Search Results - "Yoldi, Eugenia"

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration by Sancho, Paula, Andrés-Bordería, Amparo, Gorría-Redondo, Nerea, Llano, Katia, Martínez-Rubio, Dolores, Yoldi-Petri, María Eugenia, Blumkin, Luba, Rodríguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernández-Murga, Leonor, Sánchez-Monteagudo, Ana, Lupo, Vincenzo, Pérez-Dueñas, Belén, Espinós, Carmen, Aguilera-Albesa, Sergio

“…(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin ( ) mutations has emerged, mimicking spinocerebellar ataxia,…”
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Effects of Osmotic-Release Methylphenidate on Height and Weight in Children With Attention-Deficit Hyperactivity Disorder (ADHD) Following up to Four Years of Treatment by Durá-Travé, Teodoro, Yoldi-Petri, María Eugenia, Gallinas-Victoriano, Fidel, Zardoya-Santos, Patricia

“…There is some controversy concerning \the potential negative influence of methylphenidate on growth. The authors reviewed clinical records of 187 patients with…”
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Congenital Cataract With Facial Dysmorphism and Neuropathy: Key Clinical Features by Mosquera-Gorostidi, Arantxa, MD, Aguilera-Albesa, Sergio, PhD, Yoldi-Petri, María Eugenia, MD

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Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome by Bobadilla-Quesada, Edna Julieth, Natera-de Benito, Daniel, Carrera-García, Laura, Ortez, Carlos, Exposito-Escudero, Jessica, Jimenez-Mallebrera, Cecilia, Jou, Cristina, Codina, Anna, Corbera, Joan, Moya, Obdulia, Saez, Veronica, Gonzalez-Quereda, Lidia, Gallano, Pia, Colomer, Jaume, Cuadras, Daniel, Medina, Julita, Yoldi, María Eugenia, Nascimento, Andrés

“…•Patients with GMPPB-CMS responded dramatically to pyridostigmine in a few hours.•A moderate decrease in motor function was found after being treated during…”
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Vitamin D deficiency in children with epilepsy taking valproate and levetiracetam as monotherapy by Durá-Travé, Teodoro, Gallinas-Victoriano, Fidel, Malumbres-Chacón, María, Moreno-Gónzalez, Paula, Aguilera-Albesa, Sergio, Yoldi-Petri, María Eugenia

“…•Vitamin D deficiency is common in children with epilepsy medicated with valproate or levetiracetam as monotherapy.•Monitoring of vitamin D levels should be…”
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Ictal Video-Electroencephalography Findings in Bathing Seizures: Two New Cases and Review of the Literature by Mosquera-Gorostidi, Arantxa, Azcona-Ganuza, Gurutzi, Yoldi-Petri, María Eugenia, García de Gurtubay, Iñaki, Aguilera-Albesa, Sergio

“…Reflex bathing seizures are described during the course of bathing in water near body temperature. These seizures differ from other epilepsies characterized by…”
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Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients by Navarro-Sastre, Aleix, Tort, Frederic, Garcia-Villoria, Judit, Pons, Mónica Ruiz, Nascimento, Andrés, Colomer, Jaume, Campistol, Jaume, Yoldi, Maria Eugenia, López-Gallardo, Ester, Montoya, Julio, Unceta, Maria, Martinez, Maria Jesús, Briones, Paz, Ribes, Antonia

“…Mitochondrial DNA depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a quantitative reduction of the…”
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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG) by Martínez‐Monseny, Antonio F., Bolasell, Mercè, Callejón‐Póo, Laura, Cuadras, Daniel, Freniche, Verónica, Itzep, Débora C., Gassiot, Susanna, Arango, Pedro, Casas‐Alba, Didac, Morena, Eugenia, Corral, Javier, Montero, Raquel, Pérez‐Cerdá, Celia, Pérez, Belén, Artuch, Rafael, Jaeken, Jaak, Serrano, Mercedes, Velázquez‐Fragua, Ramón, García, Oscar, Gutierrez‐Solana, Luis G, Macaya, Alfons, Pérez‐Dueñas, Belén, Aguilera‐Albesa, Sergio, López, Laura, Miranda, Ma Concepción, Carratala, Francisco, Yoldi, M Eugenia, López‐Laso, Eduardo, Sierra‐Córcoles, Ma Concepción, Sebastián‐García, Irma, Aísa, Eduardo, Cancho‐Candela, Ramon, Carrasco‐Marina, M Llanos, Couce, María L., Roldán, Susana, Muchart, Jordi, Morales, Montserrat, Conde‐Lorenzo, Noemi

“…Objective Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2‐CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs…”
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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization by Schlüter, Agatha, Rodríguez-Palmero, Agustí, Verdura, Edgard, Vélez-Santamaría, Valentina, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Martínez, Juan José, Guilera, Cristina, Girós, Marisa, Artuch, Rafael, Yoldi, María Eugenia, O'Callaghan, Mar, García-Cazorla, Angels, Armstrong, Judith, Marti, Itxaso, Mondragón Rezola, Elisabet, Redin, Claire, Mandel, Jean Louis, Conejo, David, Sierra-Córcoles, Concepción, Beltrán, Sergi, Gut, Marta, Vázquez, Elida, Del Toro, Mireia, Troncoso, Mónica, Pérez-Jurado, Luis A, Gutiérrez-Solana, Luis G, López de Munain, Adolfo, Casasnovas, Carlos, Aguilera-Albesa, Sergio, Macaya, Alfons, Pujol, Aurora

“…Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular…”
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Incidence of Epilepsies and Epileptic Syndromes Among Children in Navarre, Spain: 2002 Through 2005 by Durá-Travé, Teodoro, Yoldi-Petri, Maria Eugenia, Gallinas-Victoriano, Fidel

“…All incident cases of children living in Navarre, Spain, younger than 15 years of age with newly diagnosed epilepsy (2002-2005) were registered in a…”
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Neuroretinitis Caused by Bartonella henselae (Cat-Scratch Disease) in a 13-Year-Old Girl by Teodoro Durá-Travé, Maria Eugenia Yoldi-Petri, Fidel Gallinas-Victoriano, Ana Lavilla-Oiz, Marta Bove-Guri

“…Cat-scratch disease-related neuroretinitis is a relatively unusual pathology, with suspicious clinical epidemiological and serological diagnosis. We present a…”
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Recurring post-traumatic growing skull fracture by San Martín-García, Isabel, Aguilera-Albesa, Sergio, Zazpe-Cenoz, Idoya, Yoldi-Petri, M Eugenia

“…Growing skull fracture, also known as post-traumatic bone absorption or leptomeningeal cyst, is a rare complication of traumatic brain injuries and occurs…”
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Infantile convulsions with mild gastroenteritis: epidemiological and clinical characteristics and outcome by Durá-Travé, Teodoro, Yoldi-Petri, María Eugenia, Molins-Castiella, Teresa, Souto-Hernández, Silvia, Aguilera-Albesa, Sergio

“…To analyse the epidemiological, clinical and developmental characteristics of a group of children with seizures associated with mild gastroenteritis in order…”
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From gestalt to gene: early predictive dysmorphic features of PMM2-CDG by Martinez-Monseny, Antonio, Cuadras, Daniel, Bolasell, Mercè, Muchart, Jordi, Arjona, César, Borregan, Mar, Algrabli, Adi, Montero, Raquel, Artuch, Rafael, Velázquez-Fragua, Ramón, Macaya, Alfons, Pérez-Cerdá, Celia, Pérez-Dueñas, Belén, Pérez, Belén, Serrano, Mercedes

“…Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no…”
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Hallucinations caused by the introduction of methylphenidate at low doses by Aguilera-Albesa, Sergio, Yoldi-Petri, María Eugenia, Molins-Castiella, Teresa, Durá-Travé, Teodoro

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CAPN3 mutations in patients with idiopathic eosinophilic myositis by Krahn, Martin, Lopez De Munain, Adolfo, Streichenberger, Nathalie, Bernard, Rafaëlle, Pécheux, Christophe, Testard, Hervé, Pena-Segura, José L., Yoldi, Eugenia, Cabello, Ana, Romero, Norma B., Poza, Juan J., Bouillot-Eimer, Sandrine, Ferrer, Xavier, Goicoechea, Maria, Garcia-Bragado, Federico, Leturcq, France, Urtizberea, J. Andoni, Lévy, Nicolas

“…Objective Eosinophilic myositis (EM) constitutes a rare pathological entity characterized by eosinophilic infiltration of skeletal muscles, usually associated…”
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A comparative study of three systems for quantifying the spike and wave index in patients with continuous spikes and waves during slow sleep by Azcona, G, Gurtubay, I G, Mosquera, A, Ibanez, B, Cambra, K, Aguilera-Albesa, S, Yoldi-Petri, M E

“…Continuous spikes and waves during slow sleep (CSWS) is an epileptic encephalopathy of childhood with a pattern of epileptiform discharges during sleep, which,…”
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Epilepsy in Children in Navarre, Spain: Epileptic Seizure Types and Epileptic Syndromes by Durá-Travé, Teodoro, Yoldi-Petri, María Eugenia, Gallinas-Victoriano, Fidel

“…Data for children 1 month to 15 years of age at the time of diagnosis of epilepsy were recorded from the children's hospital “Virgen del Camino” in Pamplona…”
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Electrical status epilepticus during sleep: a retrospective multi-centre study of 29 cases by Lorenzo-Ruiz, María, Miguel-Martin, Beatriz, García-Pérez, Asunción, Martínez-Granero, Miguel A, Aguilera-Albesa, Sergio, Yoldi-Petri, M Eugenia, Sánchez-Ruiz de Gordoa, Javier, Castro-De Castro, Pedro, Sánchez-Carpintero, Rocío

“…Electrical status epilepticus during sleep (ESES) is an epileptic syndrome characterised by the presence of very persistent slow spike-wave-type epileptic…”
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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy by Pant, Devesh C, Dorboz, Imen, Schluter, Agatha, Fourcade, Stéphane, Launay, Nathalie, Joya, Javier, Aguilera-Albesa, Sergio, Yoldi, Maria Eugenia, Casasnovas, Carlos, Willis, Mary J, Ruiz, Montserrat, Ville, Dorothée, Lesca, Gaetan, Siquier-Pernet, Karine, Desguerre, Isabelle, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Brady, Lauren, Tarnopolsky, Mark, Cornet, Carles, Rubbini, Davide, Terriente, Javier, James, Kiely N, Musaev, Damir, Zaki, Maha S, Patterson, Marc C, Lanpher, Brendan C, Klee, Eric W, Pinto E Vairo, Filippo, Wohler, Elizabeth, Sobreira, Nara Lygia de M, Cohen, Julie S, Maroofian, Reza, Galehdari, Hamid, Mazaheri, Neda, Shariati, Gholamreza, Colleaux, Laurence, Rodriguez, Diana, Gleeson, Joseph G, Pujades, Cristina, Fatemi, Ali, Boespflug-Tanguy, Odile, Pujol, Aurora

“…Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole-exome sequencing in patients…”
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