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S Shanske

Showing results (11-20 of 141) with videos related to

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The Journal of Biological Chemistry|November 15, 1988
Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene familyS Sakoda, S Shanske, S DiMauro, et al.
American Journal of Medical Genetics|September 5, 1997
High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heartB Fromenty, R Carrozzo, S Shanske, et al.
Neurology|August 1, 1996
Diagnosis of McArdle's disease by molecular genetic analysis of bloodM el-Schahawi, S Tsujino, S Shanske, et al.
Human Mutation|January 1, 1994
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)S Tsujino, L A Rubin, S Shanske, et al.
Neurology|July 1, 1997
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutationF M Santorelli, K Tanji, S Shanske, et al.
Muscle & Nerve. Supplement|January 1, 1995
Biochemistry and molecular genetics of human glycogenoses: an overviewS DiMauro, S Tsujino, S Shanske, et al.
Stroke|August 1, 1996
Adult-onset MELAS. Evidence for involvement of neurons as well as cerebral vasculature in strokelike episodesJ M Gilchrist, M Sikirica, E Stopa, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 16, 1998
Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) geneJ D Goldstein, S Shanske, C Bruno, et al.
Human Molecular Genetics|June 1, 1994
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's diseaseS Tsujino, S Shanske, Y Goto, et al.
American Journal of Human Genetics|March 1, 1993
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiencyS Tsujino, S Shanske, S Sakoda, et al.
Pageof 15

Showing results (11-20 of 141) with videos related to

Sort By:
Pageof 15
The Journal of Biological Chemistry|November 15, 1988
Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene familyS Sakoda, S Shanske, S DiMauro, et al.
American Journal of Medical Genetics|September 5, 1997
High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heartB Fromenty, R Carrozzo, S Shanske, et al.
Neurology|August 1, 1996
Diagnosis of McArdle's disease by molecular genetic analysis of bloodM el-Schahawi, S Tsujino, S Shanske, et al.
Human Mutation|January 1, 1994
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)S Tsujino, L A Rubin, S Shanske, et al.
Neurology|July 1, 1997
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutationF M Santorelli, K Tanji, S Shanske, et al.
Muscle & Nerve. Supplement|January 1, 1995
Biochemistry and molecular genetics of human glycogenoses: an overviewS DiMauro, S Tsujino, S Shanske, et al.
Stroke|August 1, 1996
Adult-onset MELAS. Evidence for involvement of neurons as well as cerebral vasculature in strokelike episodesJ M Gilchrist, M Sikirica, E Stopa, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 16, 1998
Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) geneJ D Goldstein, S Shanske, C Bruno, et al.
Human Molecular Genetics|June 1, 1994
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's diseaseS Tsujino, S Shanske, Y Goto, et al.
American Journal of Human Genetics|March 1, 1993
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiencyS Tsujino, S Shanske, S Sakoda, et al.
Pageof 15