Concepedia

A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Jutatip Kintarak, Teerin Liewluck, Tumtip Sangruchi, Michio Hirano, Kongkiat Kulkantrakorn, Sombat Muengtaweepongsa

Clinical Neurology and Neurosurgery · 2007 · 12 citations · 20 references

Concepts

Life SciencesGeneticsMolecular GeneticsMitochondrial BiologyMitochondrial GeneticsNeurogeneticsMitochondrial DiseaseMitochondrial DisordersMitochondrial DysfunctionMitochondrial Neurological DisordersNeurogenetic DisordersMitochondrial Disease GeneticsMitochondrial Disease-associated VariantsMitochondrial EncephalomyopathyMitochondrial Gene VariantsMitochondrial Neurogastrointestinal EncephalomyopathyMitochondrial NeuropathologyMitochondrial Syndromes

References

20

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

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

Life Sciences, Genetics, Molecular Genetics +17

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

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

Life Sciences, Neurology, Neuroscience +17

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

Ichizo Nishino, Antonella Spinazzola, Alexandros Papadimitriou et al. · Annals of Neurology · 2000 · 343 citations

Life Sciences, Genetics, Neurology +17

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase

Antonella Spinazzola, Ramón Martí, Ichizo Nishino et al. · Journal of Biological Chemistry · 2002 · 236 citations · Full text

Life Sciences, Biochemistry, Genetics +16

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

Yutaka Nishigaki, Ramón Martí, William C. Copeland et al. · Journal of Clinical Investigation · 2003 · 186 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17