The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns
Published in Human mutation (01.04.2015)
Published in Human mutation (01.04.2015)
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The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
Gainotti, Sabina, Torreri, Paola, Wang, Chiuhui Mary, Reihs, Robert, Mueller, Heimo, Heslop, Emma, Roos, Marco, Badowska, Dorota Mazena, de Paulis, Federico, Kodra, Yllka, Carta, Claudio, Martìn, Estrella Lopez, Miller, Vanessa Rangel, Filocamo, Mirella, Mora, Marina, Thompson, Mark, Rubinstein, Yaffa, Posada de la Paz, Manuel, Monaco, Lucia, Lochmüller, Hanns, Taruscio, Domenica
Published in European journal of human genetics : EJHG (01.05.2018)
Published in European journal of human genetics : EJHG (01.05.2018)
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RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
Thompson, Rachel, Johnston, Louise, Taruscio, Domenica, Monaco, Lucia, Béroud, Christophe, Gut, Ivo G., Hansson, Mats G., ’t Hoen, Peter-Bram A., Patrinos, George P., Dawkins, Hugh, Ensini, Monica, Zatloukal, Kurt, Koubi, David, Heslop, Emma, Paschall, Justin E., Posada, Manuel, Robinson, Peter N., Bushby, Kate, Lochmüller, Hanns
Published in Journal of general internal medicine : JGIM (01.08.2014)
Published in Journal of general internal medicine : JGIM (01.08.2014)
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Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
Lopez-de la Rosa, Alberto, Telleria, Juan J, Posada de la Paz, Manuel, Hermosilla-Gimeno, Isabel M, Rivas, Miren Agurtzane, Gilabert, Raúl, Coco-Martín, Rosa M
Published in Orphanet journal of rare diseases (13.06.2024)
Published in Orphanet journal of rare diseases (13.06.2024)
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Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain
Sánchez-Díaz, Germán, Escobar, Francisco, Badland, Hannah, Arias-Merino, Greta, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Published in International journal of environmental research and public health (11.11.2018)
Published in International journal of environmental research and public health (11.11.2018)
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Screening for autism spectrum disorders: state of the art in Europe
García-Primo, Patricia, Hellendoorn, Annika, Charman, Tony, Roeyers, Herbert, Dereu, Mieke, Roge, Bernadette, Baduel, Sophie, Muratori, Filippo, Narzisi, Antonio, Van Daalen, Emma, Moilanen, Irma, de la Paz, Manuel Posada, Canal-Bedia, Ricardo
Published in European child & adolescent psychiatry (01.11.2014)
Published in European child & adolescent psychiatry (01.11.2014)
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Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire
Villar Hernández, Alvaro, Molero Alonso, Fernando, Aguado Marín, Álvaro, Posada de la Paz, Manuel
Published in International journal of environmental research and public health (09.06.2022)
Published in International journal of environmental research and public health (09.06.2022)
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The risk of re-identification versus the need to identify individuals in rare disease research
Hansson, Mats G, Lochmüller, Hanns, Riess, Olaf, Schaefer, Franz, Orth, Michael, Rubinstein, Yaffa, Molster, Caron, Dawkins, Hugh, Taruscio, Domenica, Posada, Manuel, Woods, Simon
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Koeks, Zaïda, Bladen, Catherine L., Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I., Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J., Lochmüller, Hanns
Published in Journal of neuromuscular diseases (21.11.2017)
Published in Journal of neuromuscular diseases (21.11.2017)
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Autism spectrum disorder prevalence in Italy: a nationwide study promoted by the Ministry of Health
Scattoni, Maria Luisa, Fatta, Laura Maria, Micai, Martina, Sali, Maria Enrica, Bellomo, Marina, Salvitti, Tommaso, Fulceri, Francesca, Castellano, Angela, Molteni, Massimo, Gambino, Giovanna, Posada, Manuel, Romano, Giovanna, Puopolo, Maria
Published in Child and adolescent psychiatry and mental health (28.10.2023)
Published in Child and adolescent psychiatry and mental health (28.10.2023)
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Early association of low-grade albuminuria and allograft dysfunction predicts renal transplant outcomes
Hernández, Domingo, Pérez, Germán, Marrero, Domingo, Porrini, Esteban, Rufino, Margarita, González-Posada, José Manuel, Delgado, Patricia, Torres, Armando
Published in Transplantation (15.02.2012)
Published in Transplantation (15.02.2012)
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Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease
Gómez-Mariano, Gema, Matamala, Nerea, Martínez, Selene, Justo, Iago, Marcacuzco, Alberto, Jimenez, Carlos, Monzón, Sara, Cuesta, Isabel, Garfia, Cristina, Martínez, María Teresa, Huch, Meritxell, Pérez de Castro, Ignacio, Posada, Manuel, Janciauskiene, Sabina, Martínez-Delgado, Beatriz
Published in Hepatology international (01.01.2020)
Published in Hepatology international (01.01.2020)
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The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
Bladen, Catherine L., Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angélica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Barišić, Nina, Kos, Tea, Brabec, Petr, Rahbek, Jes, Lahdetie, Jaana, Tuffery-Giraud, Sylvie, Claustres, Mireille, Leturcq, France, Ben Yaou, Rabah, Walter, Maggie C., Schreiber, Olivia, Karcagi, Veronika, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, de la caridad Guerrero Sarmiento, Isis, Ambrosini, Anna, Ceradini, Francesca, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Oliveira, Jorge, Santos, Rosário, Neagu, Elena, Butoianu, Niculina, Artemieva, Svetlana, Rasic, Vedrana Milic, Posada, Manuel, Palau, Francesc, Lindvall, Björn, Bloetzer, Clemens, Karaduman, Ayşe, Topaloğlu, Haluk, Inal, Serap, Oflazer, Piraye, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly, Flanigan, Kevin M., Salgado, David, von Rekowski, Brigitta, Lynn, Stephen, Heslop, Emma, Gainotti, Sabina, Taruscio, Domenica, Kirschner, Jan, Verschuuren, Jan, Bushby, Kate, Béroud, Christophe, Lochmüller, Hanns
Published in Human mutation (01.11.2013)
Published in Human mutation (01.11.2013)
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Type 1 Diabetes Increases the Expression of Proinflammatory Cytokines and Adhesion Molecules in the Artery Wall of Candidate Patients for Kidney Transplantation
Triñanes, Javier, Salido, Eduardo, Fernández, Julián, Rufino, Margarita, González-Posada, José Manuel, Torres, Armando, Hernández, Domingo
Published in Diabetes care (01.02.2012)
Published in Diabetes care (01.02.2012)
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Mortality Due to Cystic Fibrosis over a 36-Year Period in Spain: Time Trends and Geographic Variations
Villaverde-Hueso, Ana, Sánchez-Díaz, Germán, Molina-Cabrero, Francisco J, Gallego, Elisa, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Published in International journal of environmental research and public health (04.01.2019)
Published in International journal of environmental research and public health (04.01.2019)
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