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Columbia University (N.Y.)
New York
United States
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Akman, H Orhan; Aykit, Yavuz; Amuk, Ozge Ceren et al. (2016) Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. Neuromuscul Disord 26:16-20
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Cámara, Yolanda; González-Vioque, Emiliano; Scarpelli, Mauro et al. (2014) Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. Hum Mol Genet 23:2459-67
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Pfeffer, Gerald; Horvath, Rita; Klopstock, Thomas et al. (2013) New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol 9:474-81
Martí, Ramon; López, Luis C; Hirano, Michio (2012) Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol 837:121-33
Martí, Ramon; Dorado, Beatriz; Hirano, Michio (2012) Measurement of mitochondrial dNTP pools. Methods Mol Biol 837:135-48
Suomalainen, Anu; Elo, Jenni M; Pietiläinen, Kirsi H et al. (2011) FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol 10:806-18
Garone, Caterina; Tadesse, Saba; Hirano, Michio (2011) Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 134:3326-32

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