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Page 1
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Domínguez-González C, et al. Among authors: hirano m. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17. Ann Neurol. 2019. PMID: 31125140 Free PMC article.
MELAS: clinical features, biochemistry, and molecular genetics.
Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, et al. Ciafaloni E, et al. Among authors: hirano m. Ann Neurol. 1992 Apr;31(4):391-8. doi: 10.1002/ana.410310408. Ann Neurol. 1992. PMID: 1586140
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimarães J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M. Nishino I, et al. Among authors: hirano i, hirano m. Ann Neurol. 2000 Jun;47(6):792-800. Ann Neurol. 2000. PMID: 10852545
Phenotypic variability in a Spanish family with MNGIE.
Gamez J, Ferreiro C, Accarino ML, Guarner L, Tadesse S, Martí RA, Andreu AL, Raguer N, Cervera C, Hirano M. Gamez J, et al. Among authors: hirano m. Neurology. 2002 Aug 13;59(3):455-7. doi: 10.1212/wnl.59.3.455. Neurology. 2002. PMID: 12177387
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: hirano m. 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: hirano m. Neurology. 2003 Apr 8;60(7):1203-5. doi: 10.1212/01.wnl.0000055928.58122.47. Neurology. 2003. PMID: 12682338
Cerebral lactic acidosis correlates with neurological impairment in MELAS.
Kaufmann P, Shungu DC, Sano MC, Jhung S, Engelstad K, Mitsis E, Mao X, Shanske S, Hirano M, DiMauro S, De Vivo DC. Kaufmann P, et al. Among authors: hirano m. Neurology. 2004 Apr 27;62(8):1297-302. doi: 10.1212/01.wnl.0000120557.83907.a8. Neurology. 2004. PMID: 15111665 Clinical Trial.
2,264 results