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 Dimauro

Showing results (101-110 of 421) with videos related to

Pageof 43
Sort By:
Journal of Child Neurology|June 27, 2000
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuriaC Bruno, M Bado, C Minetti, et al.
Brain Pathology (Zurich, Switzerland)|October 1, 1993
Cytochrome C oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: immunohistochemical studyM Sparaco, A Hirano, M Hirano, 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.
Neurology|May 1, 1989
Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutationA F Miranda, S Ishii, S DiMauro, et al.
Archives of Neurology|April 1, 1985
Immunocytochemical analysis of normal and acid maltase-deficient muscle culturesA F Miranda, S Shanske, A P Hays, et al.
Neurology|September 1, 1973
Thyrotoxic periodic paralysis. Function of sarcoplasmic reticulum and muscle glycogenA Takagi, D L Schotland, S DiMauro, et al.
Annals of Neurology|March 1, 1977
The adult form of acid maltase (alpha-1,4-glucosidase) deficiencyG Karpati, S Carpenter, A Eisen, 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.
Pediatric Research|October 1, 1981
Mucolipidosis II (I-cell disease): studies of muscle biopsy and muscle culturesS Shanske, A F Miranda, A S Penn, et al.
Muscle & Nerve. Supplement|January 1, 1995
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiencyS Tsujino, S Shanske, S Sakoda, et al.
Pageof 43

Showing results (101-110 of 421) with videos related to

Sort By:
Pageof 43
Journal of Child Neurology|June 27, 2000
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuriaC Bruno, M Bado, C Minetti, et al.
Brain Pathology (Zurich, Switzerland)|October 1, 1993
Cytochrome C oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: immunohistochemical studyM Sparaco, A Hirano, M Hirano, 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.
Neurology|May 1, 1989
Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutationA F Miranda, S Ishii, S DiMauro, et al.
Archives of Neurology|April 1, 1985
Immunocytochemical analysis of normal and acid maltase-deficient muscle culturesA F Miranda, S Shanske, A P Hays, et al.
Neurology|September 1, 1973
Thyrotoxic periodic paralysis. Function of sarcoplasmic reticulum and muscle glycogenA Takagi, D L Schotland, S DiMauro, et al.
Annals of Neurology|March 1, 1977
The adult form of acid maltase (alpha-1,4-glucosidase) deficiencyG Karpati, S Carpenter, A Eisen, 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.
Pediatric Research|October 1, 1981
Mucolipidosis II (I-cell disease): studies of muscle biopsy and muscle culturesS Shanske, A F Miranda, A S Penn, et al.
Muscle & Nerve. Supplement|January 1, 1995
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiencyS Tsujino, S Shanske, S Sakoda, et al.
Pageof 43