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S Dimauro

Showing results (141-150 of 421) with videos related to

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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.
Muscle & Nerve|January 1, 1978
Adult-onset acid maltase deficiency: a postmortem studyS DiMauro, L Z Stern, M Mehler, et al.
Archives of Neurology|September 1, 1986
Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentrationH Reichmann, R Rohkamm, M Zeviani, et al.
The New England Journal of Medicine|March 11, 1976
Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscleV Askanas, W K Engel, S DiMauro, et al.
Molecular Genetics and Metabolism|May 18, 1999
Polymorphic variants in the human mitochondrial cytochrome b geneA L Andreu, C Bruno, G M Hadjigeorgiou, et al.
Annals of Neurology|March 11, 1999
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar systemK Tanji, T H Vu, E A Schon, et al.
Annals of Neurology|December 1, 1993
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeF M Santorelli, S Shanske, A Macaya, et al.
Neurology|June 1, 1982
Muscle phosphoglycerate mutase deficiencyS DiMauro, A F Miranda, M Olarte, et al.
Pageof 43

Showing results (141-150 of 421) with videos related to

Sort By:
Pageof 43
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.
Muscle & Nerve|January 1, 1978
Adult-onset acid maltase deficiency: a postmortem studyS DiMauro, L Z Stern, M Mehler, et al.
Archives of Neurology|September 1, 1986
Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentrationH Reichmann, R Rohkamm, M Zeviani, et al.
The New England Journal of Medicine|March 11, 1976
Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscleV Askanas, W K Engel, S DiMauro, et al.
Molecular Genetics and Metabolism|May 18, 1999
Polymorphic variants in the human mitochondrial cytochrome b geneA L Andreu, C Bruno, G M Hadjigeorgiou, et al.
Annals of Neurology|March 11, 1999
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar systemK Tanji, T H Vu, E A Schon, et al.
Annals of Neurology|December 1, 1993
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeF M Santorelli, S Shanske, A Macaya, et al.
Neurology|June 1, 1982
Muscle phosphoglycerate mutase deficiencyS DiMauro, A F Miranda, M Olarte, et al.
Pageof 43