Zobrazeno 1 - 10
of 139
pro vyhledávání: '"Alberto Fernández Jaén"'
Autor:
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
The protein SLITRK2 plays an important role in synaptic communication. This study identifies X-linked SLITRK2 variants that underlie neurodevelopmental disorders by impairing excitatory synapses.
Externí odkaz:
https://doaj.org/article/939b1e803648458f978aa0c525329996
Autor:
María Jesús Mardomingo Sanz, Carlos Sancho Mateo, Begoña Soler López, Patricia Alcindor Huelva, Luis Artiles Pérez, Joan Bastardas Sardan, Oscar Blanco Barca, Cristina Casal Pena, José Casas Rivero, Rafael de Burgos Marín, Teresa de Santos Moreno, Oscar Durán Forteza, Alberto Fernández Jaén, Ingrid Filippidis Semino, David Fraguas Herráez, Fidel J. García Sánchez, Jorge Miguel García Téllez, José Antonio Gómez Sánchez, Balma Gómez Vicente, Montserrat Hernández Martínez, Abigail Huertas Patón, María Luisa Joga Elvira, Francisco José Lara Cabeza, María Jesús Luna Ibáñez, Marcos Madruga Garrido, Ignacio Málaga Dieguez, Claudia Matos Spohring, Sacramento Mayoral Moyano, José A. Mazaira Castro, Ricardo Alberto Migliorelli Toppi, Leonor Montoliu Tamarit, José Juan Muro Romero, Enrique Ortega García, Carmen Ortiz de Zárate Aguirresarube, Tamara Pablos Sánchez, Alfonso Pavón Puey, Beatriz Payá Gonzaléz, José Carlos Peláez, Iván Pérez Eguiagaray, Benjamín Piñeiro Dieguez, Eloy Rodríguez Arrebola, Andrés Rodríguez Sacristán Cascajo, Helena Romero Escobar, Javier Royo Moya, María José Ruiz Lozano, María Angustias Salmerón Ruiz, Carmen Sánchez García del Castillo, Joaquín María Sole Montserrat, Rosario Vacas Moreira, Magdalena Valverde Gómez.
Publikováno v:
Anales de Pediatría, Vol 90, Iss 6, Pp 349-361 (2019)
Resumen: Introducción: El trastorno por déficit de atención con hiperactividad (TDAH) y su comorbilidad repercuten en la ansiedad social de niños y adolescentes, no obstante, apenas hay estudios que aborden este tema en la adolescencia. El objeti
Externí odkaz:
https://doaj.org/article/5d6adc67d909458da6f5f39c1137a718
Autor:
María Jesús Mardomingo Sanz, Carlos Sancho Mateo, Begoña Soler López, Patricia Alcindor Huelva, Luis Artiles Pérez, Joan Bastardas Sardan, Oscar Blanco Barca, Cristina Casal Pena, José Casas Rivero, Rafael de Burgos Marín, Teresa de Santos Moreno, Oscar Durán Forteza, Alberto Fernández Jaén, Ingrid Filippidis Semino, David Fraguas Herráez, Fidel J. García Sánchez, Jorge Miguel García Téllez, José Antonio Gómez Sánchez, Balma Gómez Vicente, Montserrat Hernández Martínez, Abigail Huertas Patón, María Luisa Joga Elvira, Francisco José Lara Cabeza, María Jesús Luna Ibáñez, Marcos Madruga Garrido, Ignacio Málaga Dieguez, Claudia Matos Spohring, Sacramento Mayoral Moyano, José A. Mazaira Castro, Ricardo Alberto Migliorelli Toppi, Leonor Montoliu Tamarit, José Juan Muro Romero, Enrique Ortega García, Carmen Ortiz de Zárate Aguirresarube, Tamara Pablos Sánchez, Alfonso Pavón Puey, Beatriz Payá Gonzaléz, José Carlos Peláez, Iván Pérez Eguiagaray, Benjamín Piñeiro Dieguez, Eloy Rodríguez Arrebola, Andrés Rodríguez Sacristán Cascajo, Helena Romero Escobar, Javier Royo Moya, María José Ruiz Lozano, María Angustias Salmerón Ruiz, Carmen Sánchez García del Castillo, Joaquín María Sole Montserrat, Rosario Vacas Moreira, Magdalena Valverde Gómez
Publikováno v:
Anales de Pediatría (English Edition), Vol 90, Iss 6, Pp 349-361 (2019)
Introduction: Attention-deficit/hyperactivity disorder (ADHD) and its comorbidities have an impact on the social anxiety of children and adolescents, but there are practically no studies addressing this topic in adolescence. Our objective was to asse
Externí odkaz:
https://doaj.org/article/79a7155d086c4b8ba04838eef096ee71
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:
Hans J. Moldenhauer, Ria L. Dinsdale, Sara Alvarez, Alberto Fernández-Jaén, Andrea L. Meredith
Publikováno v:
Current Research in Physiology, Vol 5, Iss , Pp 404-413 (2022)
BK K+ channels are critical regulators of neuron and muscle excitability, comprised of a tetramer of pore-forming αsubunits from the KCNMA1 gene and cell- and tissue-selective β subunits (KCNMB1-4). Mutations in KCNMA1 are associated with neurologi
Externí odkaz:
https://doaj.org/article/737c53f79ea148cf98936af77eadc7ce
Publikováno v:
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Universidad Europea (UEM)
Sin financiación 3.109 JCR (2020) Q3, 115/208 Clinical Neurology 0.550 SJR (2021) Q2, 1131/2489 Medicine (miscellaneous) No data IDR 2020 UEM
Autor:
Daniel Martín Fernández-Mayoralas, Jacobo Albert, Sara López-Martín, Mar Jiménez de la Peña, Ana Laura Fernández-Perrone, Ana Jiménez de Domingo, Beatriz Calleja-Pérez, Mónica Martínez-García, Sara Álvarez, Alberto Fernández-Jaén
Publikováno v:
Molecular Syndromology. 13:165-170
Bi-allelic mutations in the TUBGCP4 gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-ol
Autor:
Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, Rosanna Weksberg
Publikováno v:
AM J HUM GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba1707a022519a64f5aad1953051153
https://lirias.kuleuven.be/handle/20.500.12942/704570
https://lirias.kuleuven.be/handle/20.500.12942/704570
Autor:
Cariboni, Alyssa J. J. Paganoni, Federica Amoruso, Javier Porta Pelayo, Beatriz Calleja-Pérez, Valeria Vezzoli, Paolo Duminuco, Alessia Caramello, Roberto Oleari, Alberto Fernández-Jaén, Anna
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 10; Pages: 5632
Intellectual disability (ID) is a neurological disorder arising from early neurodevelopmental defects. The underlying genetic and molecular mechanisms are complex, but are thought to involve, among others, alterations in genes implicated in axon guid
Autor:
Daniel Martín Fernández-Mayoralas, Alberto Fernández-Jaén, Beatriz Calleja-Pérez, Marie-Anne Goyette, Sara Álvarez, Ana Laura Fernández-Perrone, Mónica Martínez-García, Jean-François Côté, Ana Jiménez de Domingo, Viviane Tran, Pilar Tirado
Publikováno v:
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Universidad Europea (UEM)
The engulfment and cell motility 3 (ELMO3) protein belongs to the ELMO-family of proteins. ELMO proteins form a tight complex with the DOCK1-5 guanine nucleotide exchange factors that regulate RAC1 spatiotemporal activation and signalling. DOCK prote