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leaD reSearcHer
Martín Casanueva, Miguel Ángel
Servicio Madrileño de Salud
Hospital Univ. 12 de Octubre. Av. de Córdoba S/N.
Centro de Actividades Ambulatorias
6a Pl. Bloque D, Pasillo 1. 28041 Madrid
(+34) 91 779 27 85 [email protected] group website
GROUP MEMBERS
Staff members: Blázquez Encinar, Alberto | Jiménez García, Sara
Associated members: Arenas Barbero, Joaquín | Atencia Cibreiro, María Gabriela | Del Hoyo Gordillo, Pilar | Delmiro Magdalena, Aitor | Domínguez González, Cristina | Esteban Pérez, Jesús | Fiuza Luces, Carmen
| García Redondo, Alberto | García Silva, María Teresa | García-Consuegra Galiana, Inés | Juárez Rufián, Alexandra | Martínez Azorín, Francisco | Morán Bermejo, María Jesús | Rubio Muñoz, Juan Carlos | Rufián Vázquez, Laura | Ugalde Bilbao, Cristina
Main lines of research
• Mitochondrial diseases and exercise intolerance: Development and standardization of biochemical and genetic/genomic methods to improve the biochemical and genetic diagnosis. Identification of new disease-causing genes and novel mutations.
• Biochemical and molecular basis of mitochondrial respiratory chain complex I and complex III deficiencies.
• Assessment of OXPHOS complexes assembly and respirasome by BN_PAGE and its clinical translation
• Identification and validation of biomarkers in mitochondrial disorders.
• Neuromuscular diseases research lines: Metabolic Exercise Intolerance: i) Patient’s registries, natural
history and genotype-phenotype correlations of type V glycogenosis (GSDV- McArdle disease), ii) Amyotrophic Lateral Sclerosis: identifications of novel mutations, evaluation of pathophysiology of ALS using cell and animal models, and patient’s clinical trials.
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PROGRAMMES
Mitochondrial and Neuromuscular Medicine