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Neurology|July 1, 1997
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutationF M Santorelli, K Tanji, S Shanske, et al.Seminars in Neurology|October 20, 2001
Diseases of oxidative phosphorylation due to mtDNA mutationsS DiMauro, A L Andreu, O Musumeci, et al.Journal of Child Neurology|March 1, 2000
HyperCKemia as the only sign of McArdle's disease in a childC Bruno, E Bertini, F M Santorelli, et al.Neurology|August 1, 1996
Diagnosis of McArdle's disease by molecular genetic analysis of bloodM el-Schahawi, S Tsujino, S Shanske, et al.Biochimica Et Biophysica Acta|December 10, 1992
Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCRS Simonetti, X Chen, S DiMauro, et al.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.Pageof 44