A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy
Rodríguez, Cristina, Sánchez‐Morán, Irene, Álvarez, Sara, Tirado, Pilar, Fernández‐Mayoralas, Daniel M., Calleja‐Pérez, Beatriz, Almeida, Ángeles, Fernández‐Jaén, Alberto
Published in Journal of neurochemistry (01.10.2019)
Published in Journal of neurochemistry (01.10.2019)
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Journal Article
ANO3 and early-onset dyskinetic encephalopathy
Jiménez de Domingo, Ana, Lopez-Martín, Sara, Albert, Jacobo, Jiménez de la Peña, Mar, Tirado, Pilar, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Calleja-Pérez, Beatriz, Martínez-García, Mónica, Álvarez, Sara, Fernández-Jaén, Alberto
Published in European journal of medical genetics (01.12.2020)
Published in European journal of medical genetics (01.12.2020)
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Journal Article
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism
Young, Natalie, Asif, Maria, Jackson, Matthew, Fernández-Mayoralas, Daniel Martín, de la Peña, Mar Jimenez, Calleja-Pérez, Beatriz, Álvarez, Sara, Hunter-Featherstone, Eve, Noegel, Angelika A, Höhne, Wolfgang, Nürnberg, Peter, Obara, Boguslaw, Hussain, Muhammad Sajid, Karakesisoglou, Iakowos, Fernández-Jaén, Alberto
Published in Genes (24.08.2021)
Published in Genes (24.08.2021)
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Journal Article
Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome
Fernández-Jaén, Alberto, Castellanos, María del Carmen, Fernández-Perrone, Ana Laura, Fernández-Mayoralas, Daniel Martín, de la Vega, Alberto González, Calleja-Pérez, Beatriz, Fernández, Ester Corbacho, Albert, Jacobo, Hombre, María Carmen Sánchez
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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Journal Article
Cortical Thickness in Fetal Alcohol Syndrome and Attention Deficit Disorder
Fernández-Jaén, Alberto, MD, Fernández-Mayoralas, Daniel Martín, MD, PhD, Quiñones Tapia, Diana, MD, Calleja-Pérez, Beatriz, MD, García-Segura, Juan Manuel, MD, Arribas, Sonia López, MD, Muñoz Jareño, Nuria, MD, PhD
Published in Pediatric neurology (01.12.2011)
Published in Pediatric neurology (01.12.2011)
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Journal Article
Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX
Fernández-Jaén, Alberto, Suela, Javier, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Wotton, Karl R., Dietrich, Susanne, Castellanos, Maria del Carmen, Cigudosa, Juan C., Calleja-Pérez, Beatriz, López-Martín, Sara
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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Journal Article
Fetal Alcohol Syndrome, Tourette Syndrome, and Hyperactivity in Nine Adopted Children
Fernández-Mayoralas, Daniel Martín, MD, PhD, Fernández-Jaén, Alberto, MD, Muñoz-Jareño, Nuria, MD, Calleja Pérez, Beatriz, MD, Arroyo-González, Rafael, MD, PhD
Published in Pediatric neurology (01.08.2010)
Published in Pediatric neurology (01.08.2010)
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Journal Article
A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression
Paganoni, Alyssa J J, Amoruso, Federica, Porta Pelayo, Javier, Calleja-Pérez, Beatriz, Vezzoli, Valeria, Duminuco, Paolo, Caramello, Alessia, Oleari, Roberto, Fernández-Jaén, Alberto, Cariboni, Anna
Published in International journal of molecular sciences (18.05.2022)
Published in International journal of molecular sciences (18.05.2022)
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Journal Article
Attention-deficit/hyperactivity disorder and lifestyle habits in children and adolescents
Párraga, Juan Luis, Calleja Pérez, Beatriz, López-Martín, Sara, Albert, Jacobo, Martín Fernández-Mayoralas, Daniel, Fernández-Perrone, Ana Laura, Jiménez de Domingo, Ana, Tirado, Pilar, López-Arribas, Sonia, Suárez-Guinea, Rebeca, Fernández-Jaén, Alberto
Published in Actas espanolas de psiquiatria (01.07.2019)
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Published in Actas espanolas de psiquiatria (01.07.2019)
Journal Article
Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient
Fernández-Jaén, Alberto, Álvarez, Sara, Young So, Eui, Ouchi, Toru, Jiménez de la Peña, Mar, Duat, Anna, Martín Fernández-Mayoralas, Daniel, Fernández-Perrone, Ana Laura, Albert, Jacobo, Calleja-Pérez, Beatriz
Published in European journal of paediatric neurology (01.05.2016)
Published in European journal of paediatric neurology (01.05.2016)
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Journal Article
An open-label, prospective study of levetiracetam in children and adolescentes with Tourette syndrome
Fernández-Jaén, Alberto, Fernández-Mayoralas, Daniel Martín, Muñoz-Jareño, Nuria, Calleja-Pérez, Beatriz
Published in European journal of paediatric neurology (01.11.2009)
Published in European journal of paediatric neurology (01.11.2009)
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Journal Article
Autism and attention deficit hyperactivity disorder: pharmacological intervention
Fernández-Jaén, Alberto, Martín Fernández-Mayoralas, Daniel, Fernández-Perrone, Ana Laura, Calleja-Pérez, Beatriz, Muñoz-Jareño, Nuria, López-Arribas, Sonia
Published in Revista de neurologiá (06.09.2013)
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Published in Revista de neurologiá (06.09.2013)
Journal Article
Meralgia paresthetica in the pediatric population: a propos of 2 cases
Fernández-Mayoralas, Daniel Martín, Fernández-Jaén, Alberto, Jareño, Nuria Muñoz, Pérez, Beatriz Calleja, Fernández, Pedro Moreno, Sola, Antonio Guerrero
Published in Journal of child neurology (01.01.2010)
Published in Journal of child neurology (01.01.2010)
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Journal Article
Clinical and cognitive response to extended-release methylphenidate (Medikinet®) in attention deficit/hyperactivity disorder: Efficacy evaluation
Fernández-Jaén, Alberto, Fernández-Mayoralas, Daniel Martín, Pardos, Alexandra, Calleja-Pérez, Beatriz, Muñoz Jareño, Nuria
Published in Advances in therapy (01.12.2009)
Published in Advances in therapy (01.12.2009)
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Journal Article
Neurodesarrollo y fenocopias del trastorno por déficit de atención/hiperactividad: diagnóstico diferencial
Fernández Jaén, Alberto, Martín Fernández-Mayoralas, Daniel, Fernández Perrone, Ana Laura, Jiménez de Domingo, Ana, Albert Bitaubé, Jacobo, López Martín, Sara, Calleja Pérez, Beatriz, Tirado Requero, María Pilar, López Arribas, Sonia
Published in Revista de neurologiá (2018)
Published in Revista de neurologiá (2018)
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Journal Article
Neuroanatomía del trastorno por déficit de atención/hiperactividad: correlatos neuropsicológicos y clínicos
Albert Bitaubé, Jacobo, Fernández Jaén, Alberto, Martín Fernández-Mayoralas, Daniel, López Martín, Sara, Fernández Perrone, Ana Laura, Calleja Pérez, Beatriz, Jiménez de la Peña, Mar, Recio Rodríguez, Manuel
Published in Revista de neurologiá (16.07.2016)
Published in Revista de neurologiá (16.07.2016)
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Journal Article
Disfunción en el trastorno por déficit de atención/hiperactividad: evaluación y respuesta al tratamiento
Fernández Jaén, Alberto, Martín Fernández-Mayoralas, Daniel, Fernández Perrone, Ana Laura, Calleja Pérez, Beatriz, Albert Bitaubé, Jacobo, López Martín, Sara, López Arribas, Sonia
Published in Revista de neurologiá (2016)
Published in Revista de neurologiá (2016)
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Journal Article