Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

Por Vidal, Silvia, Xiol, Clara, Pascual-Alonso, Ainhoa, O’Callaghan, M., Pineda, Mercè, Armstrong, Judith
Publicado no Int J Mol Sci (2019)

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort...

Por Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè
Publicado no Orphanet J Rare Dis (2015)

The phenotype associated with a large deletion on MECP2

Por Bebbington, Ami, Downs, Jenny, Percy, Alan, Pineda, Mercé, Zeev, Bruria Ben, Bahi-Buisson, Nadia, Leonard, Helen
Publicado em 2012

Disease and patient characteristics in NP-C patients: findings from an international disease registry

Por Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Publicado em 2013

Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry

Por Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Publicado em 2013

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

Por Vidal, Silvia, Pascual‐Alonso, Ainhoa, Rabaza‐Gairí, Marc, Gerotina, Edgar, Brandi, Nuria, Pacheco, Paola, Xiol, Clara, Pineda, Mercè, Armstrong, Judith
Publicado no Mol Genet Genomic Med (2019)

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Por Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, Judith
Publicado no Sci Rep (2019)

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

Por Lucariello, Mario, Vidal, Enrique, Vidal, Silvia, Saez, Mauricio, Roa, Laura, Huertas, Dori, Pineda, Mercè, Dalfó, Esther, Dopazo, Joaquin, Jurado, Paola, Armstrong, Judith, Esteller, Manel
Publicado no Hum Genet (2016)

Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

Por 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
Publicado no Int J Mol Sci (2020)

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

Por 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
Publicado no Sci Rep (2017)

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

Por 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
Publicado em 2009

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

Por 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
Publicado em 2014

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

Por 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.
Publicado em 2013

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

Por 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
Publicado em 2000

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

Por 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
Publicado no Sci Rep (2019)

Vanishing White Matter Disease in a Spanish Population

Por 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
Publicado em 2014

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

Por 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
Publicado no JIMD Rep (2015)

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Por Pereira, Catia S., Pérez-Cabezas, Begoña, Ribeiro, Helena, Maia, M. Luz, Cardoso, M. Teresa, Dias, Ana F., Azevedo, Olga, Ferreira, M. Fatima, Garcia, Paula, Rodrigues, Esmeralda, Castro-Chaves, Paulo, Martins, Esmeralda, Aguiar, Patricio, Pineda, Mercè, Amraoui, Yasmina, Fecarotta, Simona, Leão-Teles, Elisa, Deng, Shenglou, Savage, Paul B., Macedo, M. Fatima
Publicado no Front Immunol (2019)

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

Por Quijada-Fraile, Pilar, O’Callaghan, Mar, Martín-Hernández, Elena, Montero, Raquel, Garcia-Cazorla, Àngels, de Aragón, Ana Martínez, Muchart, Jordi, Málaga, Ignacio, Pardo, Rafael, García-Gonzalez, Pedro, Jou, Cristina, Montoya, Julio, Emperador, Sonia, Ruiz-Pesini, Eduardo, Arenas, Joaquín, Martin, Miguel Angel, Ormazabal, Aida, Pineda, Mercè, García-Silva, María T, Artuch, Rafael
Publicado no Orphanet J Rare Dis (2014)