Search Results - "Verdú, Alfonso"

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome by Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith

“…Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been…”
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Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option by Pérez, Belén, Gutiérrez‐Solana, Luis González, Verdú, Alfonso, Merinero, Begoña, Yuste‐Checa, Patricia, Ruiz‐Sala, Pedro, Calvo, Rocio, Jalan, Anil, Marín, Laura López, Campos, Oscar, Ruiz, Maria Ángeles, Miguel, Marta San, Vázquez, Maria, Castro, Margarita, Ferrer, Isaac, Navarrete, Rosa, Desviat, Lourdes Ruiz, Lapunzina, Pablo, Ugarte, Magdalena, Pérez‐Cerdá, Celia

“…Summary Purpose Pyridoxine‐dependent epilepsy seizure (PDE; OMIM 266100) is a disorder associated with severe seizures that can be controlled pharmacologically…”
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Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1 by Giráldez, Beatriz G, Guerrero-López, Rosa, Ortega-Moreno, Laura, Verdú, Alfonso, Carrascosa-Romero, M. Carmen, García-Campos, Óscar, García-Muñozguren, Susana, Pardal-Fernández, José Manuel, Serratosa, José M

“…Highlights • We report a new case of spinal muscular atrophy and progressive myoclonic epilepsy harboring a homozygous ASAH1 c.125C>T mutation due to paternal…”
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Trigeminal Neuralgia in a Child With a Cerebellopontine Angle Arachnoid Cyst by Grande-Martín, Alberto, MD, Díaz-Conejo, Raquel, MD, Verdú-Pérez, Alfonso, PhD, Hernández-Moneo, José-Luis, MD

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Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient by Blázquez, Alberto, Gil-Borlado, Mari Carmen, Morán, María, Verdú, Alfonso, Cazorla-Calleja, María Rosario, Martín, Miguel A, Arenas, Joaquín, Ugalde, Cristina

“…Abstract Mutations in BCS1L , a respiratory chain complex III assembly chaperone, constitute a major cause of mitochondrial complex III deficiency and are…”
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Varicella encephalopathy in immunocompetent children by Carreño, Amparo, López‐Herce, Jesús, Verdú, Alfonso, Riaza, Mónica, García, Elena

“…:  Two previously healthy girls presented acute encephalopathy due to varicella, with severe alteration of the conscious level and seizures. Both patients…”
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Neuroimage Findings in 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency by Cazorla, María R., MD, Verdú, Alfonso, MD, PhD, Pérez-Cerdá, Celia, PhD, Ribes, Antonia, PhD

“…A case of 2-methyl-3-hydroxybutyryl–coenzyme A dehydrogenase deficiency, an X-linked defect of isoleucine degradation, is reported. A 10-month-old male infant…”
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Delineation of the motor disorder of Lesch–Nyhan disease by Jinnah, H. A., Visser, Jasper E., Harris, James C., Verdu, Alfonso, Larovere, Laura, Ceballos-Picot, Irene, Gonzalez-Alegre, Pedro, Neychev, Vladimir, Torres, Rosa J., Dulac, Olivier, Desguerre, Isabelle, Schretlen, David J., Robey, Kenneth L., Barabas, Gabor, Bloem, Bastiaan R., Nyhan, William, De Kremer, Raquel, Eddey, Gary E., Puig, Juan G., Reich, Stephen G.

“…Lesch–Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals…”
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Late Infantile Neuronal Ceroid Lipofuscinosis: Mutations in the CLN2 Gene and Clinical Course in Spanish Patients by 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

“…Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene. The authors report the…”
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Early infantile epileptic encephalopathy with unusual favourable outcome by Cazorla, María Rosario, Verdú, Alfonso, Montes, Carmen, Ayuga, Fernando

“…Abstract The authors report the case of an infant suffered from early infantile epileptic encephalopathy with suppression–burst, or Ohtahara syndrome, a severe…”
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Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes by Ortega-Moreno, Laura, Giráldez, Beatriz G, Soto-Insuga, Victor, Losada-Del Pozo, Rebeca, Rodrigo-Moreno, María, Alarcón-Morcillo, Cristina, Sánchez-Martín, Gema, Díaz-Gómez, Esther, Guerrero-López, Rosa, Serratosa, José M

“…Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential…”
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Pregnancy Outcome in a Woman Exposed to Continuous Intrathecal Baclofen Infusion by Muñoz, Francisco Calderón, Marco, David García, Pérez, Alfonso Verdú, Camacho, Manuela Martínez

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Cost-effectiveness of buccal midazolam in the treatment of prolonged convulsive seizures in the outpatient setting in Spain by Raspall-Chaure, Miquel, Martinez-Bermejo, Antonio, Sanchez-Carpintero, Rocío, Ruiz-Falco Rojas, M Luz, Verdu-Perez, Alfonso, Smeyers-Dura, Patricia, Camino-Leon, Rafael, Sanmarti, Francesc X, Santos-Borbujo, José, Pico, Gustavo, Blanco-Barca, Oscar, Cebollero, M Antonia

“…To be able to treat prolonged epileptic crises practical, safe and effective rescue medication is needed. Today, the standard treatment in community healthcare…”
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients by Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, Judith

“…Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X…”
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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome by Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith

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Dandy–Walker malformation in an infant with tetrasomy 9p by Cazorla Calleja, Marı́a R., Verdú, Alfonso, Félix, Valentin

“…An infant with Dandy–Walker malformation and prenatally diagnosed tetrasomy 9p is reported. Chromosomal analysis of primary amniocyte culture revealed true…”
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Prenatal stroke in a neonate heterozygous for factor V Leiden mutation by Verdu, Alfonso, Cazorla, María R., Moreno, Juan C., Casado, Luis F.

“…The authors report an infant with congenital hemiplegia associated to heterozygousity for factor V Leiden. Prenatal stroke in the left cerebral hemisphere was…”
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The "Five Ranks" Dialectic of the Sōtō-Zen School in the Light of Kuei-Fêng Tsung-Mi's "Ariya-Shiki" Scheme by Verdu, Alfonso

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Familial Arachnoid Cysts by Arriola, Gema, Castro, Pedro de, Verdú, Alfonso

“…Arachnoid cysts are a relatively common incidental finding on neuroimaging studies of the brain. Although most cases are sporadic, there have been some reports…”
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Basilar artery thrombosis in a child heterozygous for factor V Leiden mutation by Verdú, Alfonso, Cazorla, Marı́a R, Granados, Miguel A, Alonso, José A, Casado, Luis F

“…Activated protein C resistance, usually because of factor V Leiden mutation, is considered to be the most common hereditary prothrombotic condition. A…”
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