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S Shanske

Showing results (101-110 of 141) with videos related to

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Journal of Pediatric Endocrinology & Metabolism : JPEM|July 7, 1999
Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature reviewM E Damore, P W Speiser, A E Slonim, et al.
Annals of Neurology|January 1, 1993
Glycogen branching enzyme deficiency in adult polyglucosan body diseaseC Bruno, S Servidei, S Shanske, et al.
Nucleic Acids Research|February 11, 1990
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNAS Mita, R Rizzuto, C T Moraes, et al.
Neurology|October 16, 1999
Myophosphorylase gene transfer in McArdle's disease myoblasts in vitroG Pari, M M Crerar, J Nalbantoglu, et al.
Annals of Neurology|April 1, 1992
MELAS: clinical features, biochemistry, and molecular geneticsE Ciafaloni, E Ricci, S Shanske, et al.
Neurology|January 1, 1990
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndromeS Shanske, C T Moraes, A Lombes, et al.
Neuromuscular Disorders : NMD|November 2, 1999
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) geneG M Hadjigeorgiou, N Kawashima, C Bruno, et al.
Journal of Inherited Metabolic Disease|May 19, 1998
Primary adrenal insufficiency in a child with a mitochondrial DNA deletionC Bruno, C Minetti, Y Tang, et al.
Muscle & Nerve|October 15, 1998
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reactionM Sciacco, P Gasparo-Rippa, T H Vu, et al.
Journal of the Neurological Sciences|April 1, 1996
Molecular characterization of myophosphorylase deficiency in a group of patients from northern ItalyA Martinuzzi, S Tsujino, L Vergani, et al.
Pageof 15

Showing results (101-110 of 141) with videos related to

Sort By:
Pageof 15
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 7, 1999
Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature reviewM E Damore, P W Speiser, A E Slonim, et al.
Annals of Neurology|January 1, 1993
Glycogen branching enzyme deficiency in adult polyglucosan body diseaseC Bruno, S Servidei, S Shanske, et al.
Nucleic Acids Research|February 11, 1990
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNAS Mita, R Rizzuto, C T Moraes, et al.
Neurology|October 16, 1999
Myophosphorylase gene transfer in McArdle's disease myoblasts in vitroG Pari, M M Crerar, J Nalbantoglu, et al.
Annals of Neurology|April 1, 1992
MELAS: clinical features, biochemistry, and molecular geneticsE Ciafaloni, E Ricci, S Shanske, et al.
Neurology|January 1, 1990
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndromeS Shanske, C T Moraes, A Lombes, et al.
Neuromuscular Disorders : NMD|November 2, 1999
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) geneG M Hadjigeorgiou, N Kawashima, C Bruno, et al.
Journal of Inherited Metabolic Disease|May 19, 1998
Primary adrenal insufficiency in a child with a mitochondrial DNA deletionC Bruno, C Minetti, Y Tang, et al.
Muscle & Nerve|October 15, 1998
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reactionM Sciacco, P Gasparo-Rippa, T H Vu, et al.
Journal of the Neurological Sciences|April 1, 1996
Molecular characterization of myophosphorylase deficiency in a group of patients from northern ItalyA Martinuzzi, S Tsujino, L Vergani, et al.
Pageof 15