Miglustat in Niemann-Pick disease type C patients: a review

by Mercè Pineda, Mark Walterfang, Marc C. Patterson
Published 2018-08-01

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

by Silvia Vidal, Clara Xiol, Ainhoa Pascual-Alonso, M. O’Callaghan, Mercè Pineda, Judith Armstrong
Published 2019-08-01

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

by Silvia Vidal, Ainhoa Pascual‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong
Published 2019-08-01

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 Alfonso Oyarzabal, Clara Xiol, Alba Aina Castells, Cristina Grau, Mar O’Callaghan, Guerau Fernández, Soledad Alcántara, Mercè Pineda, Judith Armstrong, Xavier Altafaj, Angels García-Cazorla
Published 2020-01-01

RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE

by James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm
Published 2010-02-01

RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE

by James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm
Published 2010-02-01

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

by Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group
Published 2021-09-01

Plasma idebenone monitoring in Friedreich’s ataxia patients during a long-term follow-up

by Abraham J. Paredes-Fuentes, Sergi Cesar, Raquel Montero, Cristina Latre, Jordi Genovès, Loreto Martorell, Daniel Cuadras, Helena Colom, Mercè Pineda, Maria del Mar O’Callaghan, Georgia Sarquella-Brugada, Alejandra Darling, Rafael Artuch
Published 2021-11-01

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

by Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
Published 2019-11-01

Vanishing White Matter Disease in a Spanish Population

by Eulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, Eduardo López-Laso, Rebeca Losada del Pozo, Luis González Gutiérrez-Solana, David Conejo Moreno, Concha Sierra-Córcoles, Naiara Olabarrieta-Hoyos, Marcos Madruga-Garrido, Javier Aguirre-Rodríguez, Verónica González-Álvarez, Mar O’Callaghan, Jordi Muchart, Judith Armstrong-Moron
Published 2014-07-01

Vanishing White Matter Disease in a Spanish Population

by Eulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, Eduardo López-Laso, Rebeca Losada Del Pozo, Luis González Gutiérrez-Solana, David Conejo Moreno, Concha Sierra-Córcoles, Naiara Olabarrieta-Hoyos, Marcos Madruga-Garrido, Javier Aguirre-Rodríguez, Verónica González-Álvarez, Mar O'callaghan, Jordi Muchart, Judith Armstrong-Moron
Published 2014-01-01

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

by Catia S. Pereira, Catia S. Pereira, Begoña Pérez-Cabezas, Begoña Pérez-Cabezas, Helena Ribeiro, Helena Ribeiro, Helena Ribeiro, M. Luz Maia, M. Teresa Cardoso, Ana F. Dias, Olga Azevedo, M. Fatima Ferreira, Paula Garcia, Esmeralda Rodrigues, Paulo Castro-Chaves, Esmeralda Martins, Patricio Aguiar, Mercè Pineda, Yasmina Amraoui, Simona Fecarotta, Elisa Leão-Teles, Shenglou Deng, Paul B. Savage, M. Fatima Macedo, M. Fatima Macedo, M. Fatima Macedo
Published 2019-06-01