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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review
Martín Fernández-Mayoralas, Daniel, Albert, Jacobo, López-Martín, Sara, de la Peña, Mar Jiménez, Fernández-Perrone, Ana Laura, Jiménez de Domingo, Ana, Calleja-Pérez, Beatriz, Martínez-García, Mónica, Álvarez, Sara, Fernández-Jaén, Alberto
Published in Molecular syndromology (2022)
Published in Molecular syndromology (2022)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
In utero diagnosis of PHACE syndrome by fetal magnetic resonance imaging (MRI)
Fernández-Mayoralas, Daniel Martín, Recio-Rodríguez, Manuel, Fernández-Perrone, Ana Laura, Jiménez-de-la-Peña, Mar, Muñoz-Jareño, Nuria, Fernández-Jaén, Alberto
Published in Journal of child neurology (01.01.2014)
Published in Journal of child neurology (01.01.2014)
Get more information
Journal Article
Prenatal diagnosis of frontonasal dysplasia associated with bilateral periventricular nodular heterotopia
Recio-Rodríguez, Manuel, Fernández-Mayoralas, Daniel Martín, Fernández-Jaén, Alberto, Fernández-Perrone, Ana Laura, Cano-Alonso, Raquel, Jiménez-de-La-Peña, Mar
Published in Journal of child neurology (01.10.2014)
Published in Journal of child neurology (01.10.2014)
Get more information
Journal Article
Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion
Fernández-Jaén, Alberto, Fernández-Perrone, Ana Laura, Fernández-Mayoralas, Daniel Martín, Calleja-Pérez, Beatriz, Sánchez-Hombre, María del Carmen, Fernández, Ester Corbacho, López-Martín, Sara
Published in Child's nervous system (01.12.2014)
Published in Child's nervous system (01.12.2014)
Get full text
Journal Article
Efficacy of Atomoxetine for the Treatment of ADHD Symptoms in Patients With Pervasive Developmental Disorders: A Prospective, Open-Label Study
Fernández-Jaén, Alberto, Fernández-Mayoralas, Daniel Martín, Calleja-Pérez, Beatriz, Muñoz-Jareño, Nuria, Campos Díaz, María del Rosario, López-Arribas, Sonia
Published in Journal of attention disorders (01.08.2013)
Published in Journal of attention disorders (01.08.2013)
Get full text
Journal Article
Clinical response to methylphenidate in a patient with self-induced photosensitive epilepsy
Fernández-Mayoralas, Daniel Martín, Fernández-Jaén, Alberto, Gómez-Caicoya, Anne, Jareño, Nuria Muñoz, Arroyo-González, Rafael
Published in Journal of child neurology (01.06.2011)
Published in Journal of child neurology (01.06.2011)
Get more information
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)
Get full text
Journal Article
Cortical thickness at the time of the initial attack in two patients with paediatric relapsing–remitting multiple sclerosis
Fernández-Jaén, Alberto, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Jiménez de la Peña, Mar, Recio Rodríguez, Manuel, Calleja-Pérez, Beatriz, Muñoz Jareño, Nuria, Arroyo, Rafael, Albert, Jacobo
Published in European journal of paediatric neurology (01.05.2014)
Published in European journal of paediatric neurology (01.05.2014)
Get full text
Journal Article
Social and leadership abilities in attention deficit/hyperactivity disorder: relation with cognitive-attentional capacities
Fernández-Jaén, Alberto, Martín Fernández-Mayoralas, Daniel, López-Arribas, Sonia, Pardos-Véglia, Alexandra, Muñiz-Borrega, Blanca, García-Savaté, Carolina, Prados-Parra, Baldomero, Calleja-Pérez, Beatriz, Muñoz-Jareño, Nuria, Fernández-Perrone, Ana L
Published in Actas espanolas de psiquiatria (01.05.2012)
Get more information
Published in Actas espanolas de psiquiatria (01.05.2012)
Journal Article
Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings
Irene Díez García-Prieto, I, Lopez-Martín, Sara, Albert, Jacobo, Jiménez de la Peña, Mar, Fernández-Mayoralas, Daniel Martín, Calleja-Pérez, Beatriz, Gómez Fernández, María Teresa, Álvarez, Sara, Pihlajaniemi, Taina, Izzi, Valerio, Fernández-Jaén, Alberto
Published in Neurocase (02.01.2022)
Published in Neurocase (02.01.2022)
Get full text
Journal Article
Cortical thinning of temporal pole and orbitofrontal cortex in medication-naïve children and adolescents with ADHD
Fernández-Jaén, Alberto, López-Martín, Sara, Albert, Jacobo, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Tapia, Diana Quiñones, Calleja-Pérez, Beatriz
Published in Psychiatry research. Neuroimaging (30.10.2014)
Published in Psychiatry research. Neuroimaging (30.10.2014)
Get full text
Journal Article