Search Results - Pineda, Mercè
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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort... by Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè
Published 2015Text -
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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort by Gónzalez-Meneses, Antonio, Pineda, Mercè, Bandeira, Anabela, Janeiro, Patrícia, Ruiz, María Ángeles, Diogo, Luisa, Cancho-Candela, Ramón
Published 2021Text -
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Disease and patient characteristics in NP-C patients: findings from an international disease registry by Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Published 2013Text -
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Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis by Vidal, Silvia, Pascual‐Alonso, Ainhoa, Rabaza‐Gairí, Marc, Gerotina, Edgar, Brandi, Nuria, Pacheco, Paola, Xiol, Clara, Pineda, Mercè, Armstrong, Judith
Published 2019Text -
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients by Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, Judith
Published 2019Text -
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Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype by Lucariello, Mario, Vidal, Enrique, Vidal, Silvia, Saez, Mauricio, Roa, Laura, Huertas, Dori, Pineda, Mercè, Dalfó, Esther, Dopazo, Joaquin, Jurado, Paola, Armstrong, Judith, Esteller, Manel
Published 2016Text -
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Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease by Oyarzabal, Alfonso, Xiol, Clara, Castells, Alba Aina, Grau, Cristina, O’Callaghan, Mar, Fernández, Guerau, Alcántara, Soledad, Pineda, Mercè, Armstrong, Judith, Altafaj, Xavier, García-Cazorla, Angels
Published 2020Text -
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome by Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Published 2017Text -
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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome by Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Published 2021Text -
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InterRett, a model for international data collection in a rare genetic disorder by Louise, Sandra, Fyfe, Sue, Bebbington, Ami, Bahi-Buisson, Nadia, Anderson, Alison, Pineda, Mercé, Percy, Alan, Ben Zeev, Bruria, Wu, Xi Ru, Bao, Xinhua, Mac Leod, Patrick, Armstrong, Judith, Leonard, Helen
Published 2009Text -
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders by Fernández-Marmiesse, Ana, Morey, Marcos, Pineda, Merce, Eiris, Jesús, Couce, Maria Luz, Castro-Gago, Manuel, Fraga, Jose Maria, Lacerda, Lucia, Gouveia, Sofia, Pérez-Poyato, Maria Socorro, Armstrong, Judith, Castiñeiras, Daisy, Cocho, Jose A
Published 2014Text -
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Genetic screening for Niemann–Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study by Bauer, Peter, Balding, David J., Klünemann, Hans H., Linden, David E. J., Ory, Daniel S., Pineda, Mercè, Priller, Josef, Sedel, Frederic, Muller, Audrey, Chadha-Boreham, Harbajan, Welford, Richard W. D., Strasser, Daniel S., Patterson, Marc C.
Published 2013Text -
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Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis by Klomp, Leo W. J., de Koning, Tom J., Malingré, Helga E. M., van Beurden, Ellen A. C. M., Brink, Miny, Opdam, Frans L., Duran, Marinus, Jaeken, Jaak, Pineda, Merce, van Maldergem, Lionel, Poll-The, Bwee Tien, van den Berg, Inge E. T., Berger, Ruud
Published 2000Text -
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Plasma coenzyme Q(10) status is impaired in selected genetic conditions by Montero, Raquel, Yubero, Delia, Salgado, Maria C., González, María Julieta, Campistol, Jaume, O’Callaghan, Maria del Mar, Pineda, Mercè, Delgadillo, Verónica, Maynou, Joan, Fernandez, Guerau, Montoya, Julio, Ruiz-Pesini, Eduardo, Meavilla, Silvia, Neergheen, Viruna, García-Cazorla, Angels, Navas, Placido, Hargreaves, Iain, Artuch, Rafael
Published 2019Text -
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Vanishing White Matter Disease in a Spanish Population by Turón-Viñas, Eulàlia, Pineda, Mercè, Cusí, Victòria, López-Laso, Eduardo, del Pozo, Rebeca Losada, Gutiérrez-Solana, Luis González, Moreno, David Conejo, Sierra-Córcoles, Concha, Olabarrieta-Hoyos, Naiara, Madruga-Garrido, Marcos, Aguirre-Rodríguez, Javier, González-Álvarez, Verónica, O’Callaghan, Mar, Muchart, Jordi, Armstrong-Moron, Judith
Published 2014Text -
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Coenzyme Q(10) and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III by Yubero, Dèlia, Montero, Raquel, O’Callaghan, Mar, Pineda, Mercè, Meavilla, Silvia, Delgadillo, Veronica, Sierra, Cristina, Altimira, Laura, Navas, Plácido, Pope, Simon, Oppenheim, Marcus, Neergheen, Viruna, Ghosh, Arunabha, Mills, Phillipa, Clayton, Peter, Footitt, Emma, Cleary, Maureen, Hargreaves, Iain, Jones, Simon A., Heales, Simon, Artuch, Rafael
Published 2015Text