Concepedia

mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency

Ann Saada, Avraham Shaag, Orly Elpeleg

Molecular Genetics and Metabolism · 2003 · 95 citations · 18 references

DOI

Concepts

References

18

A MICROSPECTROPHOTOMETRIC METHOD FOR THE DETERMINATION OF CYTOCHROME OXIDASE

S.J. Cooperstein, Arnold Lazarow · Journal of Biological Chemistry · 1951 · 1.4K citations · Full text

, , +5

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Ichizo Nishino, Antonella Spinazzola, Michio Hirano · Science · 1999 · 900 citations

, , +17

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

P. G. Barth, H.R. Scholte, J.A. Berden et al. · Journal of the Neurological Sciences · 1983 · 701 citations

, , +17

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Ann Saada, Avraham Shaag, Hanna Mandel et al. · Nature Genetics · 2001 · 621 citations

, , +14

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Carlos T. Moraes, Sara Shanske, Hans Tritschler et al. · PubMed · 1991 · 590 citations

, , +16