Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Soledad Alcántara"'
Autor:
Uliana Musokhranova, Cristina Grau, Cristina Vergara, Laura Rodríguez-Pascau, Clara Xiol, Alba A. Castells, Soledad Alcántara, Pilar Rodríguez-Pombo, Pilar Pizcueta, Marc Martinell, Angels García-Cazorla, Alfonso Oyarzábal
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-17 (2023)
Abstract Background Rett syndrome is a neuropediatric disease occurring due to mutations in MECP2 and characterized by a regression in the neuronal development following a normal postnatal growth, which results in the loss of acquired capabilities su
Externí odkaz:
https://doaj.org/article/34688ba859f34c5d88309d4927e40819
Autor:
Alba-Aina Castells, Rafel Balada, Alba Tristán-Noguero, Mar O’Callaghan, Elisenda Cortès-Saladelafont, Ainhoa Pascual-Alonso, Àngels Garcia-Cazorla, Judith Armstrong, Soledad Alcántara
Publikováno v:
Biomedicines, Vol 9, Iss 2, p 148 (2021)
Methyl-CpG-binding protein 2 (MeCP2) is an X-linked epigenetic modulator whose dosage is critical for neural development and function. Loss-of-function mutations in MECP2 cause Rett Syndrome (RTT, OMIM #312750) while duplications in the Xq28 locus co
Externí odkaz:
https://doaj.org/article/d4504320f91a47d4aab43f9726387fd1
Autor:
Javier Rodríguez-Fanjul, Cristina Durán Fernández-Feijóo, Míriam Lopez-Abad, Maria Goretti Lopez Ramos, Rafael Balada Caballé, Soledad Alcántara-Horillo, Marta Camprubí Camprubí
Publikováno v:
PLoS ONE, Vol 12, Iss 9, p e0184643 (2017)
Hypoxic-ischemic encephalopathy (HIE) is one of the most important causes of neonatal brain injury. Therapeutic hypothermia (TH) is the standard treatment for term newborns after perinatal hypoxic ischemic injury (HI). Despite this, TH does not provi
Externí odkaz:
https://doaj.org/article/460dbfd4edb1462d8d8c1b2aef83acdf
Autor:
Alba Tristán-Noguero, Rafel Balada, Elisenda Cortès-Saladelafont, Soledad Alcántara, Judith Armstrong, Mar O'Callaghan, Alba-Aina Castells, Angels García-Cazorla, Ainhoa Pascual-Alonso
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Biomedicines
Volume 9
Issue 2
Biomedicines, Vol 9, Iss 148, p 148 (2021)
Universidad de Barcelona
Biomedicines
Volume 9
Issue 2
Biomedicines, Vol 9, Iss 148, p 148 (2021)
Methyl-CpG-binding protein 2 (MeCP2) is an X-linked epigenetic modulator whose dosage is critical for neural development and function. Loss-of-function mutations in MECP2 cause Rett Syndrome (RTT, OMIM #312750) while duplications in the Xq28 locus co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6610c605058a01f0cbf9319225715be
http://hdl.handle.net/2445/175824
http://hdl.handle.net/2445/175824
Autor:
Ainhoa Pascual‐Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio, Mar O'Callaghan, Antonio F. Martínez‐Monseny, Alba Aina Castells, Clara Xiol, Vicenç Català, Nuria Brandi, Paola Pacheco, Carlota Ros, Miguel Campo, Encarna Guillén, Salva Ibañez, María J. Sánchez, Pablo Lapunzina, Julián Nevado, Fernando Santos, Elisabet Lloveras, Juan D. Ortigoza‐Escobar, María I. Tejada, Hiart Maortua, Francisco Martínez, Carmen Orellana, Mónica Roselló, María A. Mesas, María Obón, Alberto Plaja, Joaquín A. Fernández‐Ramos, Eduardo Tizzano, Rosario Marín, José L. Peña‐Segura, Soledad Alcántara, Judith Armstrong
Publikováno v:
Clinical Genetics. 97
Author response for 'Molecular characterisation of Spanish patients with MECP2 duplication syndrome'
Autor:
Eli Lloveras, Aina Alba Castells, José Luís Peña‐Segura, Maria Isabel Tejada, Soledad Alcántara, María Obón, Carmen Orellana, Hiart Maortua, María Aurora Mesas, Laura Blasco, Nuria Brandi, Silvia Vidal, Judith Armstrong, María José Puig Sánchez, Fernando Santos, Patricia Rubio, Julián Nevado, Esther Gean, Salva Ibañez, Vicenç Català, Joaquín A. Fernández-Ramos, Eduardo F. Tizzano, Mónica Roselló, Miguel Del Campo, Encarna Guillén, Francisco Martínez, Antonio Martinez-Monseny, Juan Darío Ortigoza-Escobar, Ainhoa Pascual-Alonso, Pablo Lapunzina, Mar O'Callaghan, Clara Xiol, Carlota Ros, Rosario Marín, Alberto Plaja, Paola Pacheco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9925a9d1e540b5f86df8879796853ee5
https://doi.org/10.1111/cge.13718/v3/response1
https://doi.org/10.1111/cge.13718/v3/response1
Autor:
Soledad Alcántara, Mar O'Callaghan, Alfonso Oyarzabal, Mercè Pineda, Angels García-Cazorla, Cristina Grau, Clara Xiol, Alba-Aina Castells, Xavier Altafaj, Judith Armstrong, Guerau Fernandez
Publikováno v:
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Dipòsit Digital de la UB
Universidad de Barcelona
International Journal of Molecular Sciences, Vol 21, Iss 2, p 518 (2020)
International Journal of Molecular Sciences
Volume 21
Issue 2
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Dipòsit Digital de la UB
Universidad de Barcelona
International Journal of Molecular Sciences, Vol 21, Iss 2, p 518 (2020)
International Journal of Molecular Sciences
Volume 21
Issue 2
Rett syndrome, a serious neurodevelopmental disorder, has been associated with an altered expression of different synaptic-related proteins and aberrant glutamatergic and &gamma
aminobutyric acid (GABA)ergic neurotransmission. Despite its severi
aminobutyric acid (GABA)ergic neurotransmission. Despite its severi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e6923f5c981bfafb66fe2e76ad17740
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17245
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17245
Autor:
Antonio Martinez-Monseny, Clara Xiol, María Aurora Mesas, Alberto Plaja, Carlota Ros, Judith Armstrong, Pablo Lapunzina, Soledad Alcántara, José Luís Peña‐Segura, Maria Sanchez, Vicenç Català, Mónica Roselló, Patricia Rubio, Alba-Aina Castells, Rosario Marín, Mar O'Callaghan, Eduardo F. Tizzano, Francisco Martínez, Carmen Orellana, Joaquín A. Fernández-Ramos, María Obón, Silvia Vidal, Salva Ibañez, Esther Gean, Encarna Guillén, Maria Isabel Tejada, Elisabet Lloveras, Paola Pacheco, Nuria Brandi, Laura Blasco, Fernando Santos, Ainhoa Pascual-Alonso, Miguel Del Campo, Juan Darío Ortigoza-Escobar, Hiart Maortua, Julián Nevado
Publikováno v:
CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c9703b07125f4ea2756a632ae65fce6
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17395
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17395
Publikováno v:
Pediatric Research. 89:2-3
Autor:
Alfonso, Oyarzabal, Clara, Xiol, Alba Aina, Castells, Cristina, Grau, Mar, O'Callaghan, Guerau, Fernández, Soledad, Alcántara, Mercè, Pineda, Judith, Armstrong, Xavier, Altafaj, Angels, García-Cazorla
Publikováno v:
International Journal of Molecular Sciences
Rett syndrome, a serious neurodevelopmental disorder, has been associated with an altered expression of different synaptic-related proteins and aberrant glutamatergic and γ-aminobutyric acid (GABA)ergic neurotransmission. Despite its severity, it la