Molecular characterization of Spanish patients with MECP2 duplication syndrome
Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study
Vázquez-Costa, Juan F., Branas-Pampillón, María, Medina-Cantillo, Julita, Povedano, Mónica, Pitarch-Castellano, Inmaculada, López-Lobato, Mercedes, Fernández-Ramos, Joaquín A., Lafuente-Hidalgo, Miguel, Rojas-García, Ricard, Caballero-Caballero, José M., Málaga, Ignacio, Eirís-Puñal, Jesús, De Lemus, Mencía, Cattinari, María G., Cabello-Moruno, Rosana, Díaz-Abós, Paola, Sánchez-Menéndez, Victoria, Rebollo, Pablo, Maurino, Jorge, Madruga-Garrido, Marcos
Published in Neurology and therapy (01.02.2023)
Published in Neurology and therapy (01.02.2023)
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Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
Fernández-Ramos, Joaquín A., De la Torre-Aguilar, María José, Quintáns, Beatriz, Pérez-Navero, Juan Luis, Beyer, Katrin, López-Laso, Eduardo, Ochoa Sepúlveda, J.J., Serrano Cárdenas, J., Sobrido Gómez, M.J., Mora, M.D., Moreno-Medinilla, E., Ramos, J., Llorente, M., Teva, M.D., Castaño-de la Mota, C., Martínez-Ruiz, J., González Gutierrez-Solana, L., Martí, M.J., Gómez-Esteban, J.C., Hernandez-Vara, J., García Cazorla, Á., Artuch, R., Adarmes, A., Mir, P.
Published in Parkinsonism & related disorders (01.01.2022)
Published in Parkinsonism & related disorders (01.01.2022)
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The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Published in Molecular genetics and metabolism reports (01.12.2016)
Published in Molecular genetics and metabolism reports (01.12.2016)
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Response to everolimus in patients with giant cell astrocytoma associated to tuberous sclerosis complex
Mateos-González, M Elena, López-Laso, Eduardo, Vicente-Rueda, Josefina, Camino-León, Rafael, Fernández-Ramos, Joaquín A, Baena-Gómez, M Auxiliadora, Peña-Rosa, M José
Published in Revista de neurologiá (01.12.2014)
Published in Revista de neurologiá (01.12.2014)
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Front Cover
Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, del Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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Multiple cranial neuropathy: a case report of three paediatric patients
Sancho-Montero, N, Fernandez-Ramos, J A, Caballero-Rodriguez, C, Camino-Leon, R, Lopez-Laso, E
Published in Revista de neurologiá (16.10.2018)
Published in Revista de neurologiá (16.10.2018)
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Microcefalia primaria hereditaria de tipo 5. No todo es virus del Zika
Gascón Jiménez, Francisco Javier, Gallardo Hernández, Francisca Luisa, Fernández Ramos, Joaquín Alejandro, Aguilar Quintero, María, Camino León, Rafael, López Laso, Eduardo
Published in Revista de neurologiá (2018)
Published in Revista de neurologiá (2018)
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Experiencia en el diagnóstico molecular de neuropatías hereditarias en un hospital pediátrico de tercer nivel
Fernández Ramos, Joaquín Alejandro, López Laso, Eduardo, Camino León, Rafael, Gascón Giménez, Francisco, Jiménez González, Mª Dolores
Published in Revista de neurologiá (2015)
Published in Revista de neurologiá (2015)
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Respuesta a everolimús en pacientes con astrocitoma de células gigantes asociado al complejo esclerosis tuberosa
Mateos González, Mª Elena, López Laso, Eduardo, Vicente Rueda, Josefina, Camino León, Rafael, Fernández Ramos, Joaquín Alejandro, Baena Gómez, María Auxiliadora, Peña Rosa, María José
Published in Revista de neurologiá (2014)
Published in Revista de neurologiá (2014)
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