Diagnostic value of mitochondrial DNA analysis in Chronic Progressive External Ophthalmoplegia (CPEO);Bedeutung der mitochondrialen DNA-analyse in der diagnostik der chronisch-progressiven externen Ophthalmoplegie (CPEO)
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
Hayashi J, Ohta S, Kikuchi A et al. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci U S A 1991; 88: 10 614-10 618
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA
Mariotti C, Savarese N, Suomalainen A et al. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 1995; 242 (5): 304-312
Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis
Oct 13 (epub), in press
Okulla T, Kunz W, Klockgether T et al. Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis. Graef Arch Clin Exp, 2004, Oct 13 (epub), in press
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 et al. New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle. J Neuropathol Exp Neurol 2000; 59: 353-360