NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
Mavillard, Fabiola, Madruga‐Garrido, Marcos, Rivas, Eloy, Servián‐Morilla, Emilia, Ávila‐Polo, Rainiero, Marcos, Irene, Morón, Francisco J., Paradas, Carmen, Cabrera‐Serrano, Macarena
Published in Annals of clinical and translational neurology (01.11.2019)
Published in Annals of clinical and translational neurology (01.11.2019)
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Journal Article
Variably protease‐sensitive prionopathy presenting within ALS/FTD spectrum
Vicente‐Pascual, Mikel, Rossi, Marcello, Gámez, Josep, Lladó, Albert, Valls, Josep, Grau‐Rivera, Oriol, Ávila Polo, Rainiero, Llorens, Franc, Zerr, Inga, Ferrer, Isidre, Nos, Carlos, Parchi, Piero, Sánchez‐Valle, Raquel, Gelpí, Ellen
Published in Annals of clinical and translational neurology (01.10.2018)
Published in Annals of clinical and translational neurology (01.10.2018)
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Journal Article
Bone marrow erythrocyte and neutrophil phagocytosis and cannibalism by neuroendocrine carcinoma
González‐Molina, Werner, Ávila‐Polo, Rainiero, Morales‐Camacho, Rosario M., Vargas, Maria T., Bernal, Ricardo, Prats‐Martín, Concepción
Published in British journal of haematology (01.11.2018)
Published in British journal of haematology (01.11.2018)
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Journal Article
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Ávila-Polo, Rainiero, Malfatti, Edoardo, Lornage, Xavière, Cheraud, Chrystel, Nelson, Isabelle, Nectoux, Juliette, Böhm, Johann, Schneider, Raphaël, Hedberg-Oldfors, Carola, Eymard, Bruno, Monges, Soledad, Lubieniecki, Fabiana, Brochier, Guy, Thao Bui, Mai, Madelaine, Angeline, Labasse, Clémence, Beuvin, Maud, Lacène, Emmanuelle, Boland, Anne, Deleuze, Jean-François, Thompson, Julie, Richard, Isabelle, Taratuto, Ana Lía, Udd, Bjarne, Leturcq, France, Bonne, Gisèle, Oldfors, Anders, Laporte, Jocelyn, Romero, Norma Beatriz
Published in Journal of neuropathology and experimental neurology (01.12.2018)
Published in Journal of neuropathology and experimental neurology (01.12.2018)
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Journal Article
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
Block, Jana, Rashkova, Christina, Castanon, Irinka, Zoghi, Samaneh, Platon, Jessica, Ardy, Rico C., Fujiwara, Mitsuhiro, Chaves, Beatriz, Schoppmeyer, Rouven, van der Made, Caspar I., Jimenez Heredia, Raul, Harms, Frederike L., Alavi, Samin, Alsina, Laia, Sanchez Moreno, Paula, Ávila Polo, Rainiero, Cabrera-Pérez, Rocío, Kostel Bal, Sevgi, Pfajfer, Laurène, Ransmayr, Bernhard, Mautner, Anna-Katharina, Kondo, Ryohei, Tinnacher, Anna, Caldera, Michael, Schuster, Michael, Domínguez Conde, Cecilia, Platzer, René, Salzer, Elisabeth, Boyer, Thomas, Brunner, Han G., Nooitgedagt-Frons, Judith E., Iglesias, Estíbaliz, Deyà-Martinez, Angela, Camacho-Lovillo, Marisol, Menche, Jörg, Bock, Christoph, Huppa, Johannes B., Pickl, Winfried F., Distel, Martin, Yoder, Jeffrey A., Traver, David, Engelhardt, Karin R., Linden, Tobias, Kager, Leo, Hannich, J. Thomas, Hoischen, Alexander, Hambleton, Sophie, Illsinger, Sabine, Da Costa, Lydie, Kutsche, Kerstin, Chavoshzadeh, Zahra, van Buul, Jaap D., Antón, Jordi, Calzada-Hernández, Joan, Neth, Olaf, Viaud, Julien, Nishikimi, Akihiko, Dupré, Loïc, Boztug, Kaan
Published in The New England journal of medicine (10.08.2023)
Published in The New England journal of medicine (10.08.2023)
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Journal Article
Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation
Ramos-Campoy, Oscar, Ávila-Polo, Rainiero, Grau-Rivera, Oriol, Antonell, Anna, Clarimón, Jordi, Rojas-García, Ricardo, Charif, Sara, Santiago-Valera, Veronica, Hernandez, Isabel, Aguilar, Miquel, Almenar, Consuelo, Lopez-Villegas, Dolores, Bajo, Lorena, Pastor, Pau, Van der Zee, Julie, Lladó, Albert, Sanchez-Valle, Raquel, Gelpi, Ellen
Published in Journal of neuropathology and experimental neurology (01.08.2018)
Published in Journal of neuropathology and experimental neurology (01.08.2018)
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Journal Article
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Yubero, Delia, Montero, Raquel, Martín, Miguel A, Montoya, Julio, Ribes, Antonia, Grazina, Manuela, Trevisson, Eva, Rodriguez-Aguilera, Juan Carlos, Hargreaves, Iain P, Salviati, Leonardo, Navas, Plácido, Artuch, Rafael, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Nascimento, Andres, Pérez-Dueñas, Belén, Ortez, Carlos, Ramos, Federico, Colomer, Jaume, O'Callaghan, Mar, Pineda, Mercè, García-Cazorla, Angels, Espinós, Carmina, Ruiz, Angels, Macaya, Alfons, Marcé-Grau, Anna, Garcia-Villoria, Judit, Arias, Angela, Emperador, Sonia, Ruiz-Pesini, Eduardo, Lopez-Gallardo, Ester, Neergheen, Viruna, Simões, Marta, Diogo, Luisa, Blázquez, Alberto, González-Quintana, Adrián, Delmiro, Aitor, Domínguez-González, Cristina, Arenas, Joaquín, García-Silva, M Teresa, Martín, Elena, Quijada, Pilar, Hernández-Laín, Aurelio, Morán, María, Rivas Infante, Eloy, Ávila Polo, Rainiero, Paradas Lópe, Carmen, Bautista Lorite, Juan, Martínez Fernández, Eva M, Cortés, Ana B, Sánchez-Cuesta, Ana, Cascajo, Maria V, Alcázar, María, Brea-Calvo, Gloria
Published in Mitochondrion (01.09.2016)
Published in Mitochondrion (01.09.2016)
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Journal Article
Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
Vicente-Pascual, Mikel, Rossi, Marcello, Gámez, Josep, Lladó, Albert, Valls Solé, Josep, Grau-Rivera, Oriol, Ávila Polo, Rainiero, Llorens Torres, Franc, Zerr, Inga, Ferrer, Isidro (Ferrer Abizanda), Nos, Carlos, Parchi, Piero, Sánchez del Valle Díaz, Raquel, Gelpi, Ellen
Published in Annals of clinical and translational neurology (01.09.2018)
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Published in Annals of clinical and translational neurology (01.09.2018)
Journal Article
Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
Vicente-Pascual, Mikel, Rossi, Marcello, Gámez, Josep, Lladó, Albert, Valls Solé, Josep, Grau-Rivera, Oriol, Ávila Polo, Rainiero, Llorens Torres, Franc, Zerr, Inga, Ferrer, Isidro (Ferrer Abizanda), Nos, Carlos, Parchi, Piero, Sánchez del Valle Díaz, Raquel, Gelpi, Ellen
Published in Annals of clinical and translational neurology (01.09.2018)
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Published in Annals of clinical and translational neurology (01.09.2018)
Journal Article
Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation
Block, Jana, Rashkova, Christina, Castanon, Irinka, Platon, Jessica, Zoghi, Samaneh, Fujiwara, Mitsuhiro, Chaves, Beatriz, Schoppmeyer, Rouven, Van Der Made, Caspar, Cabrera-Perez, Rocio, Harms, Frederike Leonie, Ardy, Rico Chandra, Alavi, Samin, Alsina, Laia, Avila Polo, Rainiero, Sanchez Moreno, Paula, Jimenez Heredia, Raul, Hannich, Thomas, Huppa, Johannes, Distel, Martin, Pickl, Winfried, Yoder, Jeffrey, Traver, David, Engelhardt, Karin, Linden, Tobias, Kager, Leo, Hambleton, Sophie, Hoischen, Alexander, Illsinger, Sabine, Chavoshzadeh, Zahra, Kutsche, Kerstin, Da Costa, Lydie, Van Buul, Jaap, Calzada-Hernandez, Joan, Anton, Jordi, Neth, Olaf, Viaud, Julien, Nishikimi, Akihiko, Dupre, Loic, Boztug, Kaan
Published in Blood (28.11.2023)
Published in Blood (28.11.2023)
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Journal Article