Myorhythmia‐Like Dyskinesia Affecting the Face and Ear Associated With Anti–N‐Methyl‐d‐Aspartate Receptor Encephalitis

بواسطة Camacho, Ana, Núñez, Noemí, Armangué, Thaís, Simón, Rogelio
الحاوية / القاعدة Mov Disord Clin Pract (2015)

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

بواسطة Fernández-Marmiesse, Ana, Roca, Iria, Díaz-Flores, Felícitas, Cantarín, Verónica, Pérez-Poyato, Mª Socorro, Fontalba, Ana, Laranjeira, Francisco, Quintans, Sofia, Moldovan, Oana, Felgueroso, Blanca, Rodríguez-Pedreira, Montserrat, Simón, Rogelio, Camacho, Ana, Quijada, Pilar, Ibanez-Mico, Salvador, Domingno, Mª Rosario, Benito, Carmen, Calvo, Rocío, Pérez-Cejas, Antonia, Carrasco, Mª Llanos, Ramos, Feliciano, Couce, Mª Luz, Ruiz-Falcó, Mª Luz, Gutierrez-Solana, Luis, Martínez-Atienza, Margarita
الحاوية / القاعدة Front Neurosci (2019)

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

بواسطة Arteche-López, Ana, Gómez Rodríguez, Maria José, Sánchez Calvin, Maria Teresa, Quesada-Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, Palma Milla, Carmen, Gómez-Manjón, Irene, Hidalgo Mayoral, Irene, Pérez de la Fuente, Rubén, Díaz de Bustamante, Arancha, Darnaude, María Teresa, Gil-Fournier, Belén, Ramiro León, Soraya, Ramos Gómez, Patricia, Sierra Tomillo, Olalla, Juárez Rufián, Alexandra, Arranz Cano, Maria Isabel, Villares Alonso, Rebeca, Morales-Pérez, Pablo, Segura-Tudela, Alejandro, Camacho, Ana, Nuñez, Noemí, Simón, Rogelio, Moreno-García, Marta, Alvarez-Mora, Maria Isabel
الحاوية / القاعدة Genes (Basel) (2021)

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

بواسطة Rice, Gillian I, Forte, Gabriella M A, Szynkiewicz, Marcin, Chase, Diana S, Aeby, Alec, Abdel-Hamid, Mohamed S, Ackroyd, Sam, Allcock, Rebecca, Bailey, Kathryn M, Balottin, Umberto, Barnerias, Christine, Bernard, Genevieve, Bodemer, Christine, Botella, Maria P, Cereda, Cristina, Chandler, Kate E, Dabydeen, Lyvia, Dale, Russell C, De Laet, Corinne, De Goede, Christian G E L, del Toro, Mireia, Effat, Laila, Enamorado, Noemi Nunez, Fazzi, Elisa, Gener, Blanca, Haldre, Madli, Lin, Jean-Pierre S-M, Livingston, John H, Lourenco, Charles Marques, Marques, Wilson, Oades, Patrick, Peterson, Pärt, Rasmussen, Magnhild, Roubertie, Agathe, Schmidt, Johanna Loewenstein, Shalev, Stavit A, Simon, Rogelio, Spiegel, Ronen, Swoboda, Kathryn J, Temtamy, Samia A, Vassallo, Grace, Vilain, Catheline N, Vogt, Julie, Wermenbol, Vanessa, Whitehouse, William P, Soler, Doriette, Olivieri, Ivana, Orcesi, Simona, Aglan, Mona S, Zaki, Maha S, Abdel-Salam, Ghada M H, Vanderver, Adeline, Kisand, Kai, Rozenberg, Flore, Lebon, Pierre, Crow, Yanick J
الحاوية / القاعدة Lancet Neurol (2013)