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The Neurologist|January 15, 2004
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomesMichio Hirano, Yutaka Nishigaki, Ramon Martí
Biochemical and Biophysical Research Communications|March 21, 2003
Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiencyRamon Martí, Yutaka Nishigaki, Michio Hirano
Methods in Molecular Biology (Clifton, N.J.)|January 5, 2012
Measurement of mitochondrial dNTP poolsRamon Martí, Beatriz Dorado, Michio Hirano
Methods in Molecular Biology (Clifton, N.J.)|January 5, 2012
Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activityRamon Martí, Luis C López, Michio Hirano
The Journal of Clinical Investigation|June 19, 2003
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiencyYutaka Nishigaki, Ramon Martí, William C Copeland, et al.
Clinical Chemistry and Laboratory Medicine|August 28, 2003
Alteration of nucleotide metabolism: a new mechanism for mitochondrial disordersRamon Martí, Yutaka Nishigaki, Maya R Vilá, et al.
Plos Genetics|April 13, 2011
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Emiliano González-Vioque, Javier Torres-Torronteras, Antoni L Andreu, et al.
Clinical Chemistry|November 25, 2003
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assaysRamon Martí, Antonella Spinazzola, Saba Tadesse, et al.
Gene|June 25, 2005
Thymidine phosphorylase mutations cause instability of mitochondrial DNAMichio Hirano, Clotilde Lagier-Tourenne, Maria L Valentino, et al.
Drug Discovery Today|July 3, 2013
Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNAYolanda Cámara, Emiliano González-Vioque, Mauro Scarpelli, et al.
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