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S Shanske

Showing results (121-130 of 141) with videos related to

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Biochemical and Biophysical Research Communications|April 16, 1998
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotypeM L Huie, S Tsujino, S Sklower Brooks, et al.
American Journal of Human Genetics|August 12, 1999
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IVC Bruno, A Martinuzzi, Y Tang, et al.
Archives of Neurology|February 19, 2000
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle diseaseR Fernández, C Navarro, A L Andreu, et al.
Annals of Neurology|January 23, 1999
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuriaA L Andreu, C Bruno, T C Dunne, et al.
American Journal of Medical Genetics|June 1, 1994
Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorderJ L Van Hove, S Shanske, F Ciacci, et al.
Neurology|June 27, 2001
Surprises of genetic engineering: a possible model of polyglucosan body diseaseN Raben, M Danon, N Lu, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 20, 2004
No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutationM Deschauer, P F Chinnery, A M Schaefer, et al.
Neurology|September 12, 2000
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNAC L Karadimas, P Greenstein, C M Sue, et al.
Pediatric Research|May 1, 1996
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutationF M Santorelli, S C Mak, M E Vazquez-Memije, et al.
The Journal of Pediatrics|June 4, 1999
Infantile encephalopathy associated with the MELAS A3243G mutationC M Sue, C Bruno, A L Andreu, et al.
Pageof 15

Showing results (121-130 of 141) with videos related to

Sort By:
Pageof 15
Biochemical and Biophysical Research Communications|April 16, 1998
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotypeM L Huie, S Tsujino, S Sklower Brooks, et al.
American Journal of Human Genetics|August 12, 1999
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IVC Bruno, A Martinuzzi, Y Tang, et al.
Archives of Neurology|February 19, 2000
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle diseaseR Fernández, C Navarro, A L Andreu, et al.
Annals of Neurology|January 23, 1999
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuriaA L Andreu, C Bruno, T C Dunne, et al.
American Journal of Medical Genetics|June 1, 1994
Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorderJ L Van Hove, S Shanske, F Ciacci, et al.
Neurology|June 27, 2001
Surprises of genetic engineering: a possible model of polyglucosan body diseaseN Raben, M Danon, N Lu, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 20, 2004
No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutationM Deschauer, P F Chinnery, A M Schaefer, et al.
Neurology|September 12, 2000
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNAC L Karadimas, P Greenstein, C M Sue, et al.
Pediatric Research|May 1, 1996
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutationF M Santorelli, S C Mak, M E Vazquez-Memije, et al.
The Journal of Pediatrics|June 4, 1999
Infantile encephalopathy associated with the MELAS A3243G mutationC M Sue, C Bruno, A L Andreu, et al.
Pageof 15