Muscle genome-wide expression profiling during disease evolution in mdx mice
Marotta, Mario, Ruiz-Roig, Claudia, Sarria, Yaris, Peiro, Jose Luis, Nunez, Fatima, Ceron, Julian, Munell, Francina, Roig-Quilis, Manuel
Published in Physiological genomics (01.04.2009)
Published in Physiological genomics (01.04.2009)
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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Juan-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, Francina, Roig-Quilis, Manuel, Rabasa, Maria, Hernández-Lain, Aurelio, Díaz-Manera, Jorge, Gallardo, Eduard, Pascual, Jordi, Verdura, Edgard, Colomer, Jaume, Baiget, Montserrat, Olivé, Montse, Gallano, Pia
Published in Orphanet journal of rare diseases (23.10.2012)
Published in Orphanet journal of rare diseases (23.10.2012)
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Journal Article
Central Hypoventilation and Brainstem Dysgenesis
Armangue, Thais, MD, Macaya, Alfons, MD, PhD, Vazquez, Elida, MD, Jurado, Maria José, MD, Roig-Quilis, Manuel, MD, PhD
Published in Pediatric neurology (01.04.2012)
Published in Pediatric neurology (01.04.2012)
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Journal Article
Brainstem Dysgenesis in an Infant Prenatally Exposed to Cocaine
Boix, Hector, MD, Ortega-Aznar, Arantxa, MD, Vazquez, Elida, MD, Salcedo, Salvador, MD, Roig-Quilis, Manuel, MD, PhD
Published in Pediatric neurology (01.04.2010)
Published in Pediatric neurology (01.04.2010)
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Journal Article
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 Graciela, Paco, Sonia, Jou, Cristina, Rodríguez, Maria Angels, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidre, Roig-Quilis, Manel, Munell, Francina, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo, Artuch, Rafael, Montero, Raquel, Torner, Ferran, Nascimento, Andres, Ortez, Carlos, Colomer, Jaume, Jimenez-Mallebrera, Cecilia
Published in BMC genomics (01.02.2014)
Published in BMC genomics (01.02.2014)
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Journal Article
Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum
Monlleo-Neila, Laura, Toro, Mireia Del, Bornstein, Belen, Garcia-Arumi, Elena, Sarrias, Axel, Roig-Quilis, Manuel, Munell, Francina
Published in Journal of child neurology (01.11.2013)
Published in Journal of child neurology (01.11.2013)
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Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation
Urbizu, Aintzane, Cuenca-León, Ester, Raspall-Chaure, Miquel, Gratacòs, Margarida, Conill, Joan, Redecillas, Susana, Roig-Quilis, Manuel, Macaya, Alfons
Published in Journal of the neurological sciences (15.08.2010)
Published in Journal of the neurological sciences (15.08.2010)
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Journal Article
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, Maria Angels, 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, Jaume, Jiménez Mallebrera, Cecilia
Published in BMC genomics (01.02.2014)
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Published in BMC genomics (01.02.2014)
Journal Article
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, Maria Angels, 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, Jaume, Jiménez Mallebrera, Cecilia
Published in BMC genomics (01.02.2014)
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Published in BMC genomics (01.02.2014)
Journal Article
Clinical variability of polymicrogiria: report of 35 new cases and review of the literature
Flotats-Bastardas, Marina, Sánchez-Montañez, Ángel, Vázquez-Méndez, Elida, Ortega-Aznar, Arantxa, Boronat-Guerrero, Susanna, Raspall-Chaure, Miquel, del Toro-Riera, Mireia, Munell, Francina, Macaya-Ruiz, Alfons, Roig-Quilis, Manuel
Published in Revista de neurologiá (16.09.2012)
Published in Revista de neurologiá (16.09.2012)
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Journal Article
Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial
Raspall Chaure, Miquel, Solano Palacios, Abelardo, Vázquez Méndez, Elida, Macaya Ruiz, Alfons, del Toro Riera, Mireia, Cabezuelo Briones, A., Montoya Villaroya, Julio, Andreu Périz, Antoni L., Roig Quilis, Manel
Published in Revista de neurologiá (16.12.2004)
Published in Revista de neurologiá (16.12.2004)
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