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678 related items for PubMed ID: 2541333
41. [Mitochondrial DNA deletion in a case of progressive ophthalmoplegia]. Luppi M, Marasca R, Sola P, Corradi M, Fancinelli M, Montorsi M, Manfredini R, Selleri L. Medicina (Firenze); 1990; 10(2):166-8. PubMed ID: 2273955 [Abstract] [Full Text] [Related]
43. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC. Proc Natl Acad Sci U S A; 1989 Oct; 86(20):7952-6. PubMed ID: 2554297 [Abstract] [Full Text] [Related]
44. Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations. Nelson I, Bonne G, Degoul F, Marsac C, Ponsot G, Lestienne P. Neuropediatrics; 1992 Aug; 23(4):199-205. PubMed ID: 1407387 [Abstract] [Full Text] [Related]
45. Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. Fischel-Ghodsian N, Bohlman MC, Prezant TR, Graham JM, Cederbaum SD, Edwards MJ. Pediatr Res; 1992 Jun; 31(6):557-60. PubMed ID: 1635816 [Abstract] [Full Text] [Related]
46. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M. Pediatr Res; 1990 Aug; 28(2):131-6. PubMed ID: 2395603 [Abstract] [Full Text] [Related]
47. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Schon EA, Rizzuto R, Moraes CT, Nakase H, Zeviani M, DiMauro S. Science; 1989 Apr 21; 244(4902):346-9. PubMed ID: 2711184 [Abstract] [Full Text] [Related]
49. Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres. Oldfors A, Larsson NG, Holme E, Tulinius M, Kadenbach B, Droste M. J Neurol Sci; 1992 Jul 21; 110(1-2):169-77. PubMed ID: 1324295 [Abstract] [Full Text] [Related]
56. Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review. Geny C, Cormier V, Meyrignac C, Cesaro P, Degos JD, Gherardi R, Rötig A. J Neurol; 1991 Jun 16; 238(3):171-6. PubMed ID: 1908005 [Abstract] [Full Text] [Related]
57. New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle. Schröder R, Vielhaber S, Wiedemann FR, Kornblum C, Papassotiropoulos A, Broich P, Zierz S, Elger CE, Reichmann H, Seibel P, Klockgether T, Kunz WS. J Neuropathol Exp Neurol; 2000 May 16; 59(5):353-60. PubMed ID: 10888364 [Abstract] [Full Text] [Related]
58. [Kearns-Sayre syndrome: a case report]. Gaboune L, Baha Ali T, Benfdil N, Khoumiri R, Ouaggag B, Sayouti A, Moutaouakil A. J Fr Ophtalmol; 2012 Nov 16; 35(9):718.e1-4. PubMed ID: 22981519 [Abstract] [Full Text] [Related]
59. Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient. Liu CH, Liou CW, Liu CH, Kuo HC, Chu CC, Huang CC. Acta Neurol Taiwan; 2011 Mar 16; 20(1):53-8. PubMed ID: 21249588 [Abstract] [Full Text] [Related]