Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts
Porras, Gracia, Ruiz, Silvana, Maestro, Inés, Borrego-Hernández, Daniel, Redondo, Alberto G, Martínez, Ana, Martín-Requero, Ángeles
Published in International journal of molecular sciences (02.02.2023)
Published in International journal of molecular sciences (02.02.2023)
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Journal Article
Molecular Alterations in Sporadic and SOD1 -ALS Immortalized Lymphocytes: Towards a Personalized Therapy
Lastres-Becker, Isabel, Porras, Gracia, Arribas-Blázquez, Marina, Maestro, Inés, Borrego-Hernández, Daniel, Boya, Patricia, Cerdán, Sebastián, García-Redondo, Alberto, Martínez, Ana, Martin-Requero, Ángeles
Published in International journal of molecular sciences (16.03.2021)
Published in International journal of molecular sciences (16.03.2021)
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Journal Article
TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex
Rayner, Stephanie L., Yang, Shu, Farrawell, Natalie E., Jagaraj, Cyril J., Cheng, Flora, Davidson, Jennilee M., Luu, Luan, Redondo, Alberto G., Rábano, Alberto, Borrego-Hernández, Daniel, Atkin, Julie D., Morsch, Marco, Blair, Ian P., Yerbury, Justin J., Chung, Roger, Lee, Albert
Published in Neurobiology of disease (01.06.2022)
Published in Neurobiology of disease (01.06.2022)
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Journal Article
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population
Borrego-Hernández, Daniel, Vázquez-Costa, Juan Francisco, Domínguez-Rubio, Raúl, Expósito-Blázquez, Laura, Aller, Elena, Padró-Miquel, Ariadna, García-Casanova, Pilar, Colomina, María J, Martín-Arriscado, Cristina, Osta, Rosario, Cordero-Vázquez, Pilar, Esteban-Pérez, Jesús, Povedano-Panadés, Mónica, García-Redondo, Alberto
Published in Biomedicines (02.02.2024)
Published in Biomedicines (02.02.2024)
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Journal Article
CdSe Quantum Dots in Human Models Derived from ALS Patients: Characterization, Nuclear Penetration Studies and Multiplexing
Tosat-Bitrián, Carlota, Avis-Bodas, Alicia, Porras, Gracia, Borrego-Hernández, Daniel, García-Redondo, Alberto, Martín-Requero, Angeles, Palomo, Valle
Published in Nanomaterials (Basel, Switzerland) (09.03.2021)
Published in Nanomaterials (Basel, Switzerland) (09.03.2021)
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Journal Article
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation
Dols-Icardo, Oriol, García-Redondo, Alberto, Rojas-García, Ricardo, Borrego-Hernández, Daniel, Illán-Gala, Ignacio, Muñoz-Blanco, José Luís, Rábano, Alberto, Cervera-Carles, Laura, Juárez-Rufián, Alexandra, Spataro, Nino, De Luna, Noemí, Galán, Lucía, Cortes-Vicente, Elena, Fortea, Juan, Blesa, Rafael, Grau-Rivera, Oriol, Lleó, Alberto, Esteban-Pérez, Jesús, Gelpi, Ellen, Clarimón, Jordi
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2018)
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Journal Article
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation
Gómez-Tortosa, Estrella, Van der Zee, Julie, Ruggiero, María, Gijselinck, Ilse, Esteban-Pérez, Jesús, García-Redondo, Alberto, Borrego-Hernández, Daniel, Navarro, Eloísa, Sainz, M. José, Pérez-Pérez, Julián, Cruts, Marc, Van Broeckhoven, Christine, Guerrero-López, Rosa
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2017)
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Journal Article
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia
Llamas-Velasco, Sara, Arteche-López, Ana, Méndez-Guerrero, Antonio, Puertas Martín, Verónica, Quesada Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, González-Sánchez, Marta, Blanco-Palmero, Victor Antonio, Palma Milla, Carmen, Herrero-San Martín, Alejandro, Borrego-Hernández, Daniel, García-Redondo, Alberto, Pérez-Martínez, David Andrés, Villarejo-Galende, Alberto
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.10.2021)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.10.2021)
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Journal Article
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
Dou, John, Bakulski, Kelly, Guo, Kai, Hur, Junguk, Zhao, Lili, Saez-Atienzar, Sara, Stark, Ali, Chia, Ruth, García-Redondo, Alberto, Rojas-Garcia, Ricardo, Vázquez Costa, Juan Francisco, Santiago, Ruben Fernandez, Bandres-Ciga, Sara, Gómez-Garre, Pilar, Periñán, Maria Teresa, Mir, Pablo, Pérez-Tur, Jordi, Cardona, Fernando, Menendez-Gonzalez, Manuel, Riancho, Javier, Borrego-Hernández, Daniel, Galán-Dávila, Lucia, Ceberio, Jon Infante, Pastor, Pau, Paradas, Carmen, Dols-Icardo, Oriol, Traynor, Bryan J., Feldman, Eva L., Goutman, Stephen A.
Published in Neurology. Genetics (01.10.2023)
Published in Neurology. Genetics (01.10.2023)
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Journal Article
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
Dou, John, Bakulski, Kelly, Guo, Kai, Hur, Junguk, Zhao, Lili, Saez-Atienzar, Sara, Stark, Ali, Chia, Ruth, García-Redondo, Alberto, Rojas-Garcia, Ricardo, Vázquez Costa, Juan Francisco, Fernandez Santiago, Ruben, Bandres-Ciga, Sara, Gómez-Garre, Pilar, Periñán, Maria Teresa, Mir, Pablo, Pérez-Tur, Jordi, Cardona, Fernando, Menendez-Gonzalez, Manuel, Riancho, Javier, Borrego-Hernández, Daniel, Galán-Dávila, Lucia, Infante Ceberio, Jon, Pastor, Pau, Paradas, Carmen, Dols-Icardo, Oriol, Traynor, Bryan J, Feldman, Eva L, Goutman, Stephen A
Published in Neurology. Genetics (01.08.2023)
Published in Neurology. Genetics (01.08.2023)
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Journal Article
Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease
Vázquez‐Costa, Juan F., Borrego‐Hernández, Daniel, Paradas, Carmen, Gómez‐Caravaca, María Teresa, Rojas‐Garcia, Ricardo, Varona, Luis, Povedano, Mónica, García‐Sobrino, Tania, Jericó Pascual, Ivonne, Gutiérrez, Antonio, Riancho, Javier, Turon‐Sans, Janina, Assialioui, Abdelilah, Pérez‐Tur, Jordi, Sevilla, Teresa, Esteban Pérez, Jesús, García‐Redondo, Alberto, López, Alberto Andrés, Calabria, M. Dolores, Díaz‐Marín, Carmen, Caravaca, Eva Fages, Dávila, Lucía Galán, Martínez, Alberto García, Gimenez‐Muñoz, Álvaro, Sola, Antonio Guerrero, Cadavid, Javier Mascías, Mora Pardina, Jesús S., Blanco, José Luis Muñoz, Juntas‐Morales, Raúl, Morgado, Yolanda, Pardo, Julio, Valladares, Amador, Vilar‐Ventura, Rosa Maria
Published in European journal of neurology (01.04.2023)
Published in European journal of neurology (01.04.2023)
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Journal Article
Intermediate Repeat Expansion in the IATXN2/I Gene as a Risk Factor in the ALS and FTD Spanish Population
Borrego-Hernández, Daniel, Vázquez-Costa, Juan Francisco, Domínguez-Rubio, Raúl, Expósito-Blázquez, Laura, Aller, Elena, Padró-Miquel, Ariadna, García-Casanova, Pilar, Colomina, María J, Martín-Arriscado, Cristina, Osta, Rosario, Cordero-Vázquez, Pilar, Esteban-Pérez, Jesús, Povedano-Panadés, Mónica, García-Redondo, Alberto
Published in Biomedicines (01.02.2024)
Published in Biomedicines (01.02.2024)
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Journal Article
TDP-43 is a ubiquitylation substrate of the SCF cyclin F complex
Rayner, Stephanie L, Yang, Shu, Farrawell, Natalie E, Jagaraj, Cyril J, Cheng, Flora, Davidson, Jennilee M, Luu, Luan, Redondo, Alberto G, Rábano, Alberto, Borrego-Hernández, Daniel, Atkin, Julie D, Morsch, Marco, Blair, Ian P, Yerbury, Justin J, Chung, Roger, Lee, Albert
Published in Neurobiology of disease (01.06.2022)
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Published in Neurobiology of disease (01.06.2022)
Journal Article
Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
Dou, John, Bakulski, Kelly, Guo, Kai, Hur, Junguk, Zhao, Lili, Saez-Atienzar, Sara, Stark, Ali, Chia, Ruth, García-Redondo, Alberto, Rojas-Garcia, Ricardo, Vázquez Costa, Juan Francisco, Santiago, Ruben Fernandez, Bandres-Ciga, Sara, Gómez-Garre, Pilar, Periñán, Maria Teresa, Mir, Pablo, Pérez-Tur, Jordi, Cardona, Fernando, Menendez-Gonzalez, Manuel, Riancho, Javier, Borrego-Hernández, Daniel, Galán-Dávila, Lucia, Ceberio, Jon Infante, Pastor, Pau, Paradas, Carmen, Dols-Icardo, Oriol, Traynor, Bryan J, Feldman, Eva L, Goutman, Stephen A
Published in Neurology. Genetics (01.10.2023)
Published in Neurology. Genetics (01.10.2023)
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Journal Article