Zobrazeno 1 - 10
of 214
pro vyhledávání: '"Rafael Artuch"'
Autor:
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, Roser Urreizti
Publikováno v:
Journal of Medical Genetics. 60:406-415
BackgroundSchaaf-Yang syndrome (SYS) is caused by truncating mutations inMAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transpo
Autor:
Obdulia Sánchez‐Lijarcio, Delia Yubero, Fátima Leal, María L. Couce, Luis González Gutiérrez‐Solana, Eduardo López‐Laso, Àngels García‐Cazorla, Leticia Pías‐Peleteiro, Begoña de Azua Brea, Salvador Ibáñez‐Micó, Gonzalo Mateo‐Martínez, Monica Troncoso‐Schifferli, Scarlet Witting‐Enriquez, Magdalena Ugarte, Rafael Artuch, Belén Pérez
Publikováno v:
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
instname
Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood–brain barrier. This work desc
Autor:
Díadac Casas-Alba, Clara Oliva, María del Carmen Salgado, Anna Codina, Thais Agut, Alfredo García-Alix, Montserrat Garcia-Puig, Àngels García-Cazorla, Maurizio Taglialatela, Cristina Jou, Rafael Artuch, Carmen Fons
Publikováno v:
PEDIATRIC NEUROLOGY
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
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Background: There is a gap of knowledge regarding cerebrospinal fluid (CSF) ion concentrations in normal and pathological states, particularly during the neonatal period. We aim to compare CSF ion concentrations in newborns with different causes of n
Autor:
Natalia, Juliá-Palacios, Cristina, Molina-Anguita, María, Sigatulina Bondarenko, Elisenda, Cortès-Saladelafont, Javier, Aparicio, Daniel, Cuadras, Gabriella, Horvath, Carmen, Fons, Rafael, Artuch, Àngels, García-Cazorla, Alia, Ramírez-Camacho
Publikováno v:
Developmental Medicine & Child Neurology. 64:915-923
To study neurotransmitter status in children with early epileptic and developmental and epileptic encephalopathy (DEE) and to explore the clinical response to dopaminergic and serotoninergic therapies in a group of patients.Two hundred and five patie
Autor:
Matthew Martin, Katrin Beyer, Juan Luis Pérez-Navero, Eduardo López-Laso, Matias Mora, L. González Gutierrez-Solana, J. Martínez-Ruiz, J. Hernandez-Vara, M. Llorente, Á. García Cazorla, Juan-Luis Ramos, Rafael Artuch, María José de la Torre-Aguilar, J. Serrano Cárdenas, Pablo Mir, Beatriz Quintáns, M.J. Sobrido Gómez, A. Adarmes, J.J. Ochoa Sepúlveda, M.D. Teva, C. Castaño-de la Mota, J.C. Gómez-Esteban, Joaquín A. Fernández-Ramos, E. Moreno-Medinilla
Publikováno v:
Parkinsonism & Related Disorders. 94:67-78
Introduction In 2009, we described a possible founder effect of autosomal dominant Segawa disease in Cordoba (Spain) due to mutation c.265C>T (p. Q89*) in the GCH1 gene. We present a retrospective multicentre study aimed at improving our knowledge of
Autor:
Carmen Hernández-Ainsa, Ester López-Gallardo, María Concepción García-Jiménez, Francisco José Climent-Alcalá, Carmen Rodríguez-Vigil, Marta García Fernández de Villalta, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador
Publikováno v:
Disease Models & Mechanisms. 15
Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly characterised by refractory sideroblastic anaemia. Prognosis is poor and treatment
Autor:
Jaume Campistol, Oscar Sans, Daniel Cuadras, María-Julieta González, Rosa Gassió, Rafael Artuch, Cristina Sierra, Aida Ormazabal
Publikováno v:
European Journal of Paediatric Neurology. 23:685-691
Phenylketonuric (PKU) patients are a population at risk for sleep disorders due to deficits in neurotransmitter synthesis. We aimed to study the prevalence of sleep disorders in early-treated PKU children and adolescents and assessed correlations wit
Autor:
Antonio Calvo-López, Beatriz Rebollo-Calderon, Aida Ormazábal, Rafael Artuch, Javier Rosell-Ferrer, Julián Alonso-Chamarro, Mar Puyol
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Universitat Autònoma de Barcelona
Altres ajuts: acords transformatius de la UAB Some inborn errors of metabolism and other diseases can result in increasing blood ammonium (hyperammonemia episodes), which can cause serious neurological complications in patients or even death. Early d
Autor:
Georgia Sarquella-Brugada, Daniel Cuadras, Raquel Montero, Maria del Mar O’Callaghan, Loreto Martorell, Helena Colom, Rafael Artuch, Alejandra Darling, Cristina Latre, Abraham J Paredes-Fuentes, Sergi Cesar, Mercè Pineda, Jordi Genovés
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 143, Iss, Pp 112143-(2021)
Introduction and objectives Despite the growing interest and the potential benefits of idebenone as a repurposed drug for different orphan conditions, data regarding its monitoring are scarce. Our main goal was to report plasma idebenone values in a
Autor:
Laura Martí-Sánchez, Belén Pérez, Isidro Ferrer, Sara Picó, Daniel Macías-García, Juan José Garrido, Raúl Méndez, Héctor Anta, Ivó H. Hernández, María Santos-Galindo, Rafael Artuch, Nan Wang, Pilar Navarro, Enrique Fraga, Teresa Iglesias, Margarita Castro, Eulàlia Belloc, Félix Hernández, Alberto Parras, Ainara Elorza, Pablo Mir, X. William Yang, José Luis López-Sendón, Paula Garcia-Esparcia, José J. Lucas, Julia Pose-Utrilla
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Dipòsit Digital de la UB
Universidad de Barcelona
SCIENCE TRANSLATIONAL MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de la UB
Universidad de Barcelona
SCIENCE TRANSLATIONAL MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Huntington’s disease (HD) is a hereditary neurodegenerative disorder of the basal ganglia for which disease-modifying treatments are not yet available. Although gene-silencing therapies are currently being tested, further molecular mechanisms must
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700c39064ed471d955598fbebb4fd6b0
http://hdl.handle.net/10261/266629
http://hdl.handle.net/10261/266629