Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

by Guillem Pintos-Morell, Javier Blasco-Alonso, María L. Couce, Luís G. Gutiérrez-Solana, Encarna Guillén-Navarro, Mar O'Callaghan, Mireia del Toro
Published 2018-06-01

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

by Alba-Aina Castells, Rafel Balada, Alba Tristán-Noguero, Mar O’Callaghan, Elisenda Cortès-Saladelafont, Ainhoa Pascual-Alonso, Àngels Garcia-Cazorla, Judith Armstrong, Soledad Alcántara
Published 2021-02-01

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

Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome.

by Sofia Temudo Duarte, Judith Armstrong, Ana Roche, Carlos Ortez, Ana Pérez, Maria del Mar O'Callaghan, Antonina Pereira, Francesc Sanmartí, Aida Ormazábal, Rafael Artuch, Mercedes Pineda, Angels García-Cazorla
Published 2013-01-01

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

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

by Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Published 2020-02-01

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

by Raquel Montero, Delia Yubero, Joan Villarroya, Desiree Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, Andrés Nascimento, Carlos Ignacio Ortez, Jaume Campistol, Belen Perez-Dueñas, Mar O'Callaghan, Mercedes Pineda, Angeles Garcia-Cazorla, Jaume Colomer Oferil, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador, Marija Meznaric, Laura Campderros, Susana G Kalko, Francesc Villarroya, Rafael Artuch, Cecilia Jimenez-Mallebrera
Published 2016-01-01

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

by Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga, Elena Martin-Hernández, Maria del Mar O’Callaghan, Alberto Pérez del Soto, Yolanda Ruiz del Prado, Ignacio Sancho-Val, Pablo Sanjurjo, Miguel Pocovi, Pilar Giraldo
Published 2017-05-01

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

by Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I. Dali, Francesca D’Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla
Published 2016-11-01