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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Melià MJ, et al. Among authors: hirano m. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29. Brain. 2013. PMID: 23543484 Free PMC article.
Measurement of mitochondrial dNTP pools.
Martí R, Dorado B, Hirano M. Martí R, et al. Among authors: hirano m. Methods Mol Biol. 2012;837:135-48. doi: 10.1007/978-1-61779-504-6_9. Methods Mol Biol. 2012. PMID: 22215545 Free PMC article.
Analysis of human mitochondrial DNA mutations.
Andreu AL, Martí R, Hirano M. Andreu AL, et al. Among authors: hirano m. Methods Mol Biol. 2003;217:185-97. doi: 10.1385/1-59259-330-5:185. Methods Mol Biol. 2003. PMID: 12491933 No abstract available.
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Halter JP, Michael W, Schüpbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IF, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, Hirano M. Halter JP, et al. Among authors: hirano m. Brain. 2015 Oct;138(Pt 10):2847-58. doi: 10.1093/brain/awv226. Epub 2015 Aug 10. Brain. 2015. PMID: 26264513 Free PMC article.
Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.
Torres-Torronteras J, Cabrera-Pérez R, Barba I, Costa C, de Luna N, Andreu AL, Barquinero J, Hirano M, Cámara Y, Martí R. Torres-Torronteras J, et al. Among authors: hirano m. Hum Gene Ther. 2016 Sep;27(9):656-67. doi: 10.1089/hum.2015.160. Epub 2016 May 4. Hum Gene Ther. 2016. PMID: 27004974 Free PMC article.
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.
Gamez J, Lara MC, Mearin F, Oliveras-Ley C, Raguer N, Olive M, Leist AT, Perello A, Perona M, Cervera C, Andreu AL, Martí R, Hirano M. Gamez J, et al. Among authors: hirano m. J Neurol Sci. 2005 Jan 15;228(1):35-9. doi: 10.1016/j.jns.2004.09.034. Epub 2004 Nov 12. J Neurol Sci. 2005. PMID: 15607208
2,264 results