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S Dimauro

Showing results (121-130 of 421) with videos related to

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Neurology|November 1, 1979
Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heartA F Miranda, E G Nette, P L Hartlage, et al.
Neurology|October 1, 1983
Congenital myopathy due to phosphorylase deficiencyF Cornelio, N Bresolin, S DiMauro, et al.
American Journal of Diseases of Children (1960)|July 1, 1982
Encephalopathy and fatal myopathy in two siblings. Their association with partial deficiency of muscle carnitineD Parker, A W Root, S Schimmel, et al.
Biochimica Et Biophysica Acta|August 26, 1998
Mitochondria in neuromuscular disordersS DiMauro, E Bonilla, M Davidson, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horsesS J Valberg, G H Cardinet, G P Carlson, et al.
The Journal of Pediatrics|November 1, 1982
Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transportL J Waber, D Valle, C Neill, et al.
Annals of Neurology|June 1, 1985
Mitochondrial myopathiesS DiMauro, E Bonilla, M Zeviani, et al.
Seminars in Perinatology|May 20, 1999
Neonatal presentations of mitochondrial metabolic disordersC M Sue, M Hirano, S DiMauro, et al.
Human Mutation|January 1, 1995
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)S Tsujino, S Shanske, A Martinuzzi, et al.
Neurology|October 22, 1998
Mitochondrial DNA depletion in a patient with long survivalT H Vu, K Tanji, H Valsamis, et al.
Pageof 43

Showing results (121-130 of 421) with videos related to

Sort By:
Pageof 43
Neurology|November 1, 1979
Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heartA F Miranda, E G Nette, P L Hartlage, et al.
Neurology|October 1, 1983
Congenital myopathy due to phosphorylase deficiencyF Cornelio, N Bresolin, S DiMauro, et al.
American Journal of Diseases of Children (1960)|July 1, 1982
Encephalopathy and fatal myopathy in two siblings. Their association with partial deficiency of muscle carnitineD Parker, A W Root, S Schimmel, et al.
Biochimica Et Biophysica Acta|August 26, 1998
Mitochondria in neuromuscular disordersS DiMauro, E Bonilla, M Davidson, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horsesS J Valberg, G H Cardinet, G P Carlson, et al.
The Journal of Pediatrics|November 1, 1982
Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transportL J Waber, D Valle, C Neill, et al.
Annals of Neurology|June 1, 1985
Mitochondrial myopathiesS DiMauro, E Bonilla, M Zeviani, et al.
Seminars in Perinatology|May 20, 1999
Neonatal presentations of mitochondrial metabolic disordersC M Sue, M Hirano, S DiMauro, et al.
Human Mutation|January 1, 1995
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)S Tsujino, S Shanske, A Martinuzzi, et al.
Neurology|October 22, 1998
Mitochondrial DNA depletion in a patient with long survivalT H Vu, K Tanji, H Valsamis, et al.
Pageof 43