檢索結果 - Pineda, Mercè

Miglustat in Niemann-Pick disease type C patients: a review 由 Pineda, Mercè, Walterfang, Mark, Patterson, Marc C.

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Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges 由 Vidal, Silvia, Xiol, Clara, Pascual-Alonso, Ainhoa, O’Callaghan, M., Pineda, Mercè, Armstrong, Judith

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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... 由 Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè

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The phenotype associated with a large deletion on MECP2 由 Bebbington, Ami, Downs, Jenny, Percy, Alan, Pineda, Mercé, Zeev, Bruria Ben, Bahi-Buisson, Nadia, Leonard, Helen

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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort 由 Gónzalez-Meneses, Antonio, Pineda, Mercè, Bandeira, Anabela, Janeiro, Patrícia, Ruiz, María Ángeles, Diogo, Luisa, Cancho-Candela, Ramón

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Disease and patient characteristics in NP-C patients: findings from an international disease registry 由 Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé

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Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry 由 Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé

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Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis 由 Vidal, Silvia, Pascual‐Alonso, Ainhoa, Rabaza‐Gairí, Marc, Gerotina, Edgar, Brandi, Nuria, Pacheco, Paola, Xiol, Clara, Pineda, Mercè, Armstrong, Judith

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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients 由 Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, Judith

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Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype 由 Lucariello, Mario, Vidal, Enrique, Vidal, Silvia, Saez, Mauricio, Roa, Laura, Huertas, Dori, Pineda, Mercè, Dalfó, Esther, Dopazo, Joaquin, Jurado, Paola, Armstrong, Judith, Esteller, Manel

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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 由 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

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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome 由 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

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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome 由 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

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InterRett, a model for international data collection in a rare genetic disorder 由 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

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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders 由 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

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Genetic screening for Niemann–Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study 由 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.

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Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis 由 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

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Plasma coenzyme Q(10) status is impaired in selected genetic conditions 由 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

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Vanishing White Matter Disease in a Spanish Population 由 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

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Coenzyme Q(10) and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III 由 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

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