac493d  Link opens in a new window
Academic Journal
Title:
Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation
Authors:
Wang, JingAff1, Aff2, Aff3
Ji, YanchunAff2, Aff3
Ai, Cheng
Chen, Jia-RongAff1, Aff2, Aff3
Gan, Dingyi
Zhang, JuanjuanAff3, Aff4
Mo, Jun Q.
Guan, Min-XinAff1, Aff2, Aff3, Aff6, Aff7, IDs12929023009511_cor8
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Source:
Journal of Biomedical Science. 30(1)
Academic Journal
Title:
Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation
Authors:
Jing Wang
Yanchun Ji
Cheng Ai
Jia-Rong Chen
Dingyi Gan
Juanjuan Zhang
Jun Q. Mo
Min-Xin Guan
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Subject Terms:
Leber’s hereditary optic neuropathy
Mitochondrial DNA mutation
Complex I
Allotopic expression
Apoptosis
Mitophagy
Medicine
Source:
Journal of Biomedical Science, Vol 30, Iss 1, Pp 1-17 (2023)
File Description:
electronic resource
Relation:
https://doaj.org/toc/1423-0127
Access URL:
https://doaj.org/article/88f101b335bf4e43ae57e28557b88262  Link opens in a new window
Academic Journal
Title:
A rare, likely pathogenic variant causing Leber's hereditary optic neuropathy in three-generation females of an African-American family
Authors:
Yanjun Chen
Elizabeth R. Kellom
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Subject Terms:
Leber's hereditary optic neuropathy (LHON)
14596A>T variant
Females
Nutritional deficiency
Ophthalmology
RE1-994
Source:
American Journal of Ophthalmology Case Reports, Vol 32, Iss , Pp 101936- (2023)
File Description:
electronic resource
Relation:
http://www.sciencedirect.com/science/article/pii/S2451993623001445; https://doaj.org/toc/2451-9936
Access URL:
https://doaj.org/article/e24dd78aa0aa40c7a8939a98bc6b1706  Link opens in a new window
Academic Journal
Title:
Photoreceptor changes in Leber hereditary optic neuropathy with m.G11778A mutation
Authors:
Qing-Mei Miao
Yu-Fang Cheng
Hong-Mei Zheng
Jia-Jia Yuan
Chang-Zheng Chen
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Subject Terms:
leber hereditary optic neuropathy
asymptomatic carriers
photoreceptor
electroretinogram
mitochondrial dysfunction
Ophthalmology
RE1-994
Source:
International Journal of Ophthalmology, Vol 16, Iss 6, Pp 928-932 (2023)
File Description:
electronic resource
Relation:
http://ies.ijo.cn/en_publish/2023/6/20230615.pdf; https://doaj.org/toc/2222-3959; https://doaj.org/toc/2227-4898
Access URL:
https://doaj.org/article/bec0d4eef40e4d87aa0ddd7a02298745  Link opens in a new window
Academic Journal
Title:
The Optic Nerve at Stake: Update on Environmental Factors Modulating Expression of Leber’s Hereditary Optic Neuropathy
Authors:
Pierre Layrolle
Christophe Orssaud
Maryse Leleu
Pierre Payoux
Stéphane Chavanas
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Subject Terms:
Leber’s hereditary optic neuropathy
optic neuropathy
environmental factors
neurodegeneration
mitochondrial disease
drugs
Biology (General)
QH301-705.5
Source:
Biomedicines, Vol 12, Iss 3, p 584 (2024)
File Description:
electronic resource
Relation:
https://www.mdpi.com/2227-9059/12/3/584; https://doaj.org/toc/2227-9059
Access URL:
https://doaj.org/article/dac2a9b9869d4d57bb1dc7bfb0b4f74b  Link opens in a new window
Academic Journal
Title:
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation
Authors:
Carelli, ValerioAff1, Aff2, IDs4012302200611x_cor1
Newman, Nancy J.Aff3, Aff4, Aff5
Yu-Wai-Man, PatrickAff6, Aff7, Aff8, Aff9
Biousse, ValerieAff3, Aff4, Aff5
Moster, Mark L.Aff10, Aff11
Subramanian, Prem S.
Vignal-Clermont, CatherineAff13, Aff14
Wang, An-Guor
Donahue, Sean P.
Leroy, Bart P.Aff17, Aff18
Sergott, Robert C.Aff10, Aff11
Klopstock, ThomasAff19, Aff20, Aff21
Sadun, Alfredo A.
Rebolleda Fernández, Gema
Chwalisz, Bart K.
Banik, Rudrani
Girmens, Jean François
La Morgia, ChiaraAff1, Aff2
DeBusk, Adam A.Aff10, Aff11
Jurkute, NeringaAff8, Aff9, Aff26
Priglinger, Claudia
Karanjia, RustumAff22, Aff28
Josse, Constant
Salzmann, Julie
Montestruc, François
Roux, Michel
Taiel, Magali
Sahel, José-AlainAff32, Aff33, Aff34, Aff35
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Source:
Ophthalmology and Therapy. 12(1):401-429
Academic Journal
Title:
A Rare ND5 Mutation Causing Leber’s Hereditary Optic Neuropathy
Authors:
Bhadra U Pandya
Amir R. Vosoughi
Aaditeya Jhaveri
Jonathan A. Micieli
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Subject Terms:
leber’s hereditary optic neuropathy
nd5
mitochondrial dna
Ophthalmology
RE1-994
Source:
Case Reports in Ophthalmology, Vol 14, Iss 1, Pp 99-103 (2023)
File Description:
electronic resource
Relation:
https://www.karger.com/Article/FullText/529423; https://doaj.org/toc/1663-2699
Access URL:
https://doaj.org/article/8a1b6031b7d34911853332cd4ab5572c  Link opens in a new window
Academic Journal
Title:
Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic
Authors:
Michael James Gilhooley
Naz Raoof
Patrick Yu-Wai-Man
Mariya Moosajee
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Subject Terms:
optic neuropathy
paediatric
Leber hereditary optic neuropathy
dominant optic atrophy
Genetics
QH426-470
Source:
Genes, Vol 15, Iss 2, p 188 (2024)
File Description:
electronic resource
Relation:
https://www.mdpi.com/2073-4425/15/2/188; https://doaj.org/toc/2073-4425
Access URL:
https://doaj.org/article/5861452d3a3c491caf17fc6e6c61f723  Link opens in a new window
Academic Journal

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