Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Marisa, Girós"'
Autor:
Sonia Pajares, Angela Arias, Judit García-Villoria, Judit Macías-Vidal, Emilio Ros, Javier de las Heras, Marisa Girós, Maria J. Coll, Antonia Ribes
Publikováno v:
Journal of Lipid Research, Vol 56, Iss 10, Pp 1926-1935 (2015)
Niemann-Pick type C (NPC) is a progressive neurodegenerative disease characterized by lysosomal/endosomal accumulation of unesterified cholesterol and glycolipids. Recent studies have shown that plasma cholestane-3β,5α,6β-triol (CT) and 7-ketochol
Externí odkaz:
https://doaj.org/article/593f29b624054999819c020f5701bb71
Autor:
Agatha, Schlüter, Agustí, Rodríguez-Palmero, Edgard, Verdura, Valentina, Vélez-Santamaría, Montserrat, Ruiz, Stéphane, Fourcade, Laura, Planas-Serra, Juan José, Martínez, Cristina, Guilera, Marisa, Girós, Rafael, Artuch, María Eugenia, Yoldi, Mar, O'Callaghan, Angels, García-Cazorla, Judith, Armstrong, Itxaso, Marti, Elisabet, Mondragón Rezola, Claire, Redin, Jean Louis, Mandel, David, Conejo, Concepción, Sierra-Córcoles, Sergi, Beltrán, Marta, Gut, Elida, Vázquez, Mireia, Del Toro, Mónica, Troncoso, Luis A, Pérez-Jurado, Luis G, Gutiérrez-Solana, Adolfo, López de Munain, Carlos, Casasnovas, Sergio, Aguilera-Albesa, Alfons, Macaya, Aurora, Pujol, Juan Francisco, V Azquez
Publikováno v:
Neurology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Background and ObjectivesGenetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a37b98336a0ef5fb99de2cc583fce53
https://pubmed.ncbi.nlm.nih.gov/35012964
https://pubmed.ncbi.nlm.nih.gov/35012964
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1841:336-344
Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata (CP) caused by mutations in one gene of the distal pathway of cholesterol biosynthesis. It exhibits intense phenotypic vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0acbfc28142c7d1cf5bad9c48d3bf053
https://doi.org/10.1016/j.bbalip.2013.09.002
https://doi.org/10.1016/j.bbalip.2013.09.002
Publikováno v:
Revista de Neurología. 28:40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fc1b175c23272447a025e2365b70ef7
https://doi.org/10.33588/rn.28s1.98382
https://doi.org/10.33588/rn.28s1.98382
Autor:
Muñoz-Pujol, Gerard1 (AUTHOR), Alforja-Castiella, Socorro2 (AUTHOR), Casaroli-Marano, Ricardo2 (AUTHOR), Morales-Romero, Blai1 (AUTHOR), García-Villoria, Judit1 (AUTHOR), Yépez, Vicente A.3,4 (AUTHOR), Gagneur, Julien3,4 (AUTHOR), Gusic, Mirjana3,5 (AUTHOR), Prokisch, Holger3,5 (AUTHOR), Tort, Frederic1 (AUTHOR) ftort@recerca.clinic.cat, Ribes, Antonia1 (AUTHOR) ftort@recerca.clinic.cat
Publikováno v:
International Journal of Molecular Sciences. Oct2022, Vol. 23 Issue 20, p12367-N.PAG. 13p.
Autor:
Serrano, Natalia Lourdes1,2,3, De Diego, Victor1,2, Cuadras, Daniel4, Monseny, Antonio F. Martinez5, Velázquez-Fragua, Ramón6, López, Laura7, Felipe, Ana8, Gutiérrez-Solana, Luis G.7, Macaya, Alfons8, Pérez-Dueñas, Belén1,2, Serrano, Mercedes1,2,5,9 mserrano@hsjdbcn.org, Martinez Monseny, Antonio F5 (AUTHOR), CDG Spanish-Consortium (CORPORATE AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 9/15/2017, Vol. 12, p1-6. 6p.
Autor:
Macías ‐ Vidal, Judit1,2,3, Girós, Marisa1,2,3, Guerrero, Martina4, Gascón, Pere3,5, Serratosa, Joan3,6, Bachs, Oriol3,4, Coll, Maria Josep1,2,3
Publikováno v:
FEBS Journal. Oct2014, Vol. 281 Issue 19, p4450-4466. 17p.
In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms
