Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Edgard, Verdura"'
Autor:
Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/
Externí odkaz:
https://doaj.org/article/2dfa1e8234864677aabd2a18c1c7242e
Autor:
Nathalie Launay, Montserrat Ruiz, Laura Planas-Serra, Edgard Verdura, Agustí Rodríguez-Palmero, Agatha Schlüter, Leire Goicoechea, Cristina Guilera, Josefina Casas, Felix Campelo, Emmanuelle Jouanguy, Jean-Laurent Casanova, Odile Boespflug-Tanguy, Maria Vazquez Cancela, Luis González Gutiérrez-Solana, Carlos Casasnovas, Estela Area-Gomez, Aurora Pujol
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 14 (2023)
The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF). Here, we describe 3 individuals from 2 unrelate
Externí odkaz:
https://doaj.org/article/acc98cdd521c4feb9a2e50e1be116f80
Autor:
Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.
Externí odkaz:
https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7
Autor:
Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1574-1579 (2020)
Abstract Objective To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. Methods We applied whole‐exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure
Externí odkaz:
https://doaj.org/article/7d3c43e10fb04b28ae396953bb1e0314
Autor:
Edgard Verdura, Agatha Schlüter, Gorka Fernández‐Eulate, Raquel Ramos‐Martín, Miren Zulaica, Laura Planas‐Serra, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Adolfo López de Munain, Aurora Pujol
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 105-111 (2020)
Abstract Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) were performed using patient's DNA sample. RT‐PCR and cDNA Sanger
Externí odkaz:
https://doaj.org/article/b9c5e6d197e642d4bf726a387d0fb8b8
Autor:
Edgard Verdura, Laura Pérez-Cano, Rubén Sabido-Vera, Emre Guney, Jean-Marc Hyvelin, Lynn Durham, Baltazar Gomez-Mancilla
Publikováno v:
Frontiers in Psychiatry, Vol 12 (2021)
Fragile X syndrome (FXS) is the most frequent monogenic cause of autism or intellectual disability, and research on its pathogenetic mechanisms has provided important insights on this neurodevelopmental condition. Nevertheless, after 30 years of inte
Externí odkaz:
https://doaj.org/article/86f07103dfd4431e8f95ad79a2add118
Autor:
Alessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, Chiara Paganini, Catherine Vanhulle, Walid Haouari, Nerea Gorría-Redondo, Elena Aznal-Sainz, Nathalie Boddaert, Laura Planas-Serra, Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Arnaud Bruneel, Antonio Rossi, Céline Huber, Aurora Pujol, Valérie Cormier-Daire
Publikováno v:
Brain. 145:3711-3722
Sulphated proteoglycans are essential in skeletal and brain development. Recently, pathogenic variants in genes encoding proteins involved in the proteoglycan biosynthesis have been identified in a range of chondrodysplasia associated with intellectu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590ed2c292252c9e2bf89ddcd27ee5f5
https://doi.org/10.1093/brain/awac110
https://doi.org/10.1093/brain/awac110
Autor:
Edgard Verdura, Bruno Senger, Miquel Raspall-Chaure, Agatha Schlüter, Nathalie Launay, Montserrat Ruiz, Carlos Casasnovas, Agustí Rodriguez-Palmero, Alfons Macaya, Hubert Dominique Becker, Aurora Pujol
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2022, pp.jmedgenet-2022-108529. ⟨10.1136/jmg-2022-108529⟩
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Scientia
Journal of Medical Genetics, BMJ Publishing Group, 2022, pp.jmedgenet-2022-108529. ⟨10.1136/jmg-2022-108529⟩
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Scientia
Genetic research; Nervous system diseases; Pediatrics Investigación genética; Enfermedades del sistema nervioso; Pediatría Recerca genètica; Malalties del sistema nerviós; Pediatria Background Aminoacyl-tRNA synthetases (ARS) are key enzymes cat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e157b3dabf7b32caad15107341db39a3
https://hal.archives-ouvertes.fr/hal-03798206/document
https://hal.archives-ouvertes.fr/hal-03798206/document
Autor:
Chaker Aloui, Hélène Morel, Florian Savenier, Kilan Le Guennec, Emilien Bernard, Julien Cogez, Waliyde Jabeur, Edgard Verdura, Jessica Lebenberg, Emmanuelle Génin, Geneviève Demarquay, Hugues Chabriat, Françoise Bergametti, Thomas Ludwig, Gaëlle Marenne, Dominique Hervé, Panagiotis Bachoumas, Elisabeth Tournier-Lasserve, Thibault Coste, Guillaume Mathey
Publikováno v:
Annals of neurologyReferences. 90(6)
OBJECTIVE The majority of patients with a familial cerebral small vessel disease (CSVD) referred for molecular screening do not show pathogenic variants in known genes. In this study, we aimed to identify novel CSVD causal genes. METHODS We performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7646b9c134bced92fcef918c7156fdef
https://pubmed.ncbi.nlm.nih.gov/34606115
https://pubmed.ncbi.nlm.nih.gov/34606115
Autor:
Jonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Manel Baena, Edgard Verdura, Andres Nascimento, Carlos Ortez, Montserrat Baiget, Pia Gallano
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0135189 (2015)
Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require precise genetic diagnosis because most therapeutic strategies are mutation-specific. To understand more about the genotype-phenotype correlations of the DMD gene we
Externí odkaz:
https://doaj.org/article/1b1eb347881b4fc1be05851da8e1216e