Browsing by Author Verdura, Edgard
Showing results 1 to 11 of 11
| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Jan-2020 | A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases | Verdura, Edgard; Schlüter, Agatha; Fernández Eulate, Gorka; Ramos-Martín, Raquel; Zulaica, Miren; Planas Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; López de Munain, Adolfo; Pujol Onofre, Aurora |
| 15-Aug-2020 | A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy | Rodríguez Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Ruiz, Montserrat; Martínez, Juan José; Gourlaouen, Isabelle; Ka, Chandran; Lobato, Ricardo; Casasnovas Pons, Carlos; Gac, Gérald Le; Fourcade, Stéphane; Pujol Onofre, Aurora |
| 19-Apr-2019 | A novel mutation in the GFAP gene expands the phenotype of Alexander disease | Casasnovas Pons, Carlos; Verdura, Edgard; Vélez Santamaria, Valentina; Schlüter, Agatha; Pons Escoda, Albert; Homedes, Christian; Ruiz, Montserrat; Fourcade, Stéphane; Launay, Nathalie; Pujol Onofre, Aurora |
| 1-Oct-2021 | Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations | Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J.; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A.; Mcmillan, Hugh J.; Barzik, Melanie; Beaman, Glenda M.; Motha, Reeya; Ng, Kah Ying; O’sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Lawrence, Isabella R.; Jenkinson, Emma M.; Zambonin, Jessica L.; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W.; Zschocke, Johannes; Munro, Kevin J.; Battersby, Brendan J.; Friedman, Thomas B.; Taylor, Robert W.; O’keefe, Raymond T.; Newman, William G. |
| 20-Aug-2021 | Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy | Verdura, Edgard; Rodríguez Palmero, Agustí; Vélez Santamaría, Valentina; Planas Serra, Laura; Calle, Irene de la; Raspall Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O’leary, Melanie; O’heir, Emily; Barredo, Estibaliz; Chacón, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schlüter, Agatha; Rouvet, Isabelle; Sala Coromina, Júlia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marcé Grau, Anna; Souza, Precilla de; Adams, David; Casasnovas Pons, Carlos; Rehm, Heidi L.; Mefford, Heather C.; González Gutiérrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora |
| 7-Sep-2023 | ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization | Schlüter, Agatha; Vélez Santamaría, Valentina; Verdura, Edgard; Rodríguez Palmero, Agustí; Ruiz, Montserrat; Fourcade, Stéphane; Planas Serra, Laura; Launay, Nathalie; Guilera, Cristina; Martínez, Juan José; Homedes Pedret, Christian; Albertí Aguiló, M. Antonia; Zulaika, Miren; Martí, Itxaso; Troncoso, Mónica; Tomás Vila, Miguel; Bullich, Gemma; García Pérez, M. Asunción; Sobrido Gómez, María Jesús; López Laso, Eduardo; Fons, Carme; Toro, Mireia del; Macaya, Alfons; García Cazorla, Àngels; Ortiz Martínez, Antonio José; Ortez, Carlos Ignacio; Cáceres Marzal, Cristina; Martínez Salcedo, Eduardo; Mondragón, Elisabet; Barredo, Estíbaliz; Antón Airaldi, Ileana; Ruíz Martínez, Javier; Fernández Ramos, Joaquin A.; Vázquez, Juan Francisco; Díez Porras, Laura; Vázquez Cancela, María; O’Callaghan, Mar; Pablo Sánchez, Tamara; Nedkova, Velina; Maraña Pérez, Ana Isabel; Beltran, Sergi; Gutiérrez Solana, Luis G.; Pérez Jurado, Luis A.; Aguilera Albesa, Sergio; López de Munain, Adolfo; Casasnovas, Carlos; Pujol, Aurora; HSP/ATAXIA Workgroup |
| 2020 | Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia | Verdura, Edgard; Fons, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Castellano, Antonio; Pujol Onofre, Aurora |
| 10-Jan-2022 | Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization | Schlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group |
| 5-Oct-2020 | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome | García Cazorla, Àngels; Verdura, Edgard; Juliá Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; SHMT Working Group; Ruiz, Montserrat; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch Iriberri, Rafael; Cousin, Margot A.; Pujol Onofre, Aurora |
| 23-Oct-2012 | Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy | Juan Mateu, Jonàs; Rodríguez, Maria José; Nascimento, Andrés; Jiménez Mallebrera, Cecilia; González Quereda, Lidia; Rivas, Eloy; Paradas, Carmen; Madruga, Marcos; Sánchez Ayaso, Pedro; Jou, Cristina; González Mera, Laura; Munell Casadesús, Francina; Roig Quilis, Manuel; Rabasa, Maria; Hernández Lain, Aurelio; Díaz Manera, Jordi; Gallardo, Eduard; Pascual Calvet, Jordi; Verdura, Edgard; Colomer Oferil, Jaume; Baiget Bastús, Montserrat; Olivé i Plana, Montserrat; Gallano, Pia |
| 17-Jul-2023 | RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia | Launay, Nathalie; Ruiz, Montserrat; Planas Serra, Laura; Verdura, Edgard; Rodríguez Palmero, Agustí; Schlüter, Agatha; Goicoechea, Leire; Guilera, Cristina; Casas, Josefina; Campelo, Felix; Jouanguy, Emmanuelle; Casanova, Jean Laurent; Boespflug Tanguy, Odile; Vazquez Cancela, Maria; González Gutiérrez-Solana, Luis; Casasnovas, Carlos; Area Gomez, Estela; Pujol, Aurora |