A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset

Autor: Ana T. Marcos, Diego Amorós, Beatriz Muñoz-Cabello, Francisco Galán, Eloy Rivas Infante, Luis Alcaraz‐Mas, José M. Navarro‐Pando

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

Abstract Background αB‐crystallin is a promiscuous protein involved in numerous cell functions. Mutations in CRYAB have been found in patients with different pathological phenotypes that are not properly understood. Patients can present different

Externí odkaz: https://doaj.org/article/59e8a4d44c2443178dfce3ea3560b930

Lessons learned from a sporadic FUSopathy in a young man: a case report

Autor: Ernesto García-Roldán, Eloy Rivas-Infante, Manuel Medina-Rodríguez, José Enrique Arriola-Infante, Silvia Rodrigo-Herrero, Carmen Paradas, Alberto Rábano-Gutiérrez, Emilio Franco-Macías

Publikováno v: BMC Neurology. 23

Background In frontotemporal dementia (FTD) spectrum, younger patients may correspond to fusopathy cases, and cognitive decline could be rapidly progressive. We present a clinical and neuropathological description of a patient. Case presentation A 37

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e314d978631df00c683f643c7d32b012
https://doi.org/10.1186/s12883-023-03082-0

Neuropeptides in the developing human hippocampus under hypoxic-ischemic conditions

Autor: María del Mar Arroyo Jiménez, Maria José Lagartos Donate, Joaquín González Fuentes, Ricardo Insausti Serrano, Maria del Pilar Marcos Rabal, Eloy Rivas Infante, Sandra Cebada Sánchez

Publikováno v: Journal of Anatomy

The perinatal period, sensitive for newborn survival, is also one of the most critical moments in human brain development. Perinatal hypoxia due to reduced blood supply to the brain (ischemia) is one of the main causes of neonatal mortality. Brain da

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d77f63ec05c4b71b9f3b764c4a019c92
https://hdl.handle.net/10668/17826

Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice

Autor: José Manuel Caro-Vega, Beatriz López-Escobar, Antonio González-Meneses, Patricia Ybot-Gonzalez, Eloy Rivas-Infante, M. Ángel Carrión, Tatyana Rybkina, Mercedes Villar-Navarro, Rut Fernández-Torres, Ayleen Hernández-Viñas, Viviana Vargas-López, José Antonio Sánchez-Alcázar, Concepcion Álvarez del Vayo

Publikováno v: Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
Scientific Reports, Vol 10, Iss 1, Pp 1-14 (2020)
idUS. Depósito de Investigación de la Universidad de Sevilla

The use of first and second generation antiepileptic drugs during pregnancy doubles the risk of major congenital malformations and other teratogenic defects. Lacosamide (LCM) is a third-generation antiepileptic drug that interacts with collapsing res

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bcef04bf794f5e699817cb1521edb0b

Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Autor: Federico Ramos, Carmina Espinos, Joaquín Arenas, Aitor Delmiro, Angels Ruiz, Aurelio Hernández-Laín, Judit García-Villoria, Ester López-Gallardo, Mar O'Callaghan, Luísa Diogo, Eva M Martínez Fernández, Alfons Macaya, María Alcázar, Angels García-Cazorla, Carmen Paradas Lópe, Pilar Quijada, Iain P. Hargreaves, Rafael Artuch, Raquel Montero, Manuela Grazina, Cecilia Jimenez-Mallebrera, Marta Simões, Ana Sánchez-Cuesta, Miguel A. Martín, Elena Martín, Cristina Domínguez-González, Plácido Navas, Eva Trevisson, Rainiero Ávila Polo, María V. Cascajo, María Morán, Juan Bautista Lorite, Julio Montoya, Antonia Ribes, Gloria Brea-Calvo, M. Teresa García-Silva, Anna Marcé-Grau, Eloy Rivas Infante, Delia Yubero, Ana Cortés, Andrés Nascimento, Eduardo Ruiz-Pesini, Juan Carlos Rodríguez-Aguilera, Adrián González-Quintana, Mercè Pineda, Cristina Jou, Alberto Blázquez, Angela Arias, Viruna Neergheen, Carlos Ortez, Sonia Emperador, Belén Pérez-Dueñas, Leonardo Salviati, Jaume Colomer

Publikováno v: MITOCHONDRION
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Digital.CSIC. Repositorio Institucional del CSIC

CoQ deficiency study group: et al.
We evaluated the coenzyme Q₁₀ (CoQ) levels in patients who were diagnosed with mitochondrial oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders (n = 72). Data from the 72 cases in this study reveal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c49332536d94d5abcb10a521681f770
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1465