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678 related items for PubMed ID: 2541333
1. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, Servidei S. N Engl J Med; 1989 May 18; 320(20):1293-9. PubMed ID: 2541333 [Abstract] [Full Text] [Related]
2. [Mitochondrial disease and complete heart block. Kearns-Sayre syndrome. Description of a case]. Perocchio M, Tomassini B, Biasia R, Belli Valletta M, Cerutti A, Bobba F. Minerva Med; 1992 Dec 18; 83(12 Suppl 1):7-13. PubMed ID: 1300476 [Abstract] [Full Text] [Related]
3. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Moslemi AR, Melberg A, Holme E, Oldfors A. Ann Neurol; 1996 Nov 18; 40(5):707-13. PubMed ID: 8957011 [Abstract] [Full Text] [Related]
4. Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy. Zanssen S, Molnar M, Buse G, Schröder JM. Clin Neuropathol; 1998 Nov 18; 17(6):291-6. PubMed ID: 9832255 [Abstract] [Full Text] [Related]
5. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Holt IJ, Harding AE, Cooper JM, Schapira AH, Toscano A, Clark JB, Morgan-Hughes JA. Ann Neurol; 1989 Dec 18; 26(6):699-708. PubMed ID: 2604380 [Abstract] [Full Text] [Related]
6. [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]
7. [Mitochondrial DNA deletions in Kearns-Sayre syndrome]. Carod-Artal FJ, Lopez Gallardo E, Solano A, Dahmani Y, Herrero MD, Montoya J. Neurologia; 2006 Sep 01; 21(7):357-64. PubMed ID: 16977556 [Abstract] [Full Text] [Related]
8. Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications. Johnson MA, Bindoff LA, Turnbull DM. Ann Neurol; 1993 Jan 01; 33(1):28-35. PubMed ID: 8388186 [Abstract] [Full Text] [Related]
9. Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies. Zeviani M, Gellera C, Pannacci M, Uziel G, Prelle A, Servidei S, DiDonato S. Ann Neurol; 1990 Jul 01; 28(1):94-7. PubMed ID: 2375642 [Abstract] [Full Text] [Related]
10. Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. Reichmann H, Degoul F, Gold R, Meurers B, Ketelsen UP, Hartmann J, Marsac C, Lestienne P. Eur Neurol; 1991 Jul 01; 31(2):108-13. PubMed ID: 1646110 [Abstract] [Full Text] [Related]
11. [Progressive external ophthalmoplegia of mitochondrial origin: contribution of morphological and molecular studies]. Laforêt P, Eymard B, Danan C, Chevallay M, Rouche A, Frachon P, Fardeau M, Lombès A. Rev Neurol (Paris); 1997 Feb 01; 153(1):51-8. PubMed ID: 9296156 [Abstract] [Full Text] [Related]
12. Segmental cytochrome c-oxidase deficiency in CPEO: teased muscle fiber analysis. Matsuoka T, Goto Y, Hasegawa H, Nonaka I. Muscle Nerve; 1992 Feb 01; 15(2):209-13. PubMed ID: 1312676 [Abstract] [Full Text] [Related]
13. [Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome]. Capková M, Tesarová M, Wenchich L, Cerná L, Hansíková H, Hůlková H, Hrubá E, Elleder M, Zeman J. Cas Lek Cesk; 2002 Feb 01; 141(2):51-4. PubMed ID: 11925663 [Abstract] [Full Text] [Related]
14. Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies. Gerbitz KD, Obermaier-Kusser B, Lestienne P, Zierz S, Müller-Höcker J, Pongratz D, Paetzke-Brunner I, Deufel T. J Clin Chem Clin Biochem; 1990 Apr 01; 28(4):241-50. PubMed ID: 2162908 [Abstract] [Full Text] [Related]
15. [Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome]. Wang ZX, Yuan Y, Gao F, Qi Y, Shen DG, Chen QT. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Aug 01; 20(4):273-8. PubMed ID: 12903032 [Abstract] [Full Text] [Related]
16. Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes. Gerbitz KD, Obermaier-Kusser B, Zierz S, Pongratz D, Müller-Höcker J, Lestienne P. J Neurol; 1990 Feb 01; 237(1):5-10. PubMed ID: 2156958 [Abstract] [Full Text] [Related]
17. 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 01; 101(2):168-77. PubMed ID: 1851820 [Abstract] [Full Text] [Related]
18. Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy. Kosmorsky G, Johns DR. Neurol Clin; 1991 Feb 01; 9(1):147-61. PubMed ID: 2011107 [No Abstract] [Full Text] [Related]
19. Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome. Nelson I, Degoul F, Obermaier-Kusser B, Romero N, Borrone C, Marsac C, Vayssiere JL, Gerbitz K, Fardeau M, Ponsot G, Lestienne P. Nucleic Acids Res; 1989 Oct 25; 17(20):8117-24. PubMed ID: 2813058 [Abstract] [Full Text] [Related]
20. [Ophthalmoplegia-plus: clinical variability, biochemical defects of the mitochondria respiratory chain and deletions of the mitochondria genome]. Zierz S, von Wersebe O, Gerbitz KD, Jerusalem F. Nervenarzt; 1990 Jun 25; 61(6):332-9. PubMed ID: 2377259 [No Abstract] [Full Text] [Related] Page: [Next] [New Search]