Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Eva González‐Roca"'
Autor:
Teresa Ximelis, Alba Marín-Moreno, Juan Carlos Espinosa, Hasier Eraña, Jorge M. Charco, Isabel Hernández, Carmen Riveira, Daniel Alcolea, Eva González-Roca, Iban Aldecoa, Laura Molina-Porcel, Piero Parchi, Marcello Rossi, Joaquín Castilla, Raquel Ruiz-García, Ellen Gelpi, Juan María Torres, Raquel Sánchez-Valle
Publikováno v:
Alzheimer’s Research & Therapy, Vol 13, Iss 1, Pp 1-13 (2021)
Abstract Background More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date. Methods We describe the clinical and neuropatholo
Externí odkaz:
https://doaj.org/article/b9c9bc10cfc34c4daf0749b1769b7f52
Autor:
Roger Esmel-Vilomara, Susana Hernández, Ariadna Campos-Martorel, Eva González-Roca, Diego Yeste, Félix Castillo
Publikováno v:
JCRPE, Vol 12, Iss 1, Pp 104-108 (2020)
Hypophosphatasia, a rare genetic disease affecting bone metabolism, is characterized by decreased activity of tissue non-specific alkaline phosphatase (TNAP). The gene encoding TNAP (ALPL) has considerable allelic heterogeneity, which could explain d
Externí odkaz:
https://doaj.org/article/dd0db12434014dd594cc4f1ede565a11
Autor:
Guillem de Valles-Ibáñez, Ana Esteve-Solé, Mònica Piquer, E. Azucena González-Navarro, Jessica Hernandez-Rodriguez, Hafid Laayouni, Eva González-Roca, Ana María Plaza-Martin, Ángela Deyà-Martínez, Andrea Martín-Nalda, Mónica Martínez-Gallo, Marina García-Prat, Lucía del Pino-Molina, Ivón Cuscó, Marta Codina-Solà, Laura Batlle-Masó, Manuel Solís-Moruno, Tomàs Marquès-Bonet, Elena Bosch, Eduardo López-Granados, Juan Ignacio Aróstegui, Pere Soler-Palacín, Roger Colobran, Jordi Yagüe, Laia Alsina, Manel Juan, Ferran Casals
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological cr
Externí odkaz:
https://doaj.org/article/101b88bc2f1f4640aaf1b70c55b35578
Autor:
Anna Mensa‐Vilaró, Asunción Vicente, Marta Español‐Rego, Jordi Antón, Virginia Fabregat, Claudia Fortuny, Europa Azucena González, Victoria Fumadó, Eva González‐Roca, Cristina Jou, Susana Plaza, Juan Manuel Mosquera, Jordi Yagüe, Carolina Prat, Mariona Pascal, Manel Juan, Juan I. Arostegui, Eulalia Baselga, Laia Alsina
Publikováno v:
Pediatric Allergy and Immunology. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb73c940e7f647f6c0f7578b30a2dae
https://doi.org/10.1111/pai.13860
https://doi.org/10.1111/pai.13860
Publikováno v:
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USAReferences.
Nearly 10% of subjects with severe idiopathic osteoporosis present pathogenic WNT1 mutations. Clinical characteristics include a family history of osteoporosis, early adulthood onset, and fragility fractures which may evolve to pseudoarthrosis. WNT1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af3c70f3860be802b878b7f48055d15c
https://pubmed.ncbi.nlm.nih.gov/36396825
https://pubmed.ncbi.nlm.nih.gov/36396825
Autor:
Susana Hernández, Ariadna Campos-Martorell, Roger Esmel-Vilomara, Diego Yeste, Eva González-Roca, Félix Castillo
Publikováno v:
JCRPE, Vol 12, Iss 1, Pp 104-108 (2020)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
Hypophosphatasia, a rare genetic disease affecting bone metabolism, is characterized by decreased activity of tissue non-specific alkaline phosphatase (TNAP). The gene encoding TNAP (ALPL) has considerable allelic heterogeneity, which could explain d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c0ab6e89cdb1519c21a954a3d367254
https://doaj.org/article/dd0db12434014dd594cc4f1ede565a11
https://doaj.org/article/dd0db12434014dd594cc4f1ede565a11
Autor:
Teresa Ximelis, Iban Aldecoa, Joaquín Castilla, Ellen Gelpi, Piero Parchi, Carmen Riveira, Juan María Torres, Isabel Hernández, Daniel Alcolea, Raquel Ruiz-García, Hasier Eraña, Eva González-Roca, Jorge M. Charco, Alba Marín-Moreno, Raquel Sánchez-Valle, Laura Molina-Porcel, Marcello Rossi, Juan Carlos Espinosa
Background: More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date. Methods: We describe the clinical and neuropathological d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eef308d7e01cd92d792c372a81df0346
https://doi.org/10.21203/rs.3.rs-483825/v1
https://doi.org/10.21203/rs.3.rs-483825/v1
Autor:
Claudia Fortuny, Joan Sanchez-de-Toledo, Silvia Ricart, Juan Manuel Mosquera, Jorge Carrillo, Andrea Vergara, Monica Girona-Alarcon, Daniel Cuadras, Cristian Launes, Laia Alsina, Mariona Fernández de Sevilla, Victoria Fumadó, Ana Esteve-Solé, Judith Sánchez-Manubens, Manel Juan, Jordi Anton, Rosa Maria Pino-Ramirez, Cristina Jou, Carmen Muñoz-Almagro, María Ríos-Barnés, Eva González-Roca, Iolanda Jordan, Antoni Noguera-Julian
Publikováno v:
J Clin Invest
Journal of Clinical Investigation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
JOURNAL OF CLINICAL INVESTIGATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Investigation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
JOURNAL OF CLINICAL INVESTIGATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Multisystem inflammatory syndrome associated with the SARS-CoV-2 pandemic has recently been described in children (MIS-C), partially overlapping with Kawasaki disease (KD). We hypothesized that (a) MIS-C and prepandemic KD cytokine profiles may be un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff6f5f3421d4d7671d38328f2bf3788e
https://europepmc.org/articles/PMC7954607/
https://europepmc.org/articles/PMC7954607/
Autor:
José Luis Villanueva-Cañas, Miguel Julián Martínez Yoldi, Joan Anton Puig-Butillé, Andrea Vergara Gómez, Aitor Gastaminza Unanue, Esther Titos, Eva González-Roca
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0252509 (2021)
PLoS ONE
PLoS ONE
The current global pandemic due to the SARS-CoV-2 has pushed the limits of global health systems across all aspects of clinical care, including laboratory diagnostics. Supply chain disruptions and rapidly-shifting markets have resulted in flash-scarc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25faf0f393a347e677aff2c14cc50ea9
https://doaj.org/article/3d0dccf588ec49d7a97a1765ea9870f5
https://doaj.org/article/3d0dccf588ec49d7a97a1765ea9870f5
Autor:
Andrea Vergara Gómez, Joan Antón Puig Butillé, Aitor Gastaminza Unanue, Esther Titos, Miguel Julián Martínez Yoldi, José Luis Villanueva-Cañas, Eva González-Roca
Current global pandemic due to the SARS-CoV-2 has struggled and pushed the limits of global health systems. Supply chain disruptions and scarce availability of commercial laboratory reagents have motivated worldwide actors to search for alternative w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1820bd5065f2d74be5ca427b6e88993
https://doi.org/10.1101/2020.06.11.140285
https://doi.org/10.1101/2020.06.11.140285