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2. Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia. Korkiamäki P; Kervinen M; Karjalainen K; Majamaa K; Uusimaa J; Remes AM Acta Ophthalmol; 2013 Nov; 91(7):630-4. PubMed ID: 22970697 [TBL] [Abstract][Full Text] [Related]
3. [Research progress of Leber hereditary optic neuropathy]. Zhang AM; Yao YG Yi Chuan; 2013 Feb; 35(2):123-35. PubMed ID: 23448924 [TBL] [Abstract][Full Text] [Related]
4. Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients. Dimitriadis K; Leonhardt M; Yu-Wai-Man P; Kirkman MA; Korsten A; De Coo IF; Chinnery PF; Klopstock T Orphanet J Rare Dis; 2014 Oct; 9():158. PubMed ID: 25338955 [TBL] [Abstract][Full Text] [Related]
5. Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study. Rabenstein A; Catarino CB; Rampeltshammer V; Schindler D; Gallenmüller C; Priglinger C; Pogarell O; Rüther T; Klopstock T Orphanet J Rare Dis; 2021 Mar; 16(1):127. PubMed ID: 33706792 [TBL] [Abstract][Full Text] [Related]
6. [A study of clinical and genetic characteristics of a Leber hereditary optic neuropathy family with the heteroplasmic m.14484T>C mutation]. Sun Y; Lei K; Xu ZL; Geng Y Zhonghua Yan Ke Za Zhi; 2018 Jul; 54(7):526-534. PubMed ID: 29996615 [No Abstract] [Full Text] [Related]
7. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Hudson G; Carelli V; Spruijt L; Gerards M; Mowbray C; Achilli A; Pyle A; Elson J; Howell N; La Morgia C; Valentino ML; Huoponen K; Savontaus ML; Nikoskelainen E; Sadun AA; Salomao SR; Belfort R; Griffiths P; Yu-Wai-Man P; de Coo RF; Horvath R; Zeviani M; Smeets HJ; Torroni A; Chinnery PF Am J Hum Genet; 2007 Aug; 81(2):228-33. PubMed ID: 17668373 [TBL] [Abstract][Full Text] [Related]
8. Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA. Catarino CB; Ahting U; Gusic M; Iuso A; Repp B; Peters K; Biskup S; von Livonius B; Prokisch H; Klopstock T Mitochondrion; 2017 Sep; 36():15-20. PubMed ID: 27721048 [TBL] [Abstract][Full Text] [Related]
9. Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features. Marotta R; Chin J; Chiotis M; Shuey N; Collins SJ Mitochondrion; 2020 Sep; 54():128-132. PubMed ID: 32861874 [TBL] [Abstract][Full Text] [Related]
10. Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects. Bianco A; Bisceglia L; Trerotoli P; Russo L; D'Agruma L; Guerriero S; Petruzzella V Acta Myol; 2017 Sep; 36(3):163-177. PubMed ID: 29774306 [TBL] [Abstract][Full Text] [Related]
11. Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. Yu D; Jia X; Zhang AM; Guo X; Zhang YP; Zhang Q; Yao YG Neurogenetics; 2010 Jul; 11(3):349-56. PubMed ID: 20232220 [TBL] [Abstract][Full Text] [Related]
12. Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation. Piotrowska-Nowak A; Krawczyński MR; Kosior-Jarecka E; Ambroziak AM; Korwin M; Ołdak M; Tońska K; Bartnik E Metab Brain Dis; 2020 Dec; 35(8):1317-1327. PubMed ID: 32740724 [TBL] [Abstract][Full Text] [Related]
14. Quality of life in patients with leber hereditary optic neuropathy. Kirkman MA; Korsten A; Leonhardt M; Dimitriadis K; De Coo IF; Klopstock T; Griffiths PG; Hudson G; Chinnery PF; Yu-Wai-Man P Invest Ophthalmol Vis Sci; 2009 Jul; 50(7):3112-5. PubMed ID: 19255150 [TBL] [Abstract][Full Text] [Related]
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17. 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. Bianco A; Bisceglia L; De Caro MF; Galeandro V; De Bonis P; Tullo A; Zoccolella S; Guerriero S; Petruzzella V BMC Med Genet; 2018 Jul; 19(1):129. PubMed ID: 30053855 [TBL] [Abstract][Full Text] [Related]
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19. Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low? Mackey DA; Ong JS; MacGregor S; Whiteman DC; Craig JE; Lopez Sanchez MIG; Kearns LS; Staffieri SE; Clarke L; McGuinness MB; Meteoukki W; Samuel S; Ruddle JB; Chen C; Fraser CL; Harrison J; Howell N; Hewitt AW Am J Hum Genet; 2023 Jan; 110(1):170-176. PubMed ID: 36565701 [TBL] [Abstract][Full Text] [Related]