A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia von Seixas, Ana I., Loureiro, Joana R., Costa, Cristina, Ordóñez-Ugalde, Andrés, Marcelino, Hugo, Oliveira, Cláudia L., Loureiro, José L., Dhingra, Ashutosh, Brandão, Eva, Cruz, Vitor T., Timóteo, Angela, Quintáns, Beatriz, Rouleau, Guy A., Rizzu, Patrizia, Carracedo, Ángel, Bessa, José, Heutink, Peter, Sequeiros, Jorge, Sobrido, Maria J., Coutinho, Paula, Silveira, Isabel

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'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization von GARCIA-MURIAS, María, QUINTANS, Beatriz, DAPENA, Dolores, MOREIRA, Ramon, RODRIGUEZ-TRELLES, Francisco, SEQUEIROS, Jorge, CARRACEDO, Angel, SILVEIRA, Isabel, SOBRIDO, María J, ARIAS, Manuel, SEIXAS, Ana I, CACHEIRO, Pilar, TARRIO, Rosa, PARDO, Julio, MILLAN, María J, ARIAS-RIVAS, Susana, BLANCO-ARIAS, Patricia

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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect von Correa‐Vela, Marta, Lupo, Vincenzo, Montpeyó, Marta, Sancho, Paula, Marcé‐Grau, Anna, Hernández‐Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández‐Rodríguez, Sandra, Tello, Cristina, Ramírez‐Jiménez, Laura, Pérez, Belén, Sánchez‐Montáñez, Ángel, Macaya, Alfons, Sobrido, María J., Martinez‐Vicente, Marta, Pérez‐Dueñas, Belén, Espinós, Carmen

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Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis von Taboada, María, Martínez, Diego, Pilo, Belén, Jiménez-Escrig, Adriano, Robinson, Peter N, Sobrido, María J

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Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases von Varela, Miguel A, Curtis, Helen J, Douglas, Andrew G L, Hammond, Suzan M, O'Loughlin, Aisling J, Sobrido, Maria J, Scholefield, Janine, Wood, Matthew J A

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Prevalence of spinocerebellar ataxia 36 in a US population von Valera, Juliana M, Diaz, Tatyana, Petty, Lauren E, Quintáns, Beatriz, Yáñez, Zuleima, Boerwinkle, Eric, Muzny, Donna, Akhmedov, Dmitry, Berdeaux, Rebecca, Sobrido, Maria J, Gibbs, Richard, Lupski, James R, Geschwind, Daniel H, Perlman, Susan, Below, Jennifer E, Fogel, Brent L

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Brain calcifications and PCDH12 variants von Nicolas, Gaël, Sanchez-Contreras, Monica, Ramos, Eliana Marisa, Lemos, Roberta R, Ferreira, Joana, Moura, Denis, Sobrido, Maria J, Richard, Anne-Claire, Lopez, Alma Rosa, Legati, Andrea, Deleuze, Jean-François, Boland, Anne, Quenez, Olivier, Krystkowiak, Pierre, Favrole, Pascal, Geschwind, Daniel H, Aran, Adi, Segel, Reeval, Levy-Lahad, Ephrat, Dickson, Dennis W, Coppola, Giovanni, Rademakers, Rosa, de Oliveira, João R M

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Summarizing Phenotype Evolution Patterns from Report Cases von Taboada, María, Álvarez, Verónica, Martínez, Diego, Pilo, Belén, Robinson, Peter N., Sobrido, María J.

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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice von Keller, Annika, Westenberger, Ana, Sobrido, Maria J, García-Murias, Maria, Domingo, Aloysius, Sears, Renee L, Lemos, Roberta R, Ordoñez-Ugalde, Andres, Nicolas, Gael, da Cunha, José E Gomes, Rushing, Elisabeth J, Hugelshofer, Michael, Wurnig, Moritz C, Kaech, Andres, Reimann, Regina, Lohmann, Katja, Dobričić, Valerija, Carracedo, Angel, Petrović, Igor, Miyasaki, Janis M, Abakumova, Irina, Mäe, Maarja Andaloussi, Raschperger, Elisabeth, Zatz, Mayana, Zschiedrich, Katja, Klepper, Jörg, Spiteri, Elizabeth, Prieto, Jose M, Navas, Inmaculada, Preuss, Michael, Dering, Carmen, Janković, Milena, Paucar, Martin, Svenningsson, Per, Saliminejad, Kioomars, Khorshid, Hamid R K, Novaković, Ivana, Aguzzi, Adriano, Boss, Andreas, Le Ber, Isabelle, Defer, Gilles, Hannequin, Didier, Kostić, Vladimir S, Campion, Dominique, Geschwind, Daniel H, Coppola, Giovanni, Betsholtz, Christer, Klein, Christine, Oliveira, Joao R M

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Rare HRAS1 alleles are a risk factor for the development of brain tumors von Vega, Ana, Sobrido, María J., Ruiz‐Ponte, Clara, Barros, Francisco, Carracedo, Angel

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Molecular Genetics and Inherited Ataxias: Redefining Phenotypes and Pathogenesis von Sobrido, Maria J., Geschwind, Daniel H.

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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice von Keller, Annika, Westenberger, Ana, Sobrido, Maria J, García-Murias, Maria, Domingo, Aloysius, Sears, Renee L, Lemos, Roberta R, Ordoñez-Ugalde, Andres, Nicolas, Gael, da Cunha, José E Gomes, Rushing, Elisabeth J, Hugelshofer, Michael, Wurnig, Moritz C, Kaech, Andres, Reimann, Regina, Lohmann, Katja, Dobričić, Valerija, Carracedo, Angel, Petrović, Igor, Miyasaki, Janis M, Abakumova, Irina, Mäe, Maarja Andaloussi, Raschperger, Elisabeth, Zatz, Mayana, Zschiedrich, Katja, Klepper, Jörg, Spiteri, Elizabeth, Prieto, Jose M, Navas, Inmaculada, Preuss, Michael, Dering, Carmen, Janković, Milena, Paucar, Martin, Svenningsson, Per, Saliminejad, Kioomars, Khorshid, Hamid R K, Novaković, Ivana, Aguzzi, Adriano, Boss, Andreas, Le Ber, Isabelle, Defer, Gilles, Hannequin, Didier, Kostić, Vladimir S, Campion, Dominique, Geschwind, Daniel H, Coppola, Giovanni, Betsholtz, Christer, Klein, Christine, Oliveira, Joao R M

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SARAEasy: A Mobile App for Cerebellar Syndrome Quantification and Characterization von Maarouf, Haitham, López, Vanessa, Sobrido, Maria J., Martínez, Diego, Taboada, Maria

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Assessing microsatellite instability with semiautomated fluorescent technology: Application to the analysis of primary brain tumors von Sobrido, Maria J., Barros, Francisco, Lema, Manola, Rodriguez-Pereira, Carlos, Forteza, Jerónimo, Carracedo, Angel

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Role of tau in non-familial dementia von Wilhelmsen, Kirk C., Geschwind, Daniel, Clark, Lorraine N., Sobrido, Maria J., Heyn, Sietske N., Kloeckener, Barbara, Feiger, Jennie, Miller, Bruce L.

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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect von Correa-Vela, Marta, Lupo, Vincenzo, Montpeyó Garcia-Moreno, Marta, Sancho, Paula, Marcé-Grau, Anna, Hernández-Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández-Rodríguez, Sandra, Tello, Cristina, Ramírez-Jiménez, Laura, Pérez, Belén, Sánchez-Montáñez, Ángel, Macaya Ruiz, Alfons, Sobrido, María J, Martinez-Vicente, Marta, Pérez-Dueñas, Belén, Espinós, Carmen, Universitat Autònoma de Barcelona

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Free-standing supercapacitors from Kraft lignin nanofibers with remarkable volumetric energy density von Schlee, Philipp, Herou, Servann, Jervis, Rhodri, Shearing, Paul R, Brett, Dan J L, Baker, Darren, Hosseinaei, Omid, Tomani, Per, Murshed, M Mangir, Li, Yaomin, Mostazo-López, María José, Cazorla-Amorós, Diego, Jorge Sobrido, Ana Belen, Titirici, Maria-Magdalena

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Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo von Todd, Tiffany W., McEachin, Zachary T., Chew, Jeannie, Burch, Alexander R., Jansen-West, Karen, Tong, Jimei, Yue, Mei, Song, Yuping, Castanedes-Casey, Monica, Kurti, Aishe, Dunmore, Judith H., Fryer, John D., Zhang, Yong-Jie, San Millan, Beatriz, Teijeira Bautista, Susana, Arias, Manuel, Dickson, Dennis, Gendron, Tania F., Sobrido, María-Jesús, Disney, Matthew D., Bassell, Gary J., Rossoll, Wilfried, Petrucelli, Leonard

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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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Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study von Navas-Sánchez, Francisco J., Marcos-Vidal, Luis, de Blas, Daniel Martín, Fernández-Pena, Alberto, Alemán-Gómez, Yasser, Guzmán-de-Villoria, Juan A., Romero, Julia, Catalina, Irene, Lillo, Laura, Muñoz-Blanco, José L., Ordoñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Carmona, Susanna, Grandas, Francisco, Desco, Manuel

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