Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Lluís Armengol"'
Autor:
Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). Methods The proband is a 36‐year‐old
Externí odkaz:
https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2
Autor:
María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Intellectual disability (ID) has a prevalence of 1–3% and aproximately 30–50% of ID cases have a genetic cause. Development of next-generation sequencing has shown a high diagnostic potential. The aim of this work was to evaluate the dia
Externí odkaz:
https://doaj.org/article/e6e8ba58378b4a60bbb269d823070007
Autor:
Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi
Externí odkaz:
https://doaj.org/article/47a113198d5649e88315ddec99f2067f
Autor:
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 18, p 13699 (2023)
The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in PPP2R1A have been associated with syndromic intellectual disability and a consistent, but still expanding, phenotype. The PPP2R1A gene encodes a
Externí odkaz:
https://doaj.org/article/1b68797967244e898233e77e9a3e3098
Autor:
María I. Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs, Juan R. González, Lluís Armengol, Ricardo P. Casaroli-Marano
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments o
Externí odkaz:
https://doaj.org/article/003dc5dc60104e7fa3fe16b886eea31a
Autor:
María I. Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs, Juan R. González, Lluís Armengol, Ricardo P. Casaroli‑Marano
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/b8c420de0a704146a03977528df10e64
Autor:
Xavier Estivill, Lluís Armengol
Publikováno v:
PLoS Genetics, Vol 3, Iss 10, Pp 1787-1799 (2007)
Genome-wide association scans (GWASs) using single nucleotide polymorphisms (SNPs) have been completed successfully for several common disorders and have detected over 30 new associations. Considering the large sample sizes and genome-wide SNP covera
Externí odkaz:
https://doaj.org/article/a5885aba990c4599a28043d207dded70
Autor:
Julio Delgado, Itziar Salaverria, Tycho Baumann, Alejandra Martínez-Trillos, Eriong Lee, Laura Jiménez, Alba Navarro, Cristina Royo, Rodrigo Santacruz, Cristina López, Angel R. Payer, Enrique Colado, Marcos González, Lluís Armengol, Dolors Colomer, Magda Pinyol, Neus Villamor, Marta Aymerich, Ana Carrió, Dolors Costa, Guillem Clot, Eva Giné, Armando López-Guillermo, Elías Campo, Sílvia Beà
Publikováno v:
Haematologica, Vol 99, Iss 11 (2014)
Externí odkaz:
https://doaj.org/article/034115b394c64af29bfde96f16e23115
Autor:
Laia Ramos, Javier del Rey, Gemma Daina, Manel García-Aragonés, Lluís Armengol, Alba Fernandez-Encinas, Mònica Parriego, Montserrat Boada, Olga Martinez-Passarell, Maria Rosa Martorell, Oriol Casagran, Jordi Benet, Joaquima Navarro
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e113223 (2014)
Comprehensive chromosome analysis techniques such as metaphase-Comparative Genomic Hybridisation (CGH) and array-CGH are available for single-cell analysis. However, while metaphase-CGH and BAC array-CGH have been widely used for Preimplantation Gene
Externí odkaz:
https://doaj.org/article/5500e1d839744c709ba416636e298a63
Autor:
Nina Bosch, Marta Morell, Immaculada Ponsa, Josep Maria Mercader, Lluís Armengol, Xavier Estivill
Publikováno v:
PLoS ONE, Vol 5, Iss 6 (2010)
Externí odkaz:
https://doaj.org/article/1eebd7022e2540bdb1d7470086d126b5