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Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
Mancuso M, Salviati L, Sacconi S, Otaegui D, Camaño P, Marina A, Bacman S, Moraes CT, Carlo JR, Garcia M, Garcia-Alvarez M, Monzon L, Naini AB, Hirano M, Bonilla E, Taratuto AL, DiMauro S, Vu TH. Mancuso M, et al. Among authors: marina a. Neurology. 2002 Oct 22;59(8):1197-202. doi: 10.1212/01.wnl.0000028689.93049.9a. Neurology. 2002. PMID: 12391347
Reversion of mtDNA depletion in a patient with TK2 deficiency.
Vilà MR, Segovia-Silvestre T, Gámez J, Marina A, Naini AB, Meseguer A, Lombès A, Bonilla E, DiMauro S, Hirano M, Andreu AL. Vilà MR, et al. Among authors: marina a. Neurology. 2003 Apr 8;60(7):1203-5. doi: 10.1212/01.wnl.0000055928.58122.47. Neurology. 2003. PMID: 12682338
Mitochondrial DNA depletion and dGK gene mutations.
Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH. Salviati L, et al. Among authors: marina a. Ann Neurol. 2002 Sep;52(3):311-7. doi: 10.1002/ana.10284. Ann Neurol. 2002. PMID: 12205643
280 results