Browsing by Author Nascimento, Andrés

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Showing results 1 to 15 of 15
Issue DateTitleAuthor(s)
13-May-2021CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional FindingsMartínez 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-2019Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a childCarrera-García, Laura; Natera de Benito, Daniel; Lleixà, Cinta; Ortez, Carlos Ignacio; Colomer, Jordi; Nascimento, Andrés; Saiz Hinajeros, Albert; Dalmau Obrador, Josep; Querol, Lluis; Armangué, Thaís
13-Aug-2019Clinical presentation and proteomic signature of patients with TANGO2 mutationsMingirulli, 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, Angels; 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
22-Feb-2010Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissueRaymond, Frederic; Métairon, Sylviane; Kussmann, Martin; Colomer Oferil, Jaume; Nascimento, Andrés; Mormeneo, Emma; García Martínez, Celia; Gómez Foix, Anna Maria
16-Apr-2022CRISPR/Cas9-mediated allele-specific disruption of a dominant COL6A1 pathogenic variant improves collagen VI network in patient fibroblastsLópez-Márquez, Arístides; Morín, Matías; Fernández-Peñalver, Sergio; Badosa, Carmen; Hernández-Delgado, Alejandro; Natera-de Benito, Daniel; Ortez, Carlos; Nascimento, Andrés; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Roldán Molina, Mònica; Moreno-Pelayo, Miguel Ángel; Jiménez-Mallebrera, Cecilia
8-Aug-2017Differences In Adipose Tissue And Lean Mass Distribution In Patients With Collagen Vi Related Myopathies Are Associated With Disease Severity And Physical AbilityRodríguez, 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-2017Distribution and genotype-phenotype correlation of GDAP1 mutations in SpainSivera, 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-2016GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunctionMontero 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-2013Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targetsPaco 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-2020Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathyDomínguez 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-Jan-2022Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular DystrophiesAlmici, Enrico; Chiappini, Vanessa; López Márquez, Arístides; Badosa, Carmen; Blázquez, Blanca; Caballero, David; Montero Boronat, Juan José; Natera de Benito, Daniel; Nascimento, Andrés; Roldan, Mònica; Lagunas, Anna; Jimenez Mallebrera, Cecilia; Samitier i Martí, Josep
12-Jan-2012PGC-1α induces mitochondrial and myokine transcriptional programs and lipid droplet and glycogen accumulation in cultured human skeletal muscle cellsMormeneo, Emma; Jiménez Mallebrera, Cecilia; Palomer Tarridas, Francesc Xavier; De Nigris, Valeria; Vázquez Carrera, Manuel; Orozco, Anna; Nascimento, Andrés; Colomer Oferil, Jaume; Lerín Martínez, Carlos; Gómez Foix, Anna Maria
23-Oct-2012Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyJuan Mateu, Jonàs; Rodríguez, Maria José; Nascimento, Andrés; Jiménez Mallebrera, Cecilia; González Quereda, Lidia; Rivas, Eloy; Paradas, Carmen; Madruga, Marcos; Sánchez Ayaso, Pedro; Jou, Cristina; González Mera, Laura; Munell Casadesús, Francina; Roig Quilis, Manuel; Rabasa, Maria; Hernández Lain, Aurelio; Díaz Manera, Jordi; Gallardo, Eduard; Pascual Calvet, Jordi; Verdura, Edgard; Colomer Oferil, Jaume; Baiget Bastús, Montserrat; Olivé i Plana, Montserrat; Gallano, Pia
1-May-2020Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in SpainGonzález 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-2014Transcriptomic 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 myopathiesKalko, 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