Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Ichizo Nishino, Antonella Spinazzola, Michio Hirano · Science · 1999 · 892 citations

Mitochondrial Myopathy, Mendelian Disorder, Mitochondrial Function +14

Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

Douglas C. Wallace, Xianxian Zheng, Marie T. Lott et al. · Cell · 1988 · 571 citations

Mitochondrial Myopathy, Biochemical Characterization, Mendelian Disorder +11

Current protocols in human genetics

Gillian P. Bates · Trends in Genetics · 1995 · 484 citations

Genetic Analysis, Genetic Testing, Genetics +5

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Michio Hirano, Gabriella Silvestri, D. M. Blake et al. · Neurology · 1994 · 407 citations

Mitochondrial Myopathy, Neuromusculoskeletal Disorder, Peripheral Neuropathy +14

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

Ichizo Nishino, Antonella Spinazzola, Alexandros Papadimitriou et al. · Annals of Neurology · 2000 · 342 citations