Search Results - "Borrego‐Hernández, Daniel"

Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts by Porras, Gracia, Ruiz, Silvana, Maestro, Inés, Borrego-Hernández, Daniel, Redondo, Alberto G, Martínez, Ana, Martín-Requero, Ángeles

“…The goal of this work was to elucidate the pathogenic mechanism of an ALS-associated missense mutation, p.Arg573Gly (R573G), in the gene. In particular, we…”
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Molecular Alterations in Sporadic and SOD1 -ALS Immortalized Lymphocytes: Towards a Personalized Therapy by 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

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurological condition where motor neurons (MNs) degenerate. Most of the ALS cases are sporadic (sALS), whereas…”
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TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex by 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

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the loss of upper and lower motor neurons in the brain and spinal…”
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Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population by 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

“…Intermediate CAG expansions in the gene ataxin-2 ( ) are a known risk factor for ALS, but little is known about their role in FTD risk. Moreover, their…”
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CdSe Quantum Dots in Human Models Derived from ALS Patients: Characterization, Nuclear Penetration Studies and Multiplexing by Tosat-Bitrián, Carlota, Avis-Bodas, Alicia, Porras, Gracia, Borrego-Hernández, Daniel, García-Redondo, Alberto, Martín-Requero, Angeles, Palomo, Valle

“…CdSe quantum dots (QDs) are valuable tools for deciphering molecular mechanisms in cells. Their conjugation with antibodies offers a unique staining source…”
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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 by 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

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum.ObjectivesThe purpose of the…”
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Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation by 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

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Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia by 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

“…Objective: SQSTM1-variants associated with frontotemporal lobar degeneration have been described recently. In this study, we investigated a heterozygous…”
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Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies by 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.

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Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies by 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

“…Most patients with amyotrophic lateral sclerosis (ALS) lack a monogenic mutation. This study evaluates ALS cumulative genetic risk in an independent Michigan…”
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Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease by 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

“…Background and purpose The aim of this study was to describe the frequency and distribution of SOD1 mutations in Spain, and to explore factors contributing to…”
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Intermediate Repeat Expansion in the IATXN2/I Gene as a Risk Factor in the ALS and FTD Spanish Population by 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

“…Intermediate CAG expansions in the gene ataxin-2 (ATXN2) are a known risk factor for ALS, but little is known about their role in FTD risk. Moreover, their…”
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TDP-43 is a ubiquitylation substrate of the SCF cyclin F complex by 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

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the loss of upper and lower motor neurons in the brain and spinal…”
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Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies by 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

“…[This corrects the article DOI: 10.1212/NXG.0000000000200079.]…”
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