References
- Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689–92.
- Marti R, Spinazzola A, Tadesse S, Nishino I, Nishigaki Y, Hirano M. Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem 2004;50:120–4.
- Hirano M, Nishigaki Y, Marti R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist 2004;10:8–17.
- Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721–7.
- Okamura K, Santa T, Nagae K, Omae T. Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria. J Neurol Sci 1976;27:79–91.
- Nadol JBJ, Merchant SN. Histopathology and molecular genetics of hearing loss in the human. Int J Pediatr Otorhinolaryngol 2001;61:1–15.
- Dallos P, Evans BN. High frequency motility of outer hair cells and the cochlear amplifier. Science 1995;267:2006–9.
- Donovan T. Mitochondrial encephalomyopathy: a rare genetic cause of sensorineural hearing loss. Ann Otol Rhinol Laryngol 1995;104:786–91.
- Marti R, Nishigaki Y, Hirano M. Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. Biochem Biophys Res Commun 2003;303:14–18.
- Millar WS, Lignelli A, Hirano M. MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy. AJR Am J Roentgenol 2004;182:1537–41.
- Tamagawa Y, Kitamura K, Hagiwara H, Ishida T, Nishizawa M, Saito T, Audiologic findings in patients with a point mutation at nucleotide 3243 of mitochondrial DNA. Ann Otol Rhinol Laryngol 1997;106:338–42.
- Yasumura S, Aso S, Fujisaka M, Watanabe Y. Cochlear implantation in a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome. Acta Otolaryngol 2003;123:55–8.
- Karkos PD, Anari S, Johnson IJ. Cochlear implantation in patients with MELAS syndrome. Eur Arch Otorhinolaryngol 2005;262:322–4.
- Hill D, Wintersgill S, Scott L, Cadge B, Graham J. Cochlear implantation in a profoundly deaf patient with MELAS syndrome. J Neurol Neurosurg Psychiatry 2001;71:228–3.
- Rosenthal EL, Kileny PR, Boerst A, Telian SA. Succesful cochlear implantation in a patient with MELAS syndrome. Am J Otol 1999;20:187–91.
- Sue CM, Lipsett LJ, Crimmins DS, Tsang CS, Boyages SC, Presgrave CM, Cochlear origin of hearing loss in MELAS syndrome. Ann Neurol 1998;43:350–9.