These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
123 related articles for article (PubMed ID: 22532554)
21. Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders. Mkaouar-Rebai E; Felhi R; Tabebi M; Alila-Fersi O; Chamkha I; Maalej M; Ammar M; Kammoun F; Keskes L; Hachicha M; Fakhfakh F Biochem Biophys Res Commun; 2016 Apr; 473(2):578-85. PubMed ID: 27033601 [TBL] [Abstract][Full Text] [Related]
22. Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I. Danhelovska T; Kolarova H; Zeman J; Hansikova H; Vaneckova M; Lambert L; Kucerova-Vidrova V; Berankova K; Honzik T; Tesarova M BMC Pediatr; 2020 Jan; 20(1):41. PubMed ID: 31996177 [TBL] [Abstract][Full Text] [Related]
23. Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. Shoubridge EA; Johns T; Karpati G Hum Mol Genet; 1997 Dec; 6(13):2239-42. PubMed ID: 9361028 [TBL] [Abstract][Full Text] [Related]
24. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein. López-Gallardo E; Solano A; Herrero-Martín MD; Martínez-Romero I; Castaño-Pérez MD; Andreu AL; Herrera A; López-Pérez MJ; Ruiz-Pesini E; Montoya J J Med Genet; 2009 Jan; 46(1):64-7. PubMed ID: 19124644 [TBL] [Abstract][Full Text] [Related]
26. RNA-based generation of iPSCs from a boy carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 and from his healthy mother. Steiner T; Zink A; Henke MT; Cecchetto G; Buenning M; Rossi A; Schuelke M; Prigione A Stem Cell Res; 2022 Oct; 64():102920. PubMed ID: 36137325 [TBL] [Abstract][Full Text] [Related]
27. Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy. Perli E; Giordano C; Tuppen HA; Montopoli M; Montanari A; Orlandi M; Pisano A; Catanzaro D; Caparrotta L; Musumeci B; Autore C; Morea V; Di Micco P; Campese AF; Leopizzi M; Gallo P; Francisci S; Frontali L; Taylor RW; d'Amati G Hum Mol Genet; 2012 Jan; 21(1):85-100. PubMed ID: 21945886 [TBL] [Abstract][Full Text] [Related]
28. Two new mutations in the MTATP6 gene associated with Leigh syndrome. Moslemi AR; Darin N; Tulinius M; Oldfors A; Holme E Neuropediatrics; 2005 Oct; 36(5):314-8. PubMed ID: 16217706 [TBL] [Abstract][Full Text] [Related]
29. Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success. Sallevelt SC; Dreesen JC; Drüsedau M; Spierts S; Coonen E; van Tienen FH; van Golde RJ; de Coo IF; Geraedts JP; de Die-Smulders CE; Smeets HJ J Med Genet; 2013 Feb; 50(2):125-32. PubMed ID: 23339111 [TBL] [Abstract][Full Text] [Related]
30. Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis. Longo G; Russo S; Novelli G; Sangiuolo F; D'Apice MR Clin Genet; 2016 Jan; 89(1):93-8. PubMed ID: 26338224 [TBL] [Abstract][Full Text] [Related]
31. Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. Childs AM; Hutchin T; Pysden K; Highet L; Bamford J; Livingston J; Crow YJ Neuropediatrics; 2007 Dec; 38(6):313-6. PubMed ID: 18461509 [TBL] [Abstract][Full Text] [Related]
32. [Prenatal diagnosis and genetic counseling of X-linked Alport syndrome in China]. Zhang HW; Ding J; Wang F; Yang HX Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):484-9. PubMed ID: 17953801 [TBL] [Abstract][Full Text] [Related]
33. Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults. Dahl HH; Thorburn DR; White SL Hum Reprod; 2000 Jul; 15 Suppl 2():246-55. PubMed ID: 11041530 [TBL] [Abstract][Full Text] [Related]
34. Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi. Niers L; van den Heuvel L; Trijbels F; Sengers R; Smeitink J; J Inherit Metab Dis; 2003; 26(7):647-58. PubMed ID: 14707513 [TBL] [Abstract][Full Text] [Related]
35. Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients. Ahari SE; Houshmand M; Panahi MS; Kasraie S; Moin M; Bahar MA Cell Mol Neurobiol; 2007 Sep; 27(6):695-700. PubMed ID: 17619138 [TBL] [Abstract][Full Text] [Related]
37. Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy. Lu Y; Zhao D; Yao S; Wu S; Hong D; Wang Q; Liu J; Smeitink JAM; Yuan Y; Wang Z J Neurol Sci; 2017 Aug; 379():137-143. PubMed ID: 28716227 [TBL] [Abstract][Full Text] [Related]
38. Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms. Widgren P; Hurme A; Falck A; Keski-Filppula R; Remes AM; Moilanen J; Majamaa K; Kervinen M; Uusimaa J Acta Ophthalmol; 2016 Feb; 94(1):83-91. PubMed ID: 26448634 [TBL] [Abstract][Full Text] [Related]
39. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy. Seneca S; Goemans N; Van Coster R; Givron P; Reybrouck T; Sciot R; Meulemans A; Smet J; Van Hove JL Am J Med Genet A; 2005 Aug; 137(2):170-5. PubMed ID: 16059939 [TBL] [Abstract][Full Text] [Related]
40. Prenatal diagnosis of congenital myotonic dystrophy and counseling of the pregnant mother: case report and literature review. Geifman-Holtzman O; Fay K Am J Med Genet; 1998 Jul; 78(3):250-3. PubMed ID: 9677060 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]