Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Mercè, Pineda"'
Autor:
Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo‐Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 3, Pp n/a-n/a (2023)
Abstract Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early‐onset Parkinsonism. Affected children present with either a severe form that does not respond to L‐Dopa treatment (THD‐B) or a
Externí odkaz:
https://doaj.org/article/e22ef144c32047569cfc1dd967018c9c
Autor:
Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo, Ramón Cancho-Candela
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalen
Externí odkaz:
https://doaj.org/article/72104a0d828544ed9e06b17ee583309d
Autor:
Abraham J. Paredes-Fuentes, Sergi Cesar, Raquel Montero, Cristina Latre, Jordi Genovès, Loreto Martorell, Daniel Cuadras, Helena Colom, Mercè Pineda, Maria del Mar O’Callaghan, Georgia Sarquella-Brugada, Alejandra Darling, Rafael Artuch
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
Externí odkaz:
https://doaj.org/article/15ecb880ce73489ea9a702ce038b780f
Autor:
Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/8843af3e508f46809b9ffcd7f84bf86f
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-21 (2018)
Abstract Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. Miglustat is indicated for the treatment of progressive neurolo
Externí odkaz:
https://doaj.org/article/1a17d8e122b4490c84c430f32854bf7a
Autor:
Silvia Vidal, Ainhoa Pascual‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Rett syndrome (RTT) is a developmental disorder with an early onset and X‐linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. T
Externí odkaz:
https://doaj.org/article/1c84a3c1e8154de99ac1fb8e067727f2
Autor:
Catia S. Pereira, Begoña Pérez-Cabezas, Helena Ribeiro, M. Luz Maia, M. Teresa Cardoso, Ana F. Dias, Olga Azevedo, M. Fatima Ferreira, Paula Garcia, Esmeralda Rodrigues, Paulo Castro-Chaves, Esmeralda Martins, Patricio Aguiar, Mercè Pineda, Yasmina Amraoui, Simona Fecarotta, Elisa Leão-Teles, Shenglou Deng, Paul B. Savage, M. Fatima Macedo
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases
Externí odkaz:
https://doaj.org/article/9d7d6cafc1fa40ae99d4db6b74bf5ce7
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
Autor:
Patrícia Janeiro, María Ángeles Ruiz, Antonio González-Meneses, Mercè Pineda, Luísa Diogo, Anabela Bandeira, Ramón Cancho-Candela
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is est
Autor:
Eulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, Eduardo López-Laso, Rebeca Losada del Pozo, Luis González Gutiérrez-Solana, David Conejo Moreno, Concha Sierra-Córcoles, Naiara Olabarrieta-Hoyos, Marcos Madruga-Garrido, Javier Aguirre-Rodríguez, Verónica González-Álvarez, Mar O’Callaghan, Jordi Muchart, Judith Armstrong-Moron
Publikováno v:
Journal of Central Nervous System Disease, Vol 2014, Iss 6, Pp 59-68 (2014)
Externí odkaz:
https://doaj.org/article/7d82afabc4a44215a8fb849d52ef7c8b