Search Results - la Fuente, Rubén Pérez-de

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  1. 1
    New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene

    New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expans... by Arteche‐López, Ana, Avila‐Fernandez, Almudena, Damian, Alejandra, Soengas‐Gonda, Emma, Fuente, Rubén Pérez, Gómez, Patricia Ramos, Merlo, Jesús Gallego, Burgos, Laura Horcajada, Fernández, Carlos Cemillán, Rosales, Jose Miguel Lezana, Martínez, Juan Francisco González, Quesada‐Espinosa, Juan Francisco, Corton, Marta, Guerrero‐Molina, Maria Paz

    Published in Clinical genetics
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  2. 2
    Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes

    Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes by Alcalá Torres, Juan, Pérez de la Fuente, Rubén, Cárdenas del Carre, Agustín, Arteche López, Ana, Posada Rodríguez, Ignacio Javier

    Published in Revista de neurologiá
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  3. 3
    Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

    Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test by Arteche-López, Ana, Gómez Rodríguez, Maria José, Sánchez Calvin, Maria Teresa, Quesada-Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, Palma Milla, Carmen, Gómez-Manjón, Irene, Hidalgo Mayoral, Irene, Pérez de la Fuente, Rubén, Díaz de Bustamante, Arancha, Darnaude, María Teresa, Gil-Fournier, Belén, Ramiro León, Soraya, Ramos Gómez, Patricia, Sierra Tomillo, Olalla, Juárez Rufián, Alexandra, Arranz Cano, Maria Isabel, Villares Alonso, Rebeca, Morales-Pérez, Pablo, Segura-Tudela, Alejandro, Camacho, Ana, Nuñez, Noemí, Simón, Rogelio, Moreno-García, Marta, Alvarez-Mora, Maria Isabel

    Published in Genes
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  4. 4
    Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B

    Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B by Bellido-Cuéllar, Sara, Pérez de la Fuente, Rubén, Lezana-Rosales, José Miguel, Sánchez-Calvín, Maria Teresa, Saiz-Díaz, Rosa Ana, González de la Aleja, Jesús

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  5. 5
    First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

    First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center by Quesada-Espinosa, Juan F., Garzón-Lorenzo, Lucía, Lezana-Rosales, José M., Gómez-Rodríguez, María J., Sánchez-Calvin, María T., Palma-Milla, Carmen, Gómez-Manjón, Irene, Hidalgo-Mayoral, Irene, Pérez de la Fuente, Rubén, Arteche-López, Ana, Álvarez-Mora, María I., Camacho-Salas, Ana, Cruz-Rojo, Jaime, Lázaro-Rodríguez, Irene, Morales-Conejo, Montserrat, Nuñez-Enamorado, Noemí, Bustamante-Aragones, Ana, Simón de las Heras, Rogelio, Gomez-Cano, María A., Ramos-Gómez, Patricia, Sierra-Tomillo, Ollalla, Juárez-Rufián, Alexandra, Gallego-Merlo, Jesús, Rausell-Sánchez, Laura, Moreno-García, Marta, Sánchez del Pozo, Jaime

    Published in Neurogenetics
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  6. 6
    Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

    Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review by Gómez-Rodríguez, Maria Jose, Morales-Conejo, Montserrat, Arteche-López, Ana, Sánchez-Calvín, Maria Teresa, Quesada-Espinosa, Juan Francisco, Gómez-Manjón, Irene, Palma-Milla, Carmen, Lezana-Rosales, Jose Miguel, Pérez de la Fuente, Ruben, Martin-Ramos, Maria-Luisa, Fernández-Guijarro, Manuela, Moreno-García, Marta, Alvarez-Mora, Maria Isabel

    Published in Genes
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  7. 7
    Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling

    Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling by Hidalgo Mayoral, Irene, Martínez-Salio, Antonio, Llamas-Velasco, Sara, Gómez-Majón, Irene, Arteche-López, Ana, Quesada-Espinosa, Juan Francisco, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Pérez de la Fuente, Rubén, Juárez Rufián, Alexandra, Sierra Tomillo, Olalla, Sánchez Calvín, Maria Teresa, Gómez Rodríguez, Maria José, Ramos Gómez, Patricia, Villarejo-Galende, Alberto, Díaz-Guzmán, Jaime, Ortega-Casarrubios, Maria Ángeles, Calleja-Castaño, Patricia, Moreno-García, Marta

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  8. 8
    Exploring genotype–phenotype correlations in glutaric aciduria type 1

    Exploring genotype–phenotype correlations in glutaric aciduria type 1 by Schuurmans, Imke M. E., Dimitrov, Bianca, Schröter, Julian, Ribes, Antonia, Fuente, Rubén Pérez, Zamora, Berta, Karnebeek, Clara D. M., Kölker, Stefan, Garanto, Alejandro

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  9. 9
    Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes

    Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes by Alcalá-Torres, Juan, la Fuente, Rubén Pérez-de, Carre, Agustín Cárdenas-del, Arteche-López, Ana, Posada-Rodríguez, Ignacio J.

    Published in Revista de neurologiá
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  10. 10
    Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

    Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice by Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, Jr, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez Del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Tan, Tiong Yang

    Published in Science advances
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  11. 11
    Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients

    Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients by Alcalá-Torres, J, Pérez-de la Fuente, R, Cárdenas-Del Carre, A, Arteche-López, A, Posada-Rodríguez, I J

    Published in Revista de neurologiá
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  12. 12
    Fragile X Syndrome Caused by Maternal Somatic Mosaicism of IFMR1/I Gene: Case Report and Literature Review

    Fragile X Syndrome Caused by Maternal Somatic Mosaicism of IFMR1/I Gene: Case Report and Literature Review by Gómez-Rodríguez, Maria Jose, Morales-Conejo, Montserrat, Arteche-López, Ana, Sánchez-Calvín, Maria Teresa, Quesada-Espinosa, Juan Francisco, Gómez-Manjón, Irene, Palma-Milla, Carmen, Lezana-Rosales, Jose Miguel, Pérez de la Fuente, Ruben, Ma, Fernández-Guijarro, Manuela, Moreno-García, Marta, Alvarez-Mora, Maria Isabel

    Published in Genes
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