Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide von García-Redondo, Alberto, Dols-Icardo, Oriol, Rojas-García, Ricard, Esteban-Pérez, Jesús, Cordero-Vázquez, Pilar, Muñoz-Blanco, José Luis, Catalina, Irene, González-Muñoz, Miguel, Varona, Luis, Sarasola, Esther, Povedano, Monica, Sevilla, Teresa, Guerrero, Antonio, Pardo, Julio, de Munain, Adolfo López, Márquez-Infante, Celedonio, de Rivera, Francisco Javier Rodríguez, Pastor, Pau, Jericó, Ivonne, de Arcaya, Amaya Álvarez, Mora, Jesús S., Clarimón, Jordi, Gonzalo-Martínez, Juan Francisco, Juárez-Rufián, Alexandra, Atencia, Gabriela, Jiménez-Bautista, Rosario, Morán, Yolanda, Mascías, Javier, Hernández-Barral, María, Kapetanovic, Solange, García-Barcina, María, Alcalá, Carmen, Vela, Álvaro, Ramírez-Ramos, Concepción, Galán, Lucía, Pérez-Tur, Jordi, Quintáns, Beatriz, Sobrido, M Jesús, Fernández-Torrón, Roberto, Poza, Juan José, Gorostidi, Ana, Paradas, Carmen, Villoslada, Pablo, Larrodé, Pilar, Capablo, José Luis, Pascual-Calvet, Jordi, Goñi, Miguel, Morgado, Yolanda, Guitart, Miriam, Moreno-Laguna, Sira, Rueda, Almudena, Martín-Estefanía, Carlos, Cemillán, Carlos, Blesa, Rafael, Lleó, Alberto

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Analysis of the C 9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide von García-Redondo, Alberto, Dols-Icardo, Oriol, Rojas-García, Ricard, Esteban-Pérez, Jesús, Cordero-Vázquez, Pilar, Muñoz-Blanco, José Luis, Catalina, Irene, González-Muñoz, Miguel, Varona, Luis, Sarasola, Esther, Povedano, Monica, Sevilla, Teresa, Guerrero, Antonio, Pardo, Julio, de Munain, Adolfo López, Márquez-Infante, Celedonio, de Rivera, Francisco Javier Rodríguez, Pastor, Pau, Jericó, Ivonne, de Arcaya, Amaya Álvarez, Mora, Jesús S., Clarimón, Jordi, Gonzalo-Martínez, Juan Francisco, Juárez-Rufián, Alexandra, Atencia, Gabriela, Jiménez-Bautista, Rosario, Morán, Yolanda, Mascías, Javier, Hernández-Barral, María, Kapetanovic, Solange, García-Barcina, María, Alcalá, Carmen, Vela, Álvaro, Ramírez-Ramos, Concepción, Galán, Lucía, Pérez-Tur, Jordi, Quintáns, Beatriz, Sobrido, M Jesús, Fernández-Torrón, Roberto, Poza, Juan José, Gorostidi, Ana, Paradas, Carmen, Villoslada, Pablo, Larrodé, Pilar, Capablo, José Luis, Pascual-Calvet, Jordi, Goñi, Miguel, Morgado, Yolanda, Guitart, Miriam, Moreno-Laguna, Sira, Rueda, Almudena, Martín-Estefanía, Carlos, Cemillán, Carlos, Blesa, Rafael, Lleó, Alberto

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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia von Van de Vondel, Liedewei, De Winter, Jonathan, Beijer, Danique, Coarelli, Giulia, Wayand, Melanie, Palvadeau, Robin, Pauly, Martje G., Klein, Katrin, Rautenberg, Maren, Guillot‐Noël, Léna, Deconinck, Tine, Vural, Atay, Ertan, Sibel, Dogu, Okan, Uysal, Hilmi, Brankovic, Vesna, Herzog, Rebecca, Brice, Alexis, Durr, Alexandra, Klebe, Stephan, Stock, Friedrich, Bischoff, Almut Turid, Rattay, Tim W., Sobrido, María‐Jesús, De Michele, Giovanna, De Jonghe, Peter, Klopstock, Thomas, Lohmann, Katja, Zanni, Ginevra, Santorelli, Filippo M., Timmerman, Vincent, Haack, Tobias B., Züchner, Stephan, Schüle, Rebecca, Stevanin, Giovanni, Synofzik, Matthis, Basak, A. Nazli, Baets, Jonathan

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Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis von Wang, Cheng, Li, Yulei, Shi, Lei, Ren, Jie, Patti, Monica, Wang, Tao, de Oliveira, João R M, Sobrido, María-Jesús, Quintáns, Beatriz, Baquero, Miguel, Cui, Xiaoniu, Zhang, Xiang-Yang, Wang, Lianqing, Xu, Haibo, Wang, Junhan, Yao, Jing, Dai, Xiaohua, Liu, Juan, Zhang, Lu, Ma, Hongying, Gao, Yong, Ma, Xixiang, Feng, Shenglei, Liu, Mugen, Wang, Qing K, Forster, Ian C, Zhang, Xue, Liu, Jing-Yu

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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration von Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J, Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B, Salamon, Noriko, Kim, Ronald C, Vinters, Harry V, Chen, Zugen, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Jen, Joanna C

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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia von Ozes, B., Karagoz, N., Schüle, R., Rebelo, A., Sobrido, M.‐J., Harmuth, F., Synofzik, M., Pascual, S.I.P., Colak, M., Ciftci‐Kavaklioglu, B., Kara, B., Ordóñez‐Ugalde, A., Quintáns, B., Gonzalez, M.A., Soysal, A., Zuchner, S., Battaloglu, E.

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Discovery of SARS-CoV-2 antiviral drugs through large-scale compound repurposing von Riva, Laura, Yuan, Shuofeng, Yin, Xin, Martin-Sancho, Laura, Matsunaga, Naoko, Pache, Lars, Burgstaller-Muehlbacher, Sebastian, De Jesus, Paul D., Teriete, Peter, Hull, Mitchell V., Chang, Max W., Chan, Jasper Fuk-Woo, Cao, Jianli, Poon, Vincent Kwok-Man, Herbert, Kristina M., Cheng, Kuoyuan, Nguyen, Tu-Trinh H., Rubanov, Andrey, Pu, Yuan, Nguyen, Courtney, Choi, Angela, Rathnasinghe, Raveen, Schotsaert, Michael, Miorin, Lisa, Dejosez, Marion, Zwaka, Thomas P., Sit, Ko-Yung, Martinez-Sobrido, Luis, Liu, Wen-Chun, White, Kris M., Chapman, Mackenzie E., Lendy, Emma K., Glynne, Richard J., Albrecht, Randy, Ruppin, Eytan, Mesecar, Andrew D., Johnson, Jeffrey R., Benner, Christopher, Sun, Ren, Schultz, Peter G., Su, Andrew I., García-Sastre, Adolfo, Chatterjee, Arnab K., Yuen, Kwok-Yung, Chanda, Sumit K.

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A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism von Blanco-Arias, Patricia, Einholm, Anja P., Mamsa, Hafsa, Concheiro, Carla, Gutiérrez-de-Terán, Hugo, Romero, Jesús, Toustrup-Jensen, Mads S., Carracedo, Ángel, Jen, Joanna C., Vilsen, Bente, Sobrido, María-Jesús

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The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles von Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, Lupski, James R.

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Automated semantic annotation of rare disease cases: a case study von Taboada, Maria, Rodríguez, Hadriana, Martínez, Diego, Pardo, María, Sobrido, María Jesús

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Restless legs syndrome in non-dialysis renal patients: is it really that common? von Calviño, Jesús, Cigarrán, Secundino, Lopez, Luis M, Martinez, Agustin, Sobrido, Maria-Jesús

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Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 von Bettencourt, Conceição, de Yébenes, Justo García, López-Sendón, José Luis, Shomroni, Orr, Zhang, Xingqian, Qian, Shu-Bing, Bakker, Ingrid M. C., Heetveld, Sasja, Ros, Raquel, Quintáns, Beatriz, Sobrido, María-Jesús, Bevova, Marianna R., Jain, Shushant, Bugiani, Marianna, Heutink, Peter, Rizzu, Patrizia

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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export von Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João R M, Sears, Renee L, Ramos, Eliana Marisa, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L, Goizet, Cyril, Jen, Joanna C, Kirdlarp, Suppachok, Lang, Anthony E, Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S, Simpson, Sheila A, Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K, Vanakker, Olivier, Wessels, Marja W, Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H, Battini, Jean-Luc, Coppola, Giovanni

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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization von 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, Del Toro, Mireia, Macaya, Alfons, García-Cazorla, Àngels, Ortiz-Martínez, Antonio José, Ignacio-Ortez, Carlos, Cáceres-Marzal, Cristina, Martínez-Salcedo, Eduardo, Mondragón, Elisabet, Barredo, Estíbaliz, Airaldi, Ileana Antón, Martínez, Javier Ruiz, Ramos, Joaquin A. Fernández, Vázquez, Juan Francisco, Díez-Porras, Laura, Vázquez-Cancela, María, O’Callaghan, Mar, Sánchez, Tamara Pablo, Nedkova, Velina, Pérez, Ana Isabel Maraña, Beltran, Sergi, Gutiérrez-Solana, Luis G., Pérez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo López, Casasnovas, Carlos, Pujol, Aurora

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Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36 von McEachin, Zachary T., Gendron, Tania F., Raj, Nisha, García-Murias, María, Banerjee, Anwesha, Purcell, Ryan H., Ward, Patricia J., Todd, Tiffany W., Merritt-Garza, Megan E., Jansen-West, Karen, Hales, Chadwick M., García-Sobrino, Tania, Quintáns, Beatriz, Holler, Christopher J., Taylor, Georgia, San Millán, Beatriz, Teijeira, Susana, Yamashita, Toru, Ohkubo, Ryuichi, Boulis, Nicholas M., Xu, Chongchong, Wen, Zhexing, Streichenberger, Nathalie, Fogel, Brent L., Kukar, Thomas, Abe, Koji, Dickson, Dennis W., Arias, Manuel, Glass, Jonathan D., Jiang, Jie, Tansey, Malú G., Sobrido, María-Jesús, Petrucelli, Leonard, Rossoll, Wilfried, Bassell, Gary J.

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Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B von Ramos‐Leví, Ana M., Díaz‐pÉrez, Ángel, Sobrido, María‐JesÚs, PiÑeiro‐Hermida, Sergio, Blanco‐Arias, Patricia, Cabezas‐Agrícola, JosÉ M., Pascual‐Pascual, Samuel I., AraÚjo‐Vilar, David

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A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy von Ortolano, Saida, Tarrío, Rosa, Blanco-Arias, Patricia, Teijeira, Susana, Rodríguez-Trelles, Francisco, García-Murias, María, Delague, Valerie, Lévy, Nicolas, Fernández, José M, Quintáns, Beatriz, Millán, Beatriz San, Carracedo, Ángel, Navarro, Carmen, Sobrido, María-Jesús

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Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project von Cotton, Richard G H, Al Aqeel, Aida I, Al-Mulla, Fahd, Carrera, Paola, Claustres, Mireille, Ekong, Rosemary, Hyland, Valentine J, Macrae, Finlay A, Marafie, Makia J, Paalman, Mark H, Patrinos, George P, Qi, Ming, Ramesar, Rajkumar S, Scott, Rodney J, Sijmons, Rolf H, Sobrido, María-Jesús, Vihinen, Mauno

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia von Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia von Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

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