Early recognition of SGCE‐myoclonus–dystonia in children
Correa‐Vela, Marta, Carvalho, Joao, Ferrero‐Turrion, Julia, Cazurro‐Gutiérrez, Ana, Vanegas, Maria, Gonzalez, Victoria, Alvárez, Ramiro, Marcé‐Grau, Anna, Moreno, Antonio, Macaya‐Ruiz, Alfons, Pérez‐Dueñas, Belén
Published in Developmental medicine and child neurology (01.02.2023)
Published in Developmental medicine and child neurology (01.02.2023)
Get full text
Journal Article
Herpes simplex virus encephalitis is a trigger of brain autoimmunity
Armangue, Thaís, Leypoldt, Frank, Málaga, Ignacio, Raspall-Chaure, Miquel, Marti, Itxaso, Nichter, Charles, Pugh, John, Vicente-Rasoamalala, Monica, Lafuente-Hidalgo, Miguel, Macaya, Alfons, Ke, Michael, Titulaer, Maarten J., Höftberger, Romana, Sheriff, Heather, Glaser, Carol, Dalmau, Josep
Published in Annals of neurology (01.02.2014)
Published in Annals of neurology (01.02.2014)
Get full text
Journal Article
Clinical experience with brivaracetam in a series of 46 children
Visa-Reñé, Núria, Raspall-Chaure, Miquel, Paredes-Carmona, Fernando, Coromina, Júlia Sala, Macaya-Ruiz, Alfons
Published in Epilepsy & behavior (01.06.2020)
Published in Epilepsy & behavior (01.06.2020)
Get full text
Journal Article
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry
Published in Brain (London, England : 1878) (01.10.2019)
Published in Brain (London, England : 1878) (01.10.2019)
Get full text
Journal Article
16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency
Lasa-Aranzasti, Amaia, Cazurro-Gutiérrez, Ana, Bescós, Agustín, González, Victoria, Ispierto, Lourdes, Tardáguila, Manel, Valenzuela, Irene, Plaja, Alberto, Moreno-Galdó, Antonio, Macaya-Ruiz, Alfons, Pérez-Dueñas, Belen
Published in Parkinsonism & related disorders (01.10.2022)
Published in Parkinsonism & related disorders (01.10.2022)
Get full text
Journal Article
Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study
Flotats-Bastardas, Marina, Ebrahimi-Fakhari, Daniel, Gortner, Ludwig, Poryo, Martin, Zemlin, Michael, Macaya-Ruiz, Alfons, Meyer, Sascha
Published in Neuropediatrics (01.06.2018)
Published in Neuropediatrics (01.06.2018)
Get more information
Journal Article
Chiari malformation type I: a case-control association study of 58 developmental genes
Urbizu, Aintzane, Toma, Claudio, Poca, Maria A, Sahuquillo, Juan, Cuenca-León, Ester, Cormand, Bru, Macaya, Alfons
Published in PloS one (21.02.2013)
Published in PloS one (21.02.2013)
Get full text
Journal Article
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
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
Published in Scientific reports (31.05.2017)
Published in Scientific reports (31.05.2017)
Get full text
Journal Article
Genetic diagnosis of basal ganglia disease in childhood
Baide‐Mairena, Heidy, Marti‐Sánchez, Laura, Marcé‐Grau, Anna, Cazurro‐Gutiérrez, Ana, Sanchez‐Montanez, Angel, Delgado, Ignacio, Moreno‐Galdó, Antonio, Macaya‐Ruiz, Alfons, García‐Arumí, Elena, Pérez‐Dueñas, Belén
Published in Developmental medicine and child neurology (01.06.2022)
Published in Developmental medicine and child neurology (01.06.2022)
Get full text
Journal Article
Severe infantile acute encephalopathy and COG4 mutation: CDG IIJ
Felipe Rucián, Ana, Macaya Ruiz, Alfons, del Toro Riera, Mireia, Girós, M
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
Get full text
Journal Article
Cortical thickness and behavior abnormalities in children born preterm
Zubiaurre-Elorza, Leire, Soria-Pastor, Sara, Junque, Carme, Sala-Llonch, Roser, Segarra, Dolors, Bargallo, Nuria, Macaya, Alfons
Published in PloS one (30.07.2012)
Published in PloS one (30.07.2012)
Get full text
Journal Article
Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia
Sintas Vives, Cèlia, Carreño, Oriel, Fernández Castillo, Noelia, Corominas, Roser, Vila Pueyo, Marta, Toma, Claudio, Cuenca León, Ester, Barroeta, Isabel, Roig, Carles, Volpini Bertrán, Víctor, Macaya Ruiz, Alfons, Cormand Rifà, Bru
Published in Scientific reports (31.05.2017)
Get full text
Published in Scientific reports (31.05.2017)
Journal Article
Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia
Sintas Vives, Cèlia, Carreño, Oriel, Fernández Castillo, Noelia, Corominas, Roser, Vila Pueyo, Marta, Toma, Claudio, Cuenca León, Ester, Barroeta, Isabel, Roig, Carles, Volpini Bertrán, Víctor, Macaya Ruiz, Alfons, Cormand Rifà, Bru
Published in Scientific reports (31.05.2017)
Get full text
Published in Scientific reports (31.05.2017)
Journal Article
Insensibilidad congénita al dolor con anhidrosis asociada a síndrome miasténico congénito
Raspall Chaure, Miquel, del Toro Riera, Mireia, Gratacós Vinyola, Margarida, Cuenca León, Ester, Ferrer Abizanda, Isidre, Indo, Yasuhiro, Roig Quilis, Manel, Macaya Ruiz, Alfons
Published in Revista de neurologiá (2005)
Published in Revista de neurologiá (2005)
Get full text
Journal Article
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies
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
Published in Molecular genetics & genomic medicine (01.11.2013)
Published in Molecular genetics & genomic medicine (01.11.2013)
Get full text
Journal Article