Zobrazeno 1 - 10 of 22 pro vyhledávání: '"Alba A. Castells"'
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Akademický článek
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome
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
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2
Akademický článek
Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
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, Vol 21, Iss 2, p 518 (2020)
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
Externí odkaz: https://doaj.org/article/1975f39cc2964f1286763ff4602bfbf8
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3
Impact of histological chorioamnionitis on postnatal growth in very-low birth weight infants
Autor: Montserrat Izquierdo Renau, Elsa García González, Isabel Iglesias Platas, Alba Vergès Castells, Victoria Aldecoa-Bilbao, Carlota Rovira Zurriaga
Publikováno v: The Journal of Maternal-Fetal & Neonatal Medicine. 34:1780-1785
Postnatal growth restriction remains one of the most common problems of very preterm infants (VPI). Chorioamnionitis is a frequent cause of prematurity. Both have been related to worse postnatal outcomes.To evaluate the influence of histological chor
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::674e483d25e355d281b21c5471a39155
https://doi.org/10.1080/14767058.2019.1648423
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4
Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy
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)
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
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6
Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
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
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e6923f5c981bfafb66fe2e76ad17740
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17245
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7
Molecular characterization of Spanish patients with MECP2 duplication syndrome
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
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
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8
Experiencia del paciente en Urgencias: ¿qué opinan los niños y los adolescentes?
Autor: Carles Luaces Cubells, Cristina Parra Cotanda, Núria Carreras Blesa, Alba Vergés Castells, Victoria Trenchs Sainz de la Maza
Publikováno v: ANALES DE PEDIATRIA
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Anales de Pediatría, Vol 86, Iss 2, Pp 61-66 (2017)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Resumen: Introducción: Mejorar la experiencia del paciente debe convertirse en una prioridad en los Servicios de Urgencias. En Pediatría, a menudo, se estudia la opinión de padres/cuidadores y no la de los niños directamente. El objetivo de este
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e9187d9737328a646799c799496859d
https://doi.org/10.1016/j.anpedi.2016.04.016
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9
Comprehensive Analysis of GABA
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4997cec64c432a2c932a98e12e579f22
https://pubmed.ncbi.nlm.nih.gov/31947619
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10
Enquiring beneath the surface: can a gene expression assay shed light into the heterogeneity among newborns with neonatal encephalopathy?
Autor: Gemma Arca, Alfredo García-Alix, Miguel Alsina, Cristian Tebé, Marisol León, Soledad Alcántara, Rafael Balada, Alba-Aina Castells
Publikováno v: Pediatric research. 88(3)
BACKGROUND We aimed to assess whether a gene expression assay provided insights for understanding the heterogeneity among newborns affected by neonatal encephalopathy (NE). METHODS Analysis by RT-qPCR of the mRNA expression of candidate genes in whol
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72182badd7074b141ceb7616e0878192
https://pubmed.ncbi.nlm.nih.gov/32746447
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