DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

by Jonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Manel Baena, Edgard Verdura, Andres Nascimento, Carlos Ortez, Montserrat Baiget, Pia Gallano
Published 2015-01-01

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

by Dèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, Judith Armstrong, Loreto Martorell, Guerau Fernàndez, Joan Maynou, Cristina Jou, Mònica Roldan, Carlos Ortez, Andrés Nascimento, Janet Hoenicka, Francesc Palau
Published 2021-04-01

Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome.

by Sofia Temudo Duarte, Judith Armstrong, Ana Roche, Carlos Ortez, Ana Pérez, Maria del Mar O'Callaghan, Antonina Pereira, Francesc Sanmartí, Aida Ormazábal, Rafael Artuch, Mercedes Pineda, Angels García-Cazorla
Published 2013-01-01

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

by Selena Trifunov, Daniel Natera-de Benito, Jesica Maria Exposito Escudero, Carlos Ortez, Julita Medina, Daniel Cuadras, Carmen Badosa, Laura Carrera, Andres Nascimento, Andres Nascimento, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera
Published 2020-04-01

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.

by Sonia Paco, Susana G Kalko, Cristina Jou, María A Rodríguez, Joan Corbera, Francesco Muntoni, Lucy Feng, Eloy Rivas, Ferran Torner, Francesca Gualandi, Anna M Gomez-Foix, Anna Ferrer, Carlos Ortez, Andrés Nascimento, Jaume Colomer, Cecilia Jimenez-Mallebrera
Published 2013-01-01

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.

by Sonia Paco, Susana G Kalko, Cristina Jou, María A Rodríguez, Joan Corbera, Francesco Muntoni, Lucy Feng, Eloy Rivas, Ferran Torner, Francesca Gualandi, Anna M Gomez-Foix, Anna Ferrer, Carlos Ortez, Andrés Nascimento, Jaume Colomer, Cecilia Jimenez-Mallebrera
Published 2015-01-01

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

by Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, Jorge Alonso-Perez, Eduard Gallardo, Andres Nascimento, Carlos Ortez, Daniel Natera-de Benito, Montse Olive, Laura Gonzalez-Mera, Adolfo Lopez de Munain, Miren Zulaica, Juan Jose Poza, Ivonne Jerico, Laura Torne, Pau Riera, Jose Milisenda, Aurora Sanchez, Gloria Garrabou, Isabel Llano, Marcos Madruga-Garrido, Pia Gallano
Published 2020-05-01

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

by Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez‐Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia MA Chrzanowska‐Lightowlers, Robert N Lightowlers, Robert W Taylor
Published 2018-11-01

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

by Rafael Sivera, Marina Frasquet, Vincenzo Lupo, Tania García-Sobrino, Patricia Blanco-Arias, Julio Pardo, Roberto Fernández-Torrón, Adolfo López de Munain, Celedonio Márquez-Infante, Liliana Villarreal, Pilar Carbonell, Ricard Rojas-García, Sonia Segovia, Isabel Illa, Anna Lia Frongia, Andrés Nascimento, Carlos Ortez, María del Mar García-Romero, Samuel Ignacio Pascual, Ana Lara Pelayo-Negro, José Berciano, Antonio Guerrero, Carlos Casasnovas, Ana Camacho, Jesús Esteban, María José Chumillas, Marisa Barreiro, Carmen Díaz, Francesc Palau, Juan Jesús Vílchez, Carmen Espinós, Teresa Sevilla
Published 2017-07-01

Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

by Alicia Alonso-Jiménez, Alicia Alonso-Jiménez, Esther Fernández-Simón, Esther Fernández-Simón, Esther Fernández-Simón, Daniel Natera-de Benito, Carlos Ortez, Carme García, Elena Montiel, Izaskun Belmonte, Irene Pedrosa, Sonia Segovia, Sonia Segovia, Patricia Piñol-Jurado, Patricia Piñol-Jurado, Patricia Piñol-Jurado, Ana Carrasco-Rozas, Ana Carrasco-Rozas, Xavier Suárez-Calvet, Xavier Suárez-Calvet, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera, Andrés Nascimento, Andrés Nascimento, Jaume Llauger, Claudia Nuñez-Peralta, Paula Montesinos, Jorge Alonso-Pérez, Jorge Alonso-Pérez, Eduard Gallardo, Eduard Gallardo, Isabel Illa, Isabel Illa, Jordi Díaz-Manera, Jordi Díaz-Manera, Jordi Díaz-Manera
Published 2021-06-01