Search Results - "Alonso Luengo, Olga"

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum by Santos-Gómez, Ana, Miguez-Cabello, Federico, Juliá-Palacios, Natalia, García-Navas, Deyanira, Soto-Insuga, Víctor, García-Peñas, Juan J, Fuentes, Patricia, Ibáñez-Micó, Salvador, Cuesta, Laura, Cancho, Ramón, Andreo-Lillo, Patricia, Gutiérrez-Aguilar, Gema, Alonso-Luengo, Olga, Málaga, Ignacio, Hedrera-Fernández, Antonio, García-Cazorla, Àngels, Soto, David, Olivella, Mireia, Altafaj, Xavier

“…GRIN-related disorders (GRD), the so-called grinpathies, is a group of rare encephalopathies caused by mutations affecting genes (mostly , and genes), which…”
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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature by Gazdagh, Gabriella, Hunt, David, Gonzalez, Anna Maria Cueto, Rodriguez, Monserrat Pons, Chaudhry, Ayeshah, Madruga, Marcos, Vansenne, Fleur, Shears, Deborah, Curie, Aurore, Stattin, Eva‐Lena, Anderlid, Britt‐Marie, Trajkova, Slavica, Angelovska, Elena Sukarova, McWilliam, Catherine, Wyatt, Philip R., O'Driscoll, Mary, Atton, Giles, Bergman, Anke K., Zacher, Pia, Mewasingh, Leena D., López, Antonio Gonzalez‐Meneses, Alonso‐Luengo, Olga, Wai, Htoo A., Rohde, Ottilie, Boiroux, Pauline, Debant, Anne, Schmidt, Susanne, Baralle, Diana

“…The TRIO gene encodes a rho guanine exchange factor, the function of which is to exchange GDP to GTP, and hence to activate Rho GTPases, and has been described…”
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Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study by Stanescu, Sinziana, Correcher Medina, Patricia, del Castillo, Francisco J, Alonso Luengo, Olga, Arto Millan, Luis Maria, Belanger Quintana, Amaya, Camprodon Gomez, Maria, Diez Langhetée, Lydia, Garcia Campos, Oscar, Matas Garcia, Ana, Perez-Moreno, Jimena, Rubio Gribble, Barbara, Visa-Reñé, Nuria, Giraldo-Castellano, Pilar, O’Callaghan Gordo, Mar

“…This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype,…”
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Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood by 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

“…To perform a deep phenotype characterisation in a pedigree of 3 siblings with Leigh syndrome and compound heterozygous NDUFAF6 mutations. A multi-gene panel of…”
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Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13 by Borrego, Salud, Vázquez, Rocío, González-Meneses, Antonio, Alonso-Luengo, Olga, Peciña, Ana, Sánchez, Javier, Antiñolo, Guillermo

“…Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech…”
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L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study by Juliá-Palacios, Natalia, Olivella, Mireia, Sigatullina Bondarenko, Mariya, Ibáñez-Micó, Salvador, Muñoz-Cabello, Beatriz, Alonso-Luengo, Olga, Soto-Insuga, Víctor, García-Navas, Deyanira, Cuesta-Herraiz, Laura, Andreo-Lillo, Patricia, Aguilera-Albesa, Sergio, Hedrera-Fernández, Antonio, González Alguacil, Elena, Sánchez-Carpintero, Rocío, Martín Del Valle, Fernando, Jiménez González, Erika, Cean Cabrera, Lourdes, Medina-Rivera, Ines, Perez-Ordoñez, Marta, Colomé, Roser, Lopez, Laura, Engracia Cazorla, María, Fornaguera, Montserrat, Ormazabal, Aida, Alonso-Colmenero, Itziar, Illescas, Katia Sofía, Balsells-Mejía, Sol, Mari-Vico, Rosanna, Duffo Viñas, Maria, Cappuccio, Gerarda, Terrone, Gaetano, Romano, Roberta, Manti, Filippo, Mastrangelo, Mario, Alfonsi, Chiara, de Siqueira Barros, Bruna, Nizon, Mathilde, Gjerulfsen, Cathrine Elisabeth, Muro, Valeria L, Karall, Daniela, Zeiner, Fiona, Masnada, Silvia, Peterlongo, Irene, Oyarzábal, Alfonso, Santos-Gómez, Ana, Altafaj, Xavier, García-Cazorla, Ángeles

“…GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first…”
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Craniosynostosis as the first manifestation of an Albright's osteodystrophy associated with pseudohypoparathyroidism type 1A by García García, Emilio, Rivero Garvía, Mónica, Alonso Luengo, Olga

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Genetic diagnosis of basal ganglia disease in childhood by 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

“…AIM To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology,…”
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Craniosynostosis as the first manifestation of an Albright's osteodystrophy associated with pseudohypoparathyroidism type 1A by García García, Emilio, Rivero Garvía, Mónica, Alonso Luengo, Olga

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Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex by Jansen, Anna C, Belousova, Elena, Benedik, Mirjana P, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augères, Guillaume Beaure, de Vries, Petrus J, Ferreira, José C, Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A, Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C

“…This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the…”
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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study by Guillén-Navarro, Encarna, Domingo-Jiménez, María Rosario, Alcalde-Martín, Carlos, Cancho-Candela, Ramón, Couce, María Luz, Galán-Gómez, Enrique, Alonso-Luengo, Olga

“…Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate…”
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Targeted next generation sequencing in patients with infantile bilateral striatal necrosis by Ortigoza-Escobar, Juan Dario, Marti-Sanchez, Laura, Molero-Luis, Marta, Aviles, Carles, Baide, Heidy, Muchart, Jordi, Rebollo, Monica, Crow, Yannick J, Cabrera-Lopez, J.C, Madruga-Garrido, Marcos, Alonso-Luengo, Olga, Quijada-Fraile, Pilar, Martin-Hernandez, Elena, Garcia-Silva, Maria Teresa, Cerisola, Alfredo, Velazquez-Fragua, Ramon, Schuler, Elisabeth, Lopez-Laso, Eduardo, Gutierrez Solana, L.G

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Síndrome de Miller-Dieker: aportación de un caso con estudio ecográfico cerebral by Vaquerizo Madrid, Julián, Gómez Martín, Hilario, Rincón Rodera, P., Alonso Luengo, Olga

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