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Expanding the clinical phenotypes of MT-ATP6 mutations.
López-Gallardo E, Emperador S, Solano A, Llobet L, Martín-Navarro A, López-Pérez MJ, Briones P, Pineda M, Artuch R, Barraquer E, Jericó I, Ruiz-Pesini E, Montoya J. López-Gallardo E, et al. Among authors: montoya j. Hum Mol Genet. 2014 Dec 1;23(23):6191-200. doi: 10.1093/hmg/ddu339. Epub 2014 Jun 30. Hum Mol Genet. 2014. PMID: 24986921
[Diseases of mitochondrial DNA].
Montoya J, Playán A, Solano A, Alcaine MJ, López-Pérez MJ, Pérez-Martos A. Montoya J, et al. Rev Neurol. 2000 Aug 16-31;31(4):324-33. Rev Neurol. 2000. PMID: 11008288 Review. Spanish.
[A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain].
Raspall-Chaure M, Solano A, Vázquez E, Macaya-Ruiz A, del Toro-Riera M, Cabezuelo-Briones A, Montoya J, Andreu A, Roig-Quilis M. Raspall-Chaure M, et al. Among authors: montoya j. Rev Neurol. 2004 Dec 16-31;39(12):1129-32. Rev Neurol. 2004. PMID: 15625630 Free article. Spanish.
945 results