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American Journal of Human Genetics|May 1, 1995
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitusH Hao, E Bonilla, G Manfredi, et al.Muscle & Nerve|September 1, 1984
Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzymeN Bresolin, A Miranda, H W Chang, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblastsI Tein, S DiMauro, Z W Xie, et al.Metabolism: Clinical and Experimental|August 1, 1977
Carbohydrate metabolism in hypothyroid myopathyH G McDaniel, C S Pittman, S J Oh, et al.Science (New York, N.Y.)|June 12, 1981
Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathyS DiMauro, A F Miranda, S Khan, et al.American Journal of Diseases of Children (1960)|June 1, 1985
X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardationJ P Keating, B I Brown, N H White, et al.Proceedings of the National Academy of Sciences of the United States of America|December 1, 1989
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndromeS Mita, B Schmidt, E A Schon, et al.Archives of Neurology|January 14, 2000
Amyotrophy in prion diseasesB B Worrall, L P Rowland, S S Chin, et al.Archives of Neurology|May 1, 1988
Granulomatous angiitis of the brain. An inflammatory reaction of diverse etiologyD S Younger, A P Hays, J C Brust, et al.Neurology|May 1, 1992
Dystrophinopathy in isolated cases of myopathy in femalesE P Hoffman, K Arahata, C Minetti, et al.Pageof 44