Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Mar, O'Callaghan"'
Autor:
Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalo
Externí odkaz:
https://doaj.org/article/166caca1761d48df939f150c72881fb8
Autor:
Sinziana Stanescu, Patricia Correcher Medina, Francisco J. del Castillo, Olga Alonso Luengo, Luis Maria Arto Millan, Amaya Belanger Quintana, Maria Camprodon Gomez, Lydia Diez Langhetée, Oscar Garcia Campos, Ana Matas Garcia, Jimena Perez-Moreno, Barbara Rubio Gribble, Nuria Visa-Reñé, Pilar Giraldo-Castellano, Mar O’Callaghan Gordo
Publikováno v:
Biomedicines, Vol 11, Iss 10, p 2861 (2023)
This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 f
Externí odkaz:
https://doaj.org/article/5e5a3a4353424e60994aaa7c5732e1bf
Autor:
Paredes-Fuentes, Abraham J., Cesar, Sergi, Montero, Raquel, Latre, Cristina, Genovès, Jordi, Martorell, Loreto, Cuadras, Daniel, Colom, Helena, Pineda, Mercè, del Mar O’Callaghan, Maria, Sarquella-Brugada, Georgia, Darling, Alejandra, Artuch, Rafael
Publikováno v:
In Biomedicine & Pharmacotherapy November 2021 143
Autor:
Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Abstract Background Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and speech delay, hypoton
Externí odkaz:
https://doaj.org/article/92ae34d47439495b8fb61f31cc49ae89
Autor:
Abraham J. Paredes-Fuentes, Sergi Cesar, Raquel Montero, Cristina Latre, Jordi Genovès, Loreto Martorell, Daniel Cuadras, Helena Colom, Mercè Pineda, Maria del Mar O’Callaghan, Georgia Sarquella-Brugada, Alejandra Darling, Rafael Artuch
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 143, Iss , Pp 112143- (2021)
Introduction and objectives: Despite the growing interest and the potential benefits of idebenone as a repurposed drug for different orphan conditions, data regarding its monitoring are scarce. Our main goal was to report plasma idebenone values in a
Externí odkaz:
https://doaj.org/article/15ecb880ce73489ea9a702ce038b780f
Autor:
Maria del Mar, O'Callaghan, Garcia-Cazorla, Àngels, del Carmen Serrano Munuera, Maria, García, Silvia Cuso, Troncoso, Monica, Fariña, Guillermo, García Peñas, Juan José, Fournier, Belen Gil, León, Soraya Ramiro, Guitart, Miriam, Baena, Neus, de Nanclares, Guiomar Perez, Oci, Intzane Ocio, Gutiérrez-Delicado, Eva, Abarrategui, Belén, Barroso, Eva, Santos-Simarro, Fernando, Lapunzina, Pablo, García, Francisco J., Acedo, Juan M., García, Asunción, Martinez, Miguel A., Martínez-Bermejo, Antonio, Vidal, S., Brandi, N., Pacheco, P., Maynou, J., Fernandez, G., Xiol, C., Pascual-Alonso, A., Pineda, M., Armstrong, J.
Publikováno v:
In European Journal of Paediatric Neurology July 2019 23(4):609-620
Akademický článek
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Autor:
Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/8843af3e508f46809b9ffcd7f84bf86f
Autor:
Guillem Pintos-Morell, Javier Blasco-Alonso, María L. Couce, Luís G. Gutiérrez-Solana, Encarna Guillén-Navarro, Mar O'Callaghan, Mireia del Toro
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 116-120 (2018)
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the experience of seven pediatric M
Externí odkaz:
https://doaj.org/article/1f77c5dc79bb44c49260e6df081c6923
Autor:
Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga, Elena Martin-Hernández, Maria del Mar O’Callaghan, Alberto Pérez del Soto, Yolanda Ruiz del Prado, Ignacio Sancho-Val, Pablo Sanjurjo, Miguel Pocovi, Pilar Giraldo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)
Abstract Background The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many co
Externí odkaz:
https://doaj.org/article/1a7e6eaf92fa43ff82a354ce89bf3c57