Absence of COCH gene mutations in patients with superior semicircular canal dehiscence by Crovetto, Miguel A., Whyte, Jaime, Sarasola, Esther, Rodriguez, Jose A., García-Barcina, María J.

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Non-endocrine hyperaldosteronism. When hormones are supporting players by Paja-Fano, Miguel, Gutiérrez-Macías, Alfonso, García-Barcina, María J.

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A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis by Sarasola, Esther, Rodríguez, Jose A, Garrote, Elisa, Arístegui, Javier, García-Barcina, Maria J

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Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia by Alvarez, Victoria, Sánchez-Ferrero, Elena, Beetz, Christian, Díaz, Marta, Alonso, Belén, Corao, Ana I, Gámez, Josep, Esteban, Jesús, Gonzalo, Juan F, Pascual-Pascual, Samuel I, López de Munain, Adolfo, Moris, Germán, Ribacoba, Renne, Márquez, Celedonio, Rosell, Jordi, Marín, Rosario, García-Barcina, Maria J, Del Castillo, Emilia, Benito, Carmen, Coto, Eliecer

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Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2 by Mantuano, Elide, Romano, Silvia, Veneziano, Liana, Gellera, Cinzia, Castellotti, Barbara, Caimi, Sara, Testa, Daniela, Estienne, Margherita, Zorzi, Giovanna, Bugiani, Marianna, Rajabally, Yusuf A, Barcina, Maria J Garcìa, Servidei, Serena, Panico, Aurora, Frontali, Marina, Mariotti, Caterina

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Mutational spectrum of the SPG4 genes in Spanish patients with hereditary spastic paraplegia by Alvarez, Victoria, Sanchez-Ferrero, Elena, Beetz, Christian, Diaz, Marta, Alonso, Belen, Corao, Ana I, Gamez, Josep, Esteban, Jesus, Gonzalo, Juan F, Pascual-Pascual, Samuel I, de Munain, Adolfo Lopez, Moris, German, Ribacoba, Renne, Marquez, Celedonio, Rosell, Jordi, Marin, Rosario, Garcia-Barcina, Maria J, del Castillo, Emilia, Benito, Carmen, Coto, Eliecer

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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS by Rafehi, Haloom, Szmulewicz, David J., Bennett, Mark F., Sobreira, Nara L.M., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A., Barcina, María García, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R.D., Wilson, Michael A., Zee, David S., Valle, David, Amor, David J., Bahlo, Melanie, Lockhart, Paul J.

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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk... by Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vincent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, Oliveira, Carla

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

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Progression from idiopathic portal hypertension to incomplete septal cirrhosis with liver failure requiring liver transplantation by Bernard, Pierre-Henri, Bail, Brigitte Le, Cransac, Martine, Garcia Barcina, Maria, Carles, Jacques, Balabaud, Charles, Bioulas-Sage, Paulette

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