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Journal Abstract Search
210 related items for PubMed ID: 8064307
1. Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile. Fassati A, Bordoni A, Amboni P, Fortunato F, Fagiolari G, Bresolin N, Prelle A, Comi G, Scarlato G. J Neurol Sci; 1994 May; 123(1-2):140-6. PubMed ID: 8064307 [Abstract] [Full Text] [Related]
2. Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Mita S, Schmidt B, Schon EA, DiMauro S, Bonilla E. Proc Natl Acad Sci U S A; 1989 Dec; 86(23):9509-13. PubMed ID: 2556715 [Abstract] [Full Text] [Related]
3. Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia. Kiyomoto BH, Tengan CH, Moraes CT, Oliveira AS, Gabbai AA. J Neurol Sci; 1997 Nov 25; 152(2):160-5. PubMed ID: 9415537 [Abstract] [Full Text] [Related]
4. 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 25; 110(1-2):169-77. PubMed ID: 1324295 [Abstract] [Full Text] [Related]
5. Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. Goto Y, Koga Y, Horai S, Nonaka I. J Neurol Sci; 1990 Dec 25; 100(1-2):63-9. PubMed ID: 1965208 [Abstract] [Full Text] [Related]
6. Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. Laforêt P, Lombès A, Eymard B, Danan C, Chevallay M, Rouche A, Frachon P, Fardeau M. Neuromuscul Disord; 1995 Sep 25; 5(5):399-413. PubMed ID: 7496174 [Abstract] [Full Text] [Related]
7. [Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases]. Barrientos A, Casademont J, Grau JM, Cardellach F, Montoya J, Estivill X, Urbano-Márquez A, Nunes V. Med Clin (Barc); 1995 Jul 01; 105(5):180-4. PubMed ID: 7630231 [Abstract] [Full Text] [Related]
8. Quantitative analysis of mitochondrial DNA deletion in paraffin embedded muscle tissues from patients with KSS and CPEO. Kim SH, Chi JG, Reith A, Kadenbach B. Biochim Biophys Acta; 1997 May 24; 1360(3):193-5. PubMed ID: 9197460 [Abstract] [Full Text] [Related]
9. 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 24; 59(5):353-60. PubMed ID: 10888364 [Abstract] [Full Text] [Related]
11. The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions. Zhao Y, Hou Y, Zhao X, Liufu T, Yu M, Zhang W, Xie Z, Zhang VW, Yuan Y, Wang Z. Mol Genet Genomic Med; 2024 Jan 24; 12(1):e2328. PubMed ID: 38018320 [Abstract] [Full Text] [Related]
14. Accumulation of mitochondrial DNA deletions in myotubes cultured from muscles of patients with mitochondrial myopathies. Collombet JM, Mandon G, Dumoulin R, Mousson B, Stepien G. Mol Gen Genet; 1996 Nov 27; 253(1-2):182-8. PubMed ID: 9003302 [Abstract] [Full Text] [Related]
15. Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies. Degoul F, Nelson I, Lestienne P, Francois D, Romero N, Duboc D, Eymard B, Fardeau M, Ponsot G, Paturneau-Jouas M. J Neurol Sci; 1991 Feb 27; 101(2):168-77. PubMed ID: 1851820 [Abstract] [Full Text] [Related]
16. 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 27; 86(20):7952-6. PubMed ID: 2554297 [Abstract] [Full Text] [Related]
17. Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications. Johnson MA, Bindoff LA, Turnbull DM. Ann Neurol; 1993 Jan 27; 33(1):28-35. PubMed ID: 8388186 [Abstract] [Full Text] [Related]
18. Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Sciacco M, Bonilla E, Schon EA, DiMauro S, Moraes CT. Hum Mol Genet; 1994 Jan 27; 3(1):13-9. PubMed ID: 8162014 [Abstract] [Full Text] [Related]
19. Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. Kierdaszuk B, Kaliszewska M, Rusecka J, Kosińska J, Bartnik E, Tońska K, Kamińska AM, Kostera-Pruszczyk A. Genes (Basel); 2020 Dec 31; 12(1):. PubMed ID: 33396418 [Abstract] [Full Text] [Related]