Copy number variation analysis of patients with intellectual disability from North-West Spain
Quintela, Inés, Eirís, Jesús, Gómez-Lado, Carmen, Pérez-Gay, Laura, Dacruz, David, Cruz, Raquel, Castro-Gago, Manuel, Míguez, Luz, Carracedo, Ángel, Barros, Francisco
Published in Gene (30.08.2017)
Published in Gene (30.08.2017)
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Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders
Brea-Fernández, Alejandro J, Souto-Trinei, Federica A, Iglesias, Elba, Caamaño, Pilar, Rodríguez Sánchez, Berta, Gómez Lado, Carmen, Eiris, Jesús, Fernández-Prieto, Montse, Barros, Francisco, Brea, Roberto J, Carracedo, Ángel
Published in Cytogenetic and genome research (2023)
Published in Cytogenetic and genome research (2023)
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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
Kumar, Raman, Gardner, Alison, Homan, Claire C., Douglas, Evelyn, Mefford, Heather, Wieczorek, Dagmar, Lüdecke, Hermann‐Josef, Stark, Zornitza, Sadedin, Simon, Nowak, Catherine Bearce, Douglas, Jessica, Parsons, Gretchen, Mark, Paul, Loidi, Lourdes, Herman, Gail E., Mihalic Mosher, Theresa, Gillespie, Meredith K., Brady, Lauren, Tarnopolsky, Mark, Madrigal, Irene, Eiris, Jesús, Domènech Salgado, Laura, Rabionet, Raquel, Strom, Tim M., Ishihara, Naoko, Inagaki, Hidehito, Kurahashi, Hiroki, Dudding‐Byth, Tracy, Palmer, Elizabeth E., Field, Michael, Gecz, Jozef
Published in Human mutation (01.08.2018)
Published in Human mutation (01.08.2018)
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Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
Vanegas, Maria I., Marcé-Grau, Anna, Martí-Sánchez, Laura, Mellid, Sara, Baide-Mairena, Heidy, Correa-Vela, Marta, Cazurro, Anna, Rodríguez, Carla, Toledo, Laura, Fernández-Ramos, Joaquín Alejandro, Pons, Roser, Aguilera-Albesa, Sergio, Martí, Maria José, Eiris, Jesús, Iglesias, Gema, De Fabregues, Oriol, Maqueda, Elena, Garriz-Luis, Maite, Madruga, Marcos, Espinós, Carmen, Macaya, Alfons, Cabrera, José Carlos, Pérez-Dueñas, Belén
Published in Parkinsonism & related disorders (01.11.2020)
Published in Parkinsonism & related disorders (01.11.2020)
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
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
Published in Orphanet journal of rare diseases (25.04.2014)
Published in Orphanet journal of rare diseases (25.04.2014)
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Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes
Gómez-Carballa, Alberto, Cerezo, María, Balboa, Emilia, Heredia, Claudia, Castro-Feijóo, Lidia, Rica, Itxaso, Barreiro, Jesús, Eirís, Jesús, Cabanas, Paloma, Martínez-Soto, Isabel, Fernández-Toral, Joaquín, Castro-Gago, Manuel, Pombo, Manuel, Carracedo, Ángel, Barros, Francisco, Salas, Antonio
Published in PloS one (19.04.2011)
Published in PloS one (19.04.2011)
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Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients
Ulate-Campos, Adriana, Fons, Carmen, Campistol, Jaume, Martorell, Loreto, Cancho-Candela, Ramón, Eiris, Jesús, López-Laso, Eduardo, Pineda, Mercedes, Sans, Anna, Velázquez, Ramón
Published in Medicina clinica (07.07.2014)
Published in Medicina clinica (07.07.2014)
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Cardiac troponin I for accurate evaluation of cardiac status in myopathic patients
Castro-Gago, Manuel, Gómez-Lado, Carmen, Eirís-Puñal, Jesús
Published in Brain & development (Tokyo. 1979) (01.02.2009)
Published in Brain & development (Tokyo. 1979) (01.02.2009)
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Journal Article
Respiratory chain complex I deficiency in an infant with Ohtahara syndrome
Castro-Gago, Manuel, Blanco-Barca, Manuel Oscar, Gómez-Lado, Carmen, Eirís-Puñal, Jesús, Campos-González, Yolanda, Arenas-Barbero, Joaquín
Published in Brain & development (Tokyo. 1979) (01.04.2009)
Published in Brain & development (Tokyo. 1979) (01.04.2009)
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Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene
Sempere, Angela, Fons, Carmen, Arias, Angela, Rodríguez-Pombo, Pilar, Merinero, Begoña, Alcaide, Patricia, Capdevila, Antoni, Ribes, Antonia, Duque, Rosario, Eirís, Jesús, Poo, Pilar, Fernández-Alvarez, Emilio, Campistol, Jaume, Artuch, Rafael
Published in Medicina clínica (21.11.2009)
Published in Medicina clínica (21.11.2009)
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Health care and societal costs of the management of children and adolescents with attention-deficit/hyperactivity disorder in Spain: a descriptive analysis
Quintero, Javier, Ramos-Quiroga, Josep A, Sebastián, Javier San, Montañés, Francisco, Fernández-Jaén, Alberto, Martínez-Raga, José, Giral, Marta García, Graell, Montserrat, Mardomingo, María J, Soutullo, César, Eiris, Jesús, Téllez, Montserrat, Pamias, Montserrat, Correas, Javier, Sabaté, Juncal, García-Orti, Laura, Alda, José A
Published in BMC psychiatry (08.02.2018)
Published in BMC psychiatry (08.02.2018)
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Journal Article
Duane's syndrome and 22 marker chromosome: A possible cat-eye syndrome
Gómez-Lado, Carmen, Eirís, Jesús, Martínez-Yriarte, José Manuel, Blanco, Oscar, Castro-Gago, Manuel
Published in Acta Paediatrica (01.11.2006)
Published in Acta Paediatrica (01.11.2006)
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Journal Article
Growth in children and adolescents with mitochondrial diseases
Castro-Gago, Manuel, Gómez-Lado, Carmen, Pérez-Gay, Laura, Eirís-Puñal, Jesús, Novo-Rodríguez, MaríaInés
Published in Journal of pediatric neurology (01.12.2011)
Published in Journal of pediatric neurology (01.12.2011)
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Journal Article
Levels of leptin, insulin, IGF-I, IGFBP-3, IL-6 and IL-8 in sera of patients with muscular dystrophy and mitochondrial encephalomyopathy
Castro-Gago, Manuel, Gómez-Lado, Carmen, Novo-Rodríguez, María Inés, Eirís-Puñal, Jesús, Rodríguez-García, Javier, Rodríguez-Segade, Santiago
Published in Journal of pediatric neurology (01.12.2010)
Published in Journal of pediatric neurology (01.12.2010)
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Journal Article
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients
Pérez-Poyato, María S, Marfa, Mercé Pineda, Abizanda, Isidre Ferrer, Rodriguez-Revenga, Laia, Sánchez, Victoria Cusí, González, María J Martínez, Puñal, Jesús Eiris, Pérez, Alfonso Verdú, González, M Mar García, Bermejo, Antonio Martínez, Hernández, Elena Martín, Rosell, M Josep Coll, Gort, Laura, Milá, Montserrat
Published in Journal of child neurology (01.04.2013)
Published in Journal of child neurology (01.04.2013)
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Journal Article
Hashimoto Encephalopathy in a Preschool Girl
Castro-Gago, Manuel, MD, Gómez-Lado, Carmen, MD, Maneiro-Freire, Mercedes, MD, Eirís-Puñal, Jesús, MD, Bravo-Mata, Manuel, MD
Published in Pediatric neurology (01.02.2010)
Published in Pediatric neurology (01.02.2010)
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