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Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree 大型Leber遗传性视神经病变谱系中新的病理突变的鉴定和表征 Emperador, Sonia; Habbane, Mouna; Lopez-Gallardo, Ester; del Rio, Alejandro; Llobet, Laura; Mateo, Javier; Sanz-Lopez, Ana Maria; Fernandez-Garcia, Maria Jose; Sanchez-Tocino, Hortensia; Benbunan-Ferreiro, Sol; Calabuig-Goena, Maria; Narvaez-Palazon, Carlos; Fernandez-Vega, Beatriz; Gonzalez-Iglesias, Hector; Urreizti, Roser; Artuch, Rafael; Pacheu-Grau, David; Bayona-Bafaluy, Pilar; Montoya, Julio; Ruiz-Pesini, Eduardo 分享 收藏
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Development and characterization of cell models harbouring mtDNA deletions for i n vitro study of Pearson syndrome Hernandez-Ainsa, Carmen; Lopez-Gallardo, Ester; Concepcion Garcia-Jimenez, Maria; Jose Climent-Alcala, Francisco; Rodriguez-Vigil, Carmen; Fernandez de Villalta, Marta Garcia; Artuch, Rafael; Montoya, Julio; Ruiz-Pesini, Eduardo; Emperador, Sonia 分享 收藏
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Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases 脑脊液中循环的无细胞线粒体DNA作为线粒体疾病的生物标志物 Trifunov, Selena; Paredes-Fuentes, Abraham J.; Badosa, Carmen; Codina, Anna; Montoya, Julio; Ruiz-Pesini, Eduardo; Jou, Cristina; Garrabou, Gloria; Grau-Junyent, Josep M.; Yubero, Delia; Montero, Raquel; Muchart, Jordi; Ortigoza-Escobar, Juan D.; O'Callaghan, Maria M.; Nascimento, Andres; Catala, Albert; Garcia-Cazorla, Angels; Jimenez-Mallebrera, Cecilia; Artuch, Rafael 分享 收藏
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Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy Dominguez-Gonzalez, Cristina; Badosa, Carmen; Madruga-Garrido, Marcos; Marti, Itxaso; Paradas, Carmen; Ortez, Carlos; Diaz-Manera, Jordi; Berardo, Andres; Alonso-Perez, Jorge; Trifunov, Selena; Cuadras, Daniel; Kalko, Susana G.; Blazquez-Bermejo, Cora; Camara, Yolanda; Marti, Ramon; Mavillard, Fabiola; Martin, Miguel A.; Montoya, Julio; Ruiz-Pesini, Eduardo; Villarroya, Joan; Montero, Raquel; Villarroya, Francesc; Artuch, Rafael; Hirano, Michio; Nascimento, Andres; Jimenez-Mallebrera, Cecilia 分享 收藏
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A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues Panades-de Oliveira, Luisa; Montoya, Julio; Emperador, Sonia; Ruiz-Pesini, Eduardo; Jerico, Ivonne; Arenas, Joaquin; Hernandez-Lain, Aurelio; Blazquez, Alberto; Martin, Miguel A.; Dominguez-Gonzalez, Cristina 分享 收藏
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Brain pyrimidine nucleotide synthesis and Alzheimer disease Pesini, Alba; Iglesias, Eldris; Pilar Bayona-Bafaluy, M.; Garrido-Perez, Nuria; Meade, Patricia; Gaudo, Paula; Jimenez-Salvador, Irene; Andres-Benito, Pol; Montoya, Julio; Ferrer, Isidro; Pesini, Pedro; Ruiz-Pesini, Eduardo 分享 收藏
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