Browsing by Author Ortez, Carlos Ignacio
Showing results 1 to 12 of 12
| Issue Date | Title | Author(s) |
|---|---|---|
| 13-May-2021 | CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings | Martínez Montseny, Antonio Federico; Edo, Albert; Casas Alba, Dídac; Izquierdo Serra, Mercè; Bolasell, Mercè; Conejo, David; Martorell, Loreto; Muchart López, Jordi; Carrera, Laura; Ortez, Carlos Ignacio; Nascimento, Andrés; Oliva Miguel, Baldomero; Fernández Fernández, José M.; Serrano, Mercedes |
| 24-Jul-2019 | Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child | Carrera-García, Laura; Natera de Benito, Daniel; Lleixà, Cinta; Ortez, Carlos Ignacio; Colomer, Jordi; Nascimento, Andrés; Saiz Hinarejos, Albert; Dalmau Obrador, Josep; Querol, Luis; Armangué, Thaís |
| 13-Aug-2019 | Clinical presentation and proteomic signature of patients with TANGO2 mutations | Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos Ignacio; García Cazorla, Àngels; Gross, Claudia; O'Callaghan, Maria; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Thompson, Kyle; Navas, Placido; Ribes Rubió, Maria Antònia; Tort, Frederic; Schlüter, Agatha; Pujol Onofre, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez Mallebrera, Cecilia; Taylor, Robert W.; Artuch Iriberri, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Rita |
| 7-Sep-2023 | ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization | Schlüter, Agatha; Vélez Santamaría, Valentina; Verdura, Edgard; Rodríguez Palmero, Agustí; Ruiz, Montserrat; Fourcade, Stéphane; Planas Serra, Laura; Launay, Nathalie; Guilera, Cristina; Martínez, Juan José; Homedes Pedret, Christian; Albertí Aguiló, M. Antonia; Zulaika, Miren; Martí, Itxaso; Troncoso, Mónica; Tomás Vila, Miguel; Bullich, Gemma; García Pérez, M. Asunción; Sobrido Gómez, María Jesús; López Laso, Eduardo; Fons, Carme; Toro, Mireia del; Macaya, Alfons; García Cazorla, Àngels; Ortiz Martínez, Antonio José; Ortez, Carlos Ignacio; Cáceres Marzal, Cristina; Martínez Salcedo, Eduardo; Mondragón, Elisabet; Barredo, Estíbaliz; Antón Airaldi, Ileana; Ruíz Martínez, Javier; Fernández Ramos, Joaquin A.; Vázquez, Juan Francisco; Díez Porras, Laura; Vázquez Cancela, María; O’Callaghan, Mar; Pablo Sánchez, Tamara; Nedkova, Velina; Maraña Pérez, Ana Isabel; Beltran, Sergi; Gutiérrez Solana, Luis G.; Pérez Jurado, Luis A.; Aguilera Albesa, Sergio; López de Munain, Adolfo; Casasnovas, Carlos; Pujol, Aurora; HSP/ATAXIA Workgroup |
| 18-Jan-2023 | Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants | Natera de Benito, Damiel; Olival T., Jonathan F.; Garcia Cabau, Carla; Jou, Cristina; Roldan, Mònica; Codina, Anna; Expósito Escudero, Jessica; Batlle, Cristina; Carrera García, Laura; Ortez, Carlos Ignacio; Salvatella i Giralt, Xavier; Palau Martínez, Francesc; Nascimento, Andrés; Hoenicka, Janet |
| 8-Aug-2017 | Differences In Adipose Tissue And Lean Mass Distribution In Patients With Collagen Vi Related Myopathies Are Associated With Disease Severity And Physical Ability | Rodríguez, María Angeles; Barquero, Luís M. del Rio; Ortez, Carlos Ignacio; Jou, Cristina; Vigo, Meritxell; Medina, Julita; Febrer, Anna; Ramon-Krauel, Marta; Díaz Manera, Jordi; Olivé i Plana, Montserrat; González Mera, Laura; Nascimento, Andrés; Jiménez Mallebrera, Cecilia |
| 27-Jul-2017 | Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain | Sivera, Rafael; Frasquet, Marina; Lupo, Vincenzo; García-Sobrino, Tania; Blanco-Arias, Patricia; Pardo, Julio; Fernández-Torrón, Roberto; López de Munain, Adolfo; Márquez Infante, Celedonio; Villarreal, Liliana; Carbonell, Pilar; Rojas-Garcia, Ricard; Segovia, Sonia; Illa Sendra, Isabel; Frongia, Anna Lia; Nascimento, Andrés; Ortez, Carlos Ignacio; García-Romero, Mar; Pascual-Pascua, Samuel Ignacio; Pelayo-Negro, Ana Lara; Berciano, José; Guerrero Sola, Antonio; Casasnovas Pons, Carlos; Camacho, Ana; Esteban, Jesús; Chumillas, María José; Barreiro, Marisa; Díaz, Carmen; Palau Martínez, Francesc; Vílchez, Juan Jesús; Espinós, Carmen; Sevilla, Teresa |
| 11-Feb-2016 | GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction | Montero Sánchez, Raquel; Yubero Siles, Dèlia; Villarroya i Terrade, Joan; Henares, Desiree; Jou, Cristina; Rodríguez, María Angeles; Ramos, Federico; Nascimento, Andrés; Ortez, Carlos Ignacio; Campistol Plana, Jaume; Pérez Dueñas, Belén; O'Callaghan, Mar; Pineda Marfà, Mercè; Garcia-Cazorla, Àngels; Oferil, Jaume Colomer; Montoya, Julio; Ruiz Pesini, Eduardo; Emperador, Sonia; Meznaric, Marija; Campderrós Traver, Laura; Kalko, Susana; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Jiménez Mallebrera, Cecilia |
| 11-Oct-2013 | Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets | Paco Mercader, Sonia; Kalko, Susana; Jou, Cristina; Rodríguez, María Angeles; Corbera, Joan; Muntoni, Francesco; Feng, Lucy; Rivas, Eloy; Torner Rubies, Ferran; Gualandi, Francesca; Gomez-Foix, Anna M.; Ferrer, Anna; Ortez, Carlos Ignacio; Nascimento, Andrés; Colomer Oferil, Jaume; Jiménez Mallebrera, Cecilia |
| 22-Jun-2020 | Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy | Domínguez González, Cristina; Badosa, Carmen; Madruga Garrido, Marcos; Martí, Itxaso; Paradas, Carmen; Ortez, Carlos Ignacio; Díaz Manera, Jordi; Berardo, Andrés; Alonso Pérez, Jorge; Trifunov, Selena; Cuadras, Daniel; Kalko, Susana G.; Blázquez Bermejo, Cora; Cámara Navarro, Yolanda; Martí, Ramon; Mavillard, Fabiola; Martín, Miguel A.; Montoya, Julio; Ruíz Pesini, Eduardo; Villarroya i Terrade, Joan; Montero Sánchez, Raquel; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Hirano, Michio; Nascimento, Andrés; Jiménez Mallebrera, Cecilia |
| 1-May-2020 | Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain | González Quereda, Lidia; Rodríguez, Maria Jose; Diaz Manera, Jordi; Alonso Pérez, Jorge; Gallardo, Eduard; Nascimento, Andrés; Ortez, Carlos Ignacio; Natera de Benito, Daniel; Olivé i Plana, Montserrat; González Mera, Laura; López de Munain, Adolfo; Zulaica, Miren; Poza, Juan Jose; Jerico, Ivonne; Tome, Laura; Riera, Pau; Milisenda, José; Sánchez, Aurora; Garrabou Tornos, Glòria; Llano, Isabel; Madruga Garrido, Marcos; Gallano, Pia |
| 1-Feb-2014 | Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies | Kalko, Susana; Paco Mercader, Sonia; Jou, Cristina; Rodríguez, María Angeles; Meznaric, Marija; Rogac, Mihael; Jekovec-Vrhovsek, Maja; Sciacco, Monica; Moggio, Maurizio; Fagiolari, Gigliola; De Paepe, Boel; De Meirleir, Linda; Ferrer, Isidro (Ferrer Abizanda); Roig Quilis, Manuel; Munell Casadesús, Francina; Montoya, Julio; López Gallardo, Ester; Ruiz Pesini, Eduardo; Artuch Iriberri, Rafael; Montero Sánchez, Raquel; Torner Rubies, Ferran; Nascimento, Andrés; Ortez, Carlos Ignacio; Colomer Oferil, Jaume; Jiménez Mallebrera, Cecilia |