Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

S Shanske

Showing results (61-70 of 141) with videos related to

Pageof 15
Sort By:
Neurology|November 1, 1990
Kearns-Sayre syndrome presenting as renal tubular acidosisL Eviatar, S Shanske, B Gauthier, et al.
Archives of Neurology|March 1, 1993
The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without strokeR K Mosewich, J R Donat, S DiMauro, et al.
American Journal of Medical Genetics|December 1, 1986
Metabolic myopathiesS DiMauro, A F Miranda, S Sakoda, et al.
Neurology|April 1, 1995
High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathyG Manfredi, S Servidei, E Bonilla, et al.
Neuromuscular Disorders : NMD|March 1, 1997
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiencyM el-Schahawi, C Bruno, S Tsujino, et al.
Journal of Inherited Metabolic Disease|December 31, 1998
Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutationsM E Vázquez-Memije, S Shanske, F M Santorelli, et al.
The Journal of Pediatrics|March 1, 1993
Maternally inherited Leigh syndromeE Ciafaloni, F M Santorelli, S Shanske, et al.
Neurology|February 1, 1993
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)P Tonin, S Shanske, A F Miranda, et al.
Neurology|March 4, 1998
Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletionsD T Blumenthal, S Shanske, S S Schochet, et al.
Neuromuscular Disorders : NMD|June 26, 1999
A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's diseaseA L Andreu, C Bruno, L Tamburino, et al.
Pageof 15

Showing results (61-70 of 141) with videos related to

Sort By:
Pageof 15
Neurology|November 1, 1990
Kearns-Sayre syndrome presenting as renal tubular acidosisL Eviatar, S Shanske, B Gauthier, et al.
Archives of Neurology|March 1, 1993
The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without strokeR K Mosewich, J R Donat, S DiMauro, et al.
American Journal of Medical Genetics|December 1, 1986
Metabolic myopathiesS DiMauro, A F Miranda, S Sakoda, et al.
Neurology|April 1, 1995
High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathyG Manfredi, S Servidei, E Bonilla, et al.
Neuromuscular Disorders : NMD|March 1, 1997
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiencyM el-Schahawi, C Bruno, S Tsujino, et al.
Journal of Inherited Metabolic Disease|December 31, 1998
Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutationsM E Vázquez-Memije, S Shanske, F M Santorelli, et al.
The Journal of Pediatrics|March 1, 1993
Maternally inherited Leigh syndromeE Ciafaloni, F M Santorelli, S Shanske, et al.
Neurology|February 1, 1993
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)P Tonin, S Shanske, A F Miranda, et al.
Neurology|March 4, 1998
Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletionsD T Blumenthal, S Shanske, S S Schochet, et al.
Neuromuscular Disorders : NMD|June 26, 1999
A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's diseaseA L Andreu, C Bruno, L Tamburino, et al.
Pageof 15