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S Shanske

Showing results (91-100 of 141) with videos related to

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American Journal of Human Genetics|March 1, 1991
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseasesC T Moraes, S Shanske, H J Tritschler, et al.
Neurology|October 22, 1998
Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylaseS M Gospe, M El-Schahawi, S Shanske, et al.
Muscle & Nerve|July 1, 1995
Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattleS Angelos, S J Valberg, B P Smith, et al.
Journal of Inherited Metabolic Disease|December 22, 1999
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variationS L White, S Shanske, J J McGill, et al.
Journal of Child Neurology|December 7, 2000
G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndromeA Shtilbans, S Shanske, S Goodman, et al.
American Journal of Human Genetics|May 1, 1996
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A)F M Santorelli, S C Mak, M El-Schahawi, et al.
Annals of Neurology|August 1, 1997
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp geneF M Santorelli, K Tanji, M Sano, et al.
Annals of Neurology|June 1, 1993
Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNAW D Graf, S M Sumi, M K Copass, et al.
Annals of Neurology|December 16, 1998
The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the pastF M Santorelli, K Tanji, S Shanske, et al.
American Journal of Human Genetics|July 27, 1999
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993S L White, V R Collins, R Wolfe, et al.
Pageof 15

Showing results (91-100 of 141) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|March 1, 1991
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseasesC T Moraes, S Shanske, H J Tritschler, et al.
Neurology|October 22, 1998
Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylaseS M Gospe, M El-Schahawi, S Shanske, et al.
Muscle & Nerve|July 1, 1995
Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattleS Angelos, S J Valberg, B P Smith, et al.
Journal of Inherited Metabolic Disease|December 22, 1999
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variationS L White, S Shanske, J J McGill, et al.
Journal of Child Neurology|December 7, 2000
G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndromeA Shtilbans, S Shanske, S Goodman, et al.
American Journal of Human Genetics|May 1, 1996
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A)F M Santorelli, S C Mak, M El-Schahawi, et al.
Annals of Neurology|August 1, 1997
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp geneF M Santorelli, K Tanji, M Sano, et al.
Annals of Neurology|June 1, 1993
Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNAW D Graf, S M Sumi, M K Copass, et al.
Annals of Neurology|December 16, 1998
The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the pastF M Santorelli, K Tanji, S Shanske, et al.
American Journal of Human Genetics|July 27, 1999
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993S L White, V R Collins, R Wolfe, et al.
Pageof 15