Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene
Baquedano‐Lobera, Irene, Romero‐Salas, Yolanda, Ros‐Arnal, Ignacio, Miramar‐Gallart, María Dolores, López‐Pisón, Javier, Corona‐Bellostas, Carolina, García‐Romero, Ruth
Published in Clinical genetics (01.05.2021)
Published in Clinical genetics (01.05.2021)
Get full text
Journal Article
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females
Marcé-Grau, Anna, Dalton, James, López-Pisón, Javier, García-Jiménez, María Concepción, Monge-Galindo, Lorena, Cuenca-León, Ester, Giraldo, Jesús, Macaya, Alfons
Published in Orphanet journal of rare diseases (12.04.2016)
Published in Orphanet journal of rare diseases (12.04.2016)
Get full text
Journal Article
Idiopathic intracranial hypertension: Experience over 25 years and a management protocol
Monge Galindo, Lorena, Fernando Martínez, Ruth, Fuertes Rodrigo, Cristina, Fustero de Miguel, David, Pueyo Royo, Victoria, García Iñiguez, Juan Pablo, López-Pisón, Javier, Peña-Segura, José Luis
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2017)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2017)
Get full text
Journal Article
Prognosis of non-symptomatic epilepsy in relation to their age of onset, monitored at a neuropediatric section of regional reference over a period of three years
Ochoa-Gómez, Laura, López-Pisón, Javier, Fuertes-Rodrigo, Cristina, Fernando-Martínez, Ruth, Samper-Villagrasa, Pilar, Monge-Galindo, Lorena, Peña-Segura, José Luis
Published in Revista de neurologiá (16.02.2016)
Published in Revista de neurologiá (16.02.2016)
Get full text
Journal Article
A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit
Ochoa-Gómez, Laura, López-Pisón, Javier, Lapresta Moros, Carlos, Fuertes Rodrigo, Cristina, Fernando Martínez, Ruth, Samper-Villagrasa, Pilar, Monge-Galindo, Lorena, Peña-Segura, José Luis, García-Jiménez, María Concepción
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.01.2017)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.01.2017)
Get full text
Journal Article
Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases
Ortiz-Madinaveitia, Saturnino, Conejo-Moreno, David, López-Pisón, Javier, Peña-Segura, José Luis, Serrano-Madrid, M Luisa, Durán-Palacios, Ingrid C, Peláez-Cabo, Pilar
Published in Revista de neurologiá (16.02.2016)
Published in Revista de neurologiá (16.02.2016)
Get full text
Journal Article
Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family
González-Pérez, Jesús, Izquierdo-Álvarez, Silvia, Fuertes-Rodrigo, Cristina, Monge-Galindo, Lorena, Peña-Segura, José Luis, López-Pisón, Francisco Javier
Published in Medicina clinica (01.04.2016)
Published in Medicina clinica (01.04.2016)
Get more information
Journal Article
Gorlin syndrome in the paediatric age
Roncalés-Samanes, P, Peña-Segura, J L, Fernando-Martínez, R, Fuertes-Rodrigo, C, García-Oguiza, A, López-Pisón, J
Published in Revista de neurologiá (01.04.2014)
Published in Revista de neurologiá (01.04.2014)
Get full text
Journal Article
Mesial temporal sclerosis in paediatrics: its clinical spectrum. Our experience gained over a 19-year period
Monge-Galindo, Lorena, Pérez-Delgado, Raquel, López-Pisón, Javier, Lafuente-Hidalgo, Miguel, del Olmo-Izuzquiza, Ignacio Ruiz, Peña-Segura, José Luis
Published in Revista de neurologiá (16.03.2010)
Published in Revista de neurologiá (16.03.2010)
Get full text
Journal Article
Progressive spastic paraparesis and static syringomyelia: Silver syndrome/SPG17
Lafuente-Hidalgo, Miguel, Peña-Segura, José L, Ranz-Angulo, Rosana, García-Oguiza, Alberto, Pérez-Delgado, Raquel, Izquierdo-Álvarez, Silvia, López-Pisón, Javier
Published in Revista de neurologiá (16.08.2015)
Published in Revista de neurologiá (16.08.2015)
Get full text
Journal Article
Cerebrovascular accidents in paediatric care. Our experience gained over an 18-year period
Ruiz del Olmo-Izuzquiza, Ignacio, de Arriba-Muñoz, Antonio, López-Pisón, Javier, García-Iñiguez, Juan Pablo, Romero-Gil, Ruth, Monge-Galindo, Lorena, Pérez-Delgado, Raquel, Peña-Segura, José Luis
Published in Revista de neurologiá (01.01.2010)
Published in Revista de neurologiá (01.01.2010)
Get full text
Journal Article
Clinical impact of translocation t(7;15) (p22;q26) on several family members
Caballero Pérez, Victoria, López-Pisón, Francisco Javier, Miramar Gallart, María Dolores, González Álvarez, Alejandro, García Jiménez, María Concepción
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2017)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2017)
Get full text
Journal Article
Intracranial arachnoid cysts and epilepsy in children: Should this be treated surgically? Our 29-year experience and review of the literature
Orduna Martínez, Javier, López Pisón, Javier, Curto Simón, Beatriz, García-Iñiguez, Juan Pablo, Samper Villagrasa, Pilar, Lafuente Hidalgo, Miguel
Published in Neurocirugía (Asturias, Spain) (01.07.2022)
Published in Neurocirugía (Asturias, Spain) (01.07.2022)
Get full text
Journal Article
Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review
Pedro Baena, Sonia, Sariego Jamardo, Andrea, Castro, Pedro, López González, Francisco Javier, Sánchez Carpintero, Rocío, Cerisola, Alfredo, Troncoso, Mónica, Witting, Scarlet, Barrios, Andrés, Fons, Carmen, López Pisón, Javier, Ortigoza‐Escobar, Juan Darío
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.11.2023)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.11.2023)
Get full text
Journal Article
Different Brain Phenotypes in Magnetic Resonance Imaging of Healthy Children after Prenatal Insults
Paules, Cristina, Pérez Roche, María Teresa, Marin, Miguel Angel, Fayed, Nicolás, García-Martí, Gracián, Pisón, Javier López, Oros, Daniel, Pueyo, Victoria
Published in Diagnostics (Basel) (01.11.2022)
Published in Diagnostics (Basel) (01.11.2022)
Get full text
Journal Article
Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis associated to papilloedema
Monge-Galindo, Lorena, López-Pisón, Javier, Gracia-Torralba, Lorena, García-Iñiguez, Juan P, Velasco-Manrique, Marta, Peña-Segura, José L
Published in Revista de neurologiá (16.06.2011)
Published in Revista de neurologiá (16.06.2011)
Get full text
Journal Article