Galloping tongue syndrome in a PRRT2 mutation carrier

por Vilas, Dolores, Marcé-Grau, Anna, Macaya, Alfons, Valls-Solé, Josep, Tolosa, Eduard
Publicado 2019

Impact of Puberty in Pediatric Migraine: A Pilot Prospective Study

por Fonseca, Elena, Torres-Ferrús, Marta, Gallardo, Víctor José, Macaya, Alfons, Pozo-Rosich, Patricia
Publicado 2020

Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes

por Urbizu, Aintzane, Toma, Claudio, Poca, Maria A., Sahuquillo, Juan, Cuenca-León, Ester, Cormand, Bru, Macaya, Alfons
Publicado 2013

Cortical Thickness and Behavior Abnormalities in Children Born Preterm

por Zubiaurre-Elorza, Leire, Soria-Pastor, Sara, Junque, Carme, Sala-Llonch, Roser, Segarra, Dolors, Bargallo, Nuria, Macaya, Alfons
Publicado 2012

Two-stage case-control association study of dopamine-related genes and migraine

por Corominas, Roser, Ribases, Marta, Camiña, Montserrat, Cuenca-León, Ester, Pardo, Julio, Boronat, Susana, Sobrido, María-Jesús, Cormand, Bru, Macaya, Alfons
Publicado 2009

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

por Marcé-Grau, Anna, Dalton, James, López-Pisón, Javier, García-Jiménez, María Concepción, Monge-Galindo, Lorena, Cuenca-León, Ester, Giraldo, Jesús, Macaya, Alfons
Publicado 2016

Real-World Evidence Study on the Long-Term Safety of Everolimus in Patients With Tuberous Sclerosis Complex: Final Analysis Results

por Ruiz-Falcó Rojas, María Luz, Feucht, Martha, Macaya, Alfons, Wilken, Bernd, Hahn, Andreas, Maamari, Ricardo, Hirschberg, Yulia, Ridolfi, Antonia, Kingswood, John Chris
Publicado 2022

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of Ca(V)2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca(2+) Influx

por Bahamonde, Maria Isabel, Serra, Selma Angèlica, Drechsel, Oliver, Rahman, Rubayte, Marcé-Grau, Anna, Prieto, Marta, Ossowski, Stephan, Macaya, Alfons, Fernández-Fernández, José M.
Publicado 2015

Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence

por Verdura, Edgard, Senger, Bruno, Raspall-Chaure, Miquel, Schlüter, Agatha, Launay, Nathalie, Ruiz, Montserrat, Casasnovas, Carlos, Rodriguez-Palmero, Agustí, Macaya, Alfons, Becker, Hubert Dominique, Pujol, Aurora
Publicado 2022

Reduced hippocampal subfield volumes and memory performance in preterm children with and without germinal matrix-intraventricular hemorrhage

por Fernández de Gamarra-Oca, Lexuri, Zubiaurre-Elorza, Leire, Junqué, Carme, Solana, Elisabeth, Soria-Pastor, Sara, Vázquez, Élida, Delgado, Ignacio, Macaya, Alfons, Ojeda, Natalia, Poca, Maria A.
Publicado 2021

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

por Sintas, Cèlia, Carreño, Oriel, Fernàndez-Castillo, Noèlia, Corominas, Roser, Vila-Pueyo, Marta, Toma, Claudio, Cuenca-León, Ester, Barroeta, Isabel, Roig, Carles, Volpini, Víctor, Macaya, Alfons, Cormand, Bru
Publicado 2017

Brain lesion scores obtained using a simple semi-quantitative scale from MR imaging are associated with motor function, communication and cognition in dyskinetic cerebral palsy

por Laporta-Hoyos, Olga, Fiori, Simona, Pannek, Kerstin, Ballester-Plané, Júlia, Leiva, David, Reid, Lee B., Pagnozzi, Alex M., Vázquez, Élida, Delgado, Ignacio, Macaya, Alfons, Pueyo, Roser, Boyd, Roslyn N.
Publicado 2018

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

por Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Martinez Monseny, Antonio F., Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G., Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes
Publicado 2017

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

por Bosio, Mattia, Drechsel, Oliver, Rahman, Rubayte, Muyas, Francesc, Rabionet, Raquel, Bezdan, Daniela, Domenech Salgado, Laura, Hor, Hyun, Schott, Jean‐Jacques, Munell, Francina, Colobran, Roger, Macaya, Alfons, Estivill, Xavier, Ossowski, Stephan
Publicado 2019

White matter integrity in dyskinetic cerebral palsy: Relationship with intelligence quotient and executive function

por Laporta-Hoyos, Olga, Pannek, Kerstin, Ballester-Plané, Júlia, Reid, Lee B., Vázquez, Élida, Delgado, Ignacio, Zubiaurre-Elorza, Leire, Macaya, Alfons, Póo, Pilar, Meléndez-Plumed, Mar, Junqué, Carme, Boyd, Roslyn, Pueyo, Roser
Publicado 2017

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

por Urbizu, Aintzane, Garrett, Melanie E., Soldano, Karen, Drechsel, Oliver, Loth, Dorothy, Marcé-Grau, Anna, Mestres i Soler, Olga, Poca, Maria A., Ossowski, Stephan, Macaya, Alfons, Loth, Francis, Labuda, Rick, Ashley-Koch, Allison
Publicado 2021

The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant

por Pauly, Martje G., Korenke, G. Christoph, Diaw, Sokhna Haissatou, Grözinger, Anne, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, González, Victoria, Macaya, Alfons, Serrano Antón, Ana Teresa, Peterlin, Borut, Božović, Ivana Babić, Maver, Aleš, Münchau, Alexander, Lohmann, Katja
Publicado 2023

A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea

por Salpietro, Vincenzo, Perez‐Dueñas, Belen, Nakashima, Kosuke, San Antonio‐Arce, Victoria, Manole, Andreea, Efthymiou, Stephanie, Vandrovcova, Jana, Bettencourt, Conceicao, Mencacci, Niccolò E., Klein, Christine, Kelly, Michy P., Davies, Ceri H., Kimura, Haruhide, Macaya, Alfons, Houlden, Henry
Publicado 2018

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

por Carreño, Oriel, Corominas, Roser, Serra, Selma Angèlica, Sintas, Cèlia, Fernández-Castillo, Noèlia, Vila-Pueyo, Marta, Toma, Claudio, Gené, Gemma G, Pons, Roser, Llaneza, Miguel, Sobrido, María-Jesús, Grinberg, Daniel, Valverde, Miguel Ángel, Fernández-Fernández, José Manuel, Macaya, Alfons, Cormand, Bru
Publicado 2013

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

por Correa‐Vela, Marta, Lupo, Vincenzo, Montpeyó, Marta, Sancho, Paula, Marcé‐Grau, Anna, Hernández‐Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández‐Rodríguez, Sandra, Tello, Cristina, Ramírez‐Jiménez, Laura, Pérez, Belén, Sánchez‐Montáñez, Ángel, Macaya, Alfons, Sobrido, María J., Martinez‐Vicente, Marta, Pérez‐Dueñas, Belén, Espinós, Carmen
Publicado 2020