Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2 von Valenzuela, Irene, Guillén Benítez, Elena, Sanchez‐Montanez, Angel, Limeres, Javier, López‐Grondona, Fermina, Cuscó, Ivon, Tizzano, Eduardo F.

Volltext

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood von Baide-Mairena, Heidy, Gaudó, Paula, Marti-Sánchez, Laura, Emperador, Sonia, Sánchez-Montanez, Angel, Alonso-Luengo, Olga, Correa, Marta, Grau, Anna Marcè, Ortigoza-Escobar, Juan Darío, Artuch, Rafael, Vázquez, Elida, Del Toro, Mireia, Garrido-Pérez, Nuria, Ruiz-Pesini, Eduardo, Montoya, Julio, Bayona-Bafaluy, María Pilar, Pérez-Dueñas, Belén

Volltext

Primary endovascular treatment for acute ischemic stroke in teenage patients: a short case series von Parra-Fariñas, Carmen, Dmytriw, Adam A., Delgado-Álvarez, Ignacio, Sánchez-Montánez, Ángel, de Miquel, Maria Angeles, Sola, Teresa, Felipe-Rucián, Ana, Macaya, Alfons, Tomasello, Alejandro, Ribó, Marc, Vázquez-Méndez, Élida

Volltext

Epileptic encephalopathy after HHV6 post-transplant acute limbic encephalitis in children: Confirmation of a new epilepsy syndrome von Raspall-Chaure, Miquel, Armangué, Thaís, Elorza, Izaskun, Sanchez-Montanez, Àngel, Vicente-Rasoamalala, Mònica, Macaya, Alfons

Volltext

Leigh syndrome associated with TRMU gene mutations von Sala-Coromina, Júlia, Miguel, Lucía Dougherty-de, de las Heras, Javier, Lasa-Aranzasti, Amaia, Garcia-Arumi, Elena, Carreño, Lidia, Arranz, Jose Antonio, Carnicer, Clara, Unceta-Suárez, María, Sanchez-Montañez, Angel, Gort, Laura, Tort, Frederic, del Toro, Mireia

Volltext

Measurements of signal intensity of globus pallidus and dentate nucleus suggest different deposition characteristics of macrocyclic GBCAs in children von Olchowy, Cyprian, Maciąg, Ewa J, Sanchez-Montanez, Angel, Olchowy, Anna, Delgado, Ignacio, Vazquez, Elida

Volltext

Surgical Outcomes in Chiari 1 and Chiari 1.5 Malformation Treated by Posterior Fossa Reconstruction: A Comprehensive Analysis of 110 Pediatric Cases and Literature Review von Poca, Maria A, Lopez-Bermeo, Diego, Moncho, Dulce, Ferre, Alex, Sanchez-Montañez, Angel, Mestres, Olga, Galve, Sandra, Sahuquillo, Juan

Volltext

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort von Quijano-Roy, Susana, Haberlova, Jana, Castiglioni, Claudia, Vissing, John, Munell, Francina, Rivier, François, Stojkovic, Tanya, Malfatti, Edoardo, Gómez García de la Banda, Marta, Tasca, Giorgio, Costa Comellas, Laura, Benezit, Audrey, Amthor, Helge, Dabaj, Ivana, Gontijo Camelo, Clara, Laforêt, Pascal, Rendu, John, Romero, Norma B., Cavassa, Eliana, Fattori, Fabiana, Beroud, Christophe, Zídková, Jana, Leboucq, Nicolas, Løkken, Nicoline, Sanchez-Montañez, Ángel, Ortega, Ximena, Kynčl, Martin, Metay, Corinne, Gómez-Andrés, David, Carlier, Robert Y.

Volltext

Genetic diagnosis of basal ganglia disease in childhood von Baide‐Mairena, Heidy, Marti‐Sánchez, Laura, Marcé‐Grau, Anna, Cazurro‐Gutiérrez, Ana, Sanchez‐Montanez, Angel, Delgado, Ignacio, Moreno‐Galdó, Antonio, Macaya‐Ruiz, Alfons, García‐Arumí, Elena, Pérez‐Dueñas, Belén

Volltext

Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings von de Grazia, Jose, Delgado, Ignacio, Sanchez-Montanez, Angel, Boronat, Susana, del Campo, Miguel, Vazquez, Elida

Volltext

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation von Valenzuela, Irene, MD, Fernández-Alvarez, Paula, MSc, Munell, Francina, MD, PhD, Sanchez-Montanez, Angel, MD, Giralt, Gemma, MD, Vendrell, Teresa, MD, Tizzano, Eduardo F., MD, PhD

Volltext

Etanercept-Induced Myelopathy in a Pediatric Case of Blau Syndrome von Caracseghi, Fabiola, Roig-Quilis, Manuel, Sanchez-Montanez, Angel, Melendo-Perez, Susana, Modesto, Consuelo, Izquierdo-Blasco, Jaume

Volltext

Delineating the neurological phenotype in children with defects in theECHS1orHIBCHgene von Marti-Sanchez, Laura, Baide-Mairena, Heidy, Marce-Grau, Anna, Pons, Roser, Skouma, Anastasia, Lopez-Laso, Eduardo, Sigatullina, Maria, Rizzo, Cristiano, Semeraro, Michela, Martinelli, Diego, Carrozzo, Rosalba, Dionisi-Vici, Carlo, Gonzalez-Gutierrez-Solana, Luis, Correa-Vela, Marta, Dario Ortigoza-Escobar, Juan, Sanchez-Montanez, Angel, Vazquez, Elida, Delgado, Ignacio, Aguilera-Albesa, Sergio, Eugenia Yoldi, Maria, Ribes, Antonia, Tort, Frederic, Pollini, Luca, Galosi, Serena, Leuzzi, Vincenzo, Tolve, Manuela, Perez-Gay, Laura, Aldamiz-Echevarria, Luis, Del Toro, Mireia, Arranz, Antonio, Roelens, Filip, Urreizti, Roser, Artuch, Rafael, Macaya, Alfons, Perez-Duenas, Belen

Volltext

A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy von Mohassel, Payam, Yun, Pomi, Syeda, Safoora, Batra, Abhinandan, Bradley, Andrew J., Donkervoort, Sandra, Monges, Soledad, Cohen, Julie S., Leung, Doris G., Munell, Francina, Ortez, Carlos, Sánchez‐Montáñez, Angel, Karachunski, Peter, Brandsema, John, Medne, Livija, Chaudhry, Vinay, Tasca, Giorgio, Foley, A. Reghan, Udd, Bjarne, Arai, Andrew E., Walter, Glenn A., Bönnemann, Carsten G.

Volltext

Reversible cerebral vasoconstriction mimicking posterior reversible encephalopathy syndrome in an infant with end-stage renal disease von Sanchez-Montanez, Angel, Morana, Giovanni, Mancardi, Maria Margherita, Janis, Sara, Severino, Mariasavina, Verrina, Enrico, Rossi, Andrea

Volltext

Paraneoplastic limbic encephalitis in a male with squamous cell carcinoma of the lung von Sauri, Tamara, Izquierdo, Àngel, Ramió-Torrentà, LLuis, Sanchez-Montañez, Àngel, Bosch-Barrera, Joaquim, Porta, Rut

Volltext

Side effects of oncologic therapies in the pediatric central nervous system: update on neuroimaging findings von Vázquez, Elida, Delgado, Ignacio, Sánchez-Montañez, Angel, Barber, Ignasi, Sánchez-Toledo, José, Enríquez, Goya

Volltext

Brain paraneoplastic syndromes in a patient with mediastinal ganglioneuroma von Escudero-Fernandez, Jose Migue, Garcia-Carpintero, Angel Sánchez-Montañez, Delgado-Alvarez, Ignacio, Castellote-Alonso, Amparo, Vázquez-Mendez, Elida Josefa

Volltext

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests von Gómez‐Andrés, David, Díaz, Jorge, Munell, Francina, Sánchez‐Montáñez, Ángel, Pulido‐Valdeolivas, Irene, Suazo, Lionel, Garrido, Cristián, Quijano‐Roy, Susana, Bevilacqua, Jorge A.

Volltext

At-risk brain tissue identified with arterial spin labeling in neurotuberculosis von Margariti, Persefoni, Sanchez-Montanez, Angel, Delgado, Ignacio, Elorza Alvarez, Izaskun, Vazquez, Elida

Volltext