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S Shanske

Showing results (81-90 of 141) with videos related to

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Neurology|June 1, 1985
Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscleN Bresolin, M Zeviani, E Bonilla, et al.
American Journal of Medical Genetics|April 15, 1994
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)G M Pastores, F M Santorelli, S Shanske, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndromeM E Vazquez-Memije, S Shanske, F M Santorelli, et al.
The Journal of Biological Chemistry|September 15, 1989
Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutaseS Tsujino, S Sakoda, R Mizuno, et al.
Neurology|February 1, 1997
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmyM el-Schahawi, A López de Munain, A M Sarrazin, et al.
American Journal of Human Genetics|April 25, 2000
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathyO Musumeci, A L Andreu, S Shanske, et al.
The Journal of Biological Chemistry|November 10, 1982
Antifolate-resistant Chinese Hamster Cells. mRNA directed overproduction of multiple dihydrofolate reductases from a series of independently derived sublines containing amplified dihydrofolate reductase genesP W Melera, C A Hession, J P Davide, et al.
Journal of the Neurological Sciences|August 18, 1999
Molecular characterization of McArdle's disease in two large Finnish familiesC Bruno, M Löfberg, L Tamburino, et al.
Neuromuscular Disorders : NMD|January 1, 1993
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNAC T Moraes, F Ciacci, G Silvestri, et al.
Journal of the Neurological Sciences|December 1, 1992
Correlation between clinical and molecular features in two MELAS familiesA Martinuzzi, L Bartolomei, R Carrozzo, et al.
Pageof 15

Showing results (81-90 of 141) with videos related to

Sort By:
Pageof 15
Neurology|June 1, 1985
Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscleN Bresolin, M Zeviani, E Bonilla, et al.
American Journal of Medical Genetics|April 15, 1994
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)G M Pastores, F M Santorelli, S Shanske, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndromeM E Vazquez-Memije, S Shanske, F M Santorelli, et al.
The Journal of Biological Chemistry|September 15, 1989
Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutaseS Tsujino, S Sakoda, R Mizuno, et al.
Neurology|February 1, 1997
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmyM el-Schahawi, A López de Munain, A M Sarrazin, et al.
American Journal of Human Genetics|April 25, 2000
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathyO Musumeci, A L Andreu, S Shanske, et al.
The Journal of Biological Chemistry|November 10, 1982
Antifolate-resistant Chinese Hamster Cells. mRNA directed overproduction of multiple dihydrofolate reductases from a series of independently derived sublines containing amplified dihydrofolate reductase genesP W Melera, C A Hession, J P Davide, et al.
Journal of the Neurological Sciences|August 18, 1999
Molecular characterization of McArdle's disease in two large Finnish familiesC Bruno, M Löfberg, L Tamburino, et al.
Neuromuscular Disorders : NMD|January 1, 1993
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNAC T Moraes, F Ciacci, G Silvestri, et al.
Journal of the Neurological Sciences|December 1, 1992
Correlation between clinical and molecular features in two MELAS familiesA Martinuzzi, L Bartolomei, R Carrozzo, et al.
Pageof 15