165 related articles for article (PubMed ID: 31379041)
21. Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
Caporali L; Iommarini L; La Morgia C; Olivieri A; Achilli A; Maresca A; Valentino ML; Capristo M; Tagliavini F; Del Dotto V; Zanna C; Liguori R; Barboni P; Carbonelli M; Cocetta V; Montopoli M; Martinuzzi A; Cenacchi G; De Michele G; Testa F; Nesti A; Simonelli F; Porcelli AM; Torroni A; Carelli V
PLoS Genet; 2018 Feb; 14(2):e1007210. PubMed ID: 29444077
[TBL] [Abstract][Full Text] [Related]
22. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Shashi V; Schoch K; Spillmann R; Cope H; Tan QK; Walley N; Pena L; McConkie-Rosell A; Jiang YH; Stong N; Need AC; Goldstein DB;
Genet Med; 2019 Jan; 21(1):161-172. PubMed ID: 29907797
[TBL] [Abstract][Full Text] [Related]
23. Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D; Won D; Lee ST; Lee CS; Lee J; Lim HT; Chung SA; Song WK; Kim M; Kim SS; Shin S; Choi JR; Sangermano R; Byeon SH; Bujakowska KM; Han J
JAMA Netw Open; 2024 May; 7(5):e2414198. PubMed ID: 38819824
[TBL] [Abstract][Full Text] [Related]
24. Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.
Ji Y; Zhang J; Lu Y; Yi Q; Chen M; Xie S; Mao X; Xiao Y; Meng F; Zhang M; Yang R; Guan MX
J Biol Chem; 2020 Sep; 295(38):13224-13238. PubMed ID: 32723871
[TBL] [Abstract][Full Text] [Related]
25. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T; Yamoto K; Masunaga Y; Asahina M; Endoh Y; Ohkubo Y; Matsubayashi T; Tsurui S; Yamada H; Yanagi K; Nakashima M; Hirano K; Sugimura H; Fukuda T; Ogata T; Saitsu H
Clin Genet; 2021 Jul; 100(1):40-50. PubMed ID: 33644862
[TBL] [Abstract][Full Text] [Related]
26. Analysis of secondary mtDNA mutations in families with Leber's hereditary optic neuropathy: Four novel variants and their association with clinical presentation.
Jancic J; Rovcanin B; Djuric V; Pepic A; Samardzic J; Nikolic B; Novakovic I; Kostic VS
Mitochondrion; 2020 Jan; 50():132-138. PubMed ID: 31743754
[TBL] [Abstract][Full Text] [Related]
27. In silico model of mtDNA mutations effect on secondary and 3D structure of mitochondrial rRNA and tRNA in Leber's hereditary optic neuropathy.
Rovcanin B; Jancic J; Samardzic J; Rovcanin M; Nikolic B; Ivancevic N; Novakovic I; Kostic V
Exp Eye Res; 2020 Dec; 201():108277. PubMed ID: 32991883
[TBL] [Abstract][Full Text] [Related]
28. [Multiple sclerosis and Leber's hereditary optic neuropathy mitochondrial DNA mutations].
Pénisson-Besnier I; Moreau C; Jacques C; Roger JC; Dubas F; Reynier P
Rev Neurol (Paris); 2001 May; 157(5):537-41. PubMed ID: 11438773
[TBL] [Abstract][Full Text] [Related]
29. Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.
La Morgia C; Caporali L; Gandini F; Olivieri A; Toni F; Nassetti S; Brunetto D; Stipa C; Scaduto C; Parmeggiani A; Tonon C; Lodi R; Torroni A; Carelli V
BMC Neurol; 2014 May; 14():116. PubMed ID: 24884847
[TBL] [Abstract][Full Text] [Related]
30. Mitochondrial tRNA variants in 811 Chinese probands with Leber's hereditary optic neuropathy.
Ji Y; Zhang J; Liang M; Meng F; Zhang M; Mo JQ; Wang M; Guan MX
Mitochondrion; 2022 Jul; 65():56-66. PubMed ID: 35623556
[TBL] [Abstract][Full Text] [Related]
31. GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.
Chong M; Mohammadi-Shemirani P; Perrot N; Nelson W; Morton R; Narula S; Lali R; Khan I; Khan M; Judge C; Machipisa T; Cawte N; O'Donnell M; Pigeyre M; Akhabir L; Paré G
Elife; 2022 Jan; 11():. PubMed ID: 35023831
[TBL] [Abstract][Full Text] [Related]
32. Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the
Vandeputte J; Van Heetvelde M; Van Cauwenbergh C; Seneca S; De Baere E; Leroy BP; De Zaeytijd J
Ophthalmic Genet; 2021 Aug; 42(4):440-445. PubMed ID: 33858285
[TBL] [Abstract][Full Text] [Related]
33. Whole mitochondrial genome analysis in South Indian patients with Leber's hereditary optic neuropathy.
Saikia BB; Dubey SK; Shanmugam MK; Sundaresan P
Mitochondrion; 2017 Sep; 36():21-28. PubMed ID: 27989883
[TBL] [Abstract][Full Text] [Related]
34. Clinical characterization and mitochondrial DNA sequence variations in Leber hereditary optic neuropathy.
Kumar M; Kaur P; Kumar M; Saxena R; Sharma P; Dada R
Mol Vis; 2012; 18():2687-99. PubMed ID: 23170061
[TBL] [Abstract][Full Text] [Related]
35. Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.
Ji Y; Zhang AM; Jia X; Zhang YP; Xiao X; Li S; Guo X; Bandelt HJ; Zhang Q; Yao YG
Am J Hum Genet; 2008 Dec; 83(6):760-8. PubMed ID: 19026397
[TBL] [Abstract][Full Text] [Related]
36. Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.
Qu J; Zhou X; Zhang J; Zhao F; Sun YH; Tong Y; Wei QP; Cai W; Yang L; West CE; Guan MX
Ophthalmology; 2009 Mar; 116(3):558-564.e3. PubMed ID: 19167085
[TBL] [Abstract][Full Text] [Related]
37. Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Gardner EJ; Sifrim A; Lindsay SJ; Prigmore E; Rajan D; Danecek P; Gallone G; Eberhardt RY; Martin HC; Wright CF; FitzPatrick DR; Firth HV; Hurles ME
Am J Hum Genet; 2021 Nov; 108(11):2186-2194. PubMed ID: 34626536
[TBL] [Abstract][Full Text] [Related]
38. Analysis of the entire mitochondrial genome reveals Leber's hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis.
Al-Kafaji G; Alharbi MA; Alkandari H; Salem AH; Bakhiet M
Sci Rep; 2022 Jun; 12(1):11099. PubMed ID: 35773337
[TBL] [Abstract][Full Text] [Related]
39. NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
Ivanova EM; Kandilarova SM; Lukanov TI; Naumova EJ; Akabalieva KV; Milanova VK
Curr Top Med Chem; 2021; 21(11):938-948. PubMed ID: 34060999
[TBL] [Abstract][Full Text] [Related]
40. Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy.
Bi R; Zhang AM; Jia X; Zhang Q; Yao YG
Mol Vis; 2012; 18():3087-94. PubMed ID: 23304069
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
