Search Results - "Galán–Dávila, Lucia"

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study by Galán Dávila, Lucía, Martinez Valle, Fernando, Buades Reinés, Juan, Gonzalez-Moreno, Juan, Losada López, Inés, Sevilla, Teresa, Muñoz Beamud, Francisco, Bárcena Llona, José Eulalio, Romero Acebal, Manuel, Setaro, Francesca, Primiano, Diana, Tarilonte, Patricia

“…Variant transthyretin amyloidosis (ATTRv) is a rare multisystemic disorder caused by mutations in the transthyretin (TTR) gene. The aim of the present work was…”
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Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement by de la Fuente-Munoz, Eduardo, Van Den Rym, Ana, García-Solis, Blanca, Ochoa Grullón, Juliana, Guevara-Hoyer, Kissy, Fernández-Arquero, Miguel, Galán Dávila, Lucía, Matías-Guiú, Jorge, Sánchez-Ramón, Silvia, Pérez de Diego, Rebeca

“…Gain-of-function (GOF) mutations in STIM1 are responsible for tubular aggregate myopathy and Stormorken syndrome (TAM/STRMK), a clinically overlapping…”
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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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Periodic Lateralized Epileptiform Discharges: Etiology, Clinical Aspects, Seizures, and Evolution in 130 Patients by García–Morales, Irene, García, M Teresa, Galán–Dávila, Lucia, Gómez–Escalonilla, Carlos, Saiz–Díaz, Rosana, Martínez–Salio, Antonio, de la Peña, Pilar, Tejerina, Julian A

“…SUMMARY The purpose of this study was to analyze the clinical aspects in 130 patients presenting periodic lateralized epileptiform discharges (PLEDs) in their…”
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry by Martinez-Marin, Rafael Jenaro, Reyes-Leiva, David, Nascimento, Andrés, Muelas, Nuria, Dominguez-González, C., Paradas, Carmen, Olivé, Montse, García-Romero, Mar, Pascual-Pascual, Samuel Ignacio, Grau, Josep Maria, Barba-Romero, Miguel Angel, Gomez-Caravaca, Maria Teresa, de las Heras, Javier, Casquero, Pilar, Mendoza, Maria Dolores, de León, Juan Carlos, Gutierrez, Antonio, Morís, Germán, Blanco-Lago, Raquel, Ramos-Fransi, Alba, Pintós, Guillem, García-Antelo, Maria José, Rabasa, Maria, Morgado, Yolanda, Usón, Mercedes, Miralles, Francisco Javier, Bárcena-Llona, Jose Eulalio, Gómez-Belda, Ana Belén, Pedraza-Hueso, Maria Isabel, Hortelano, Miryam, Colomé, Antoni, Garcia-Martin, Guillermina, Lopez de Munain, Adolfo, Jericó, Ivonne, Galán-Dávila, Lucía, Pardo, Julio, Salgueiro-Origlia, Giorgina, Alonso-Pérez, Jorge, Pla-Junca, Francesc, Schiava, Marianela, Segovia-Simón, Sonia, Díaz-Manera, Jordi

“…•We have been able to collect demographic, genetic and clinical data of a large series of patients with Pompe disease in Spain.•The estimated prevalence of…”
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Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations by Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Serrano-Lorenzo, Pablo, Blázquez-Encinar, Alberto, Gutiérrez-Gutiérrez, Gerardo, Martínez-Vicente, Laura, Galán-Dávila, Lucía, García-García, Jorge, Arenas, Joaquín, Muelas, Nuria, Hernández-Laín, Aurelio, Domínguez-González, Cristina, Martín, Miguel A

“…Autosomal dominant mutations in the gene, which encodes a mitochondrial DNA helicase, cause adult-onset progressive external ophthalmoplegia (PEO) and PEO-plus…”
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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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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia by Dols-Icardo, Oriol, García-Redondo, Alberto, Rojas-García, Ricard, Sánchez-Valle, Raquel, Noguera, Aina, Gómez-Tortosa, Estrella, Pastor, Pau, Hernández, Isabel, Esteban-Pérez, Jesús, Suárez-Calvet, Marc, Antón-Aguirre, Sofía, Amer, Guillermo, Ortega-Cubero, Sara, Blesa, Rafael, Fortea, Juan, Alcolea, Daniel, Capdevila, Aura, Antonell, Anna, Lladó, Albert, Muñoz-Blanco, José Luís, Mora, Jesús S, Galán-Dávila, Lucía, Rodríguez De Rivera, Francisco Javier, Lleó, Alberto, Clarimón, Jordi

“…Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal…”
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Recommendations update for the diagnosis and treatment of transthyretin variant amyloidosis (ATTRv) by González-Moreno, Juan, Galán Dávila, Lucía, Gonzalez-Lopez, Esther, Conceiçao, Isabel

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Recommendations update for the diagnosis and treatment of transthyretin variant amyloidosis (ATTRv) by González-Moreno, Juan, Galán Dávila, Lucía, Gonzalez-Lopez, Esther, Conceiçao, Isabel, Barriales-Villa, Roberto, Falcão de Campos, Catarina, Cardoso, Márcio Neves, Casasnovas, Carlos, Fernández-Martín, Julián, Morales, Raúl Juntas, López, Inés Losada, Martínez-Vicente, Laura, Muñoz-Beamud, Francisco, Quintana, Luis F., Sevilla, Teresa

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Real life experience of tafamidis for the treatment of Spanish patients with Val30Met transthyretin amyloidosis with polyneuropathy by Sanso, Maria Antonia Ribot, Rodriguez, Adrián Rodriguez, Vicente, Laura Martínez, Sevilla, Teresa, Garro, Cristina Borrachero, Martín, Julian Fernández, Vicente, Adrián Antón, de la Prida, Moises Morales, Dávila, Lucía Galán, Vázquez, Laura González, Valle, Ferran Martínez, Pons, Carlos Casasnovas, Bau, Arturo Fraga, Barroso, Eugenia Cisneros, López, Inés Losada, González-Moreno, Juan

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RNAi Therapy in ATTRv Amyloidosis with Polyneuropathy (HELIOS-A): Patient-reported Experiences and Preferences (P3-4.001) by Gonzalez-Duarte, Alejandra, Obici, Laura Piera, Davila, Lucia Galan, Berk, John, Bender, Shaun, Jain, Siddharth, Kumar, Varun, Capocelli, Kelley, Polydefkis, Michael

“…Abstract only…”
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Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy by Coelho, Teresa, Marques, Jr, Wilson, Dasgupta, Noel R, Chao, Chi-Chao, Parman, Yesim, França, Jr, Marcondes Cavalcante, Guo, Yuh-Cherng, Wixner, Jonas, Ro, Long-Sun, Calandra, Cristian R, Kowacs, Pedro A, Berk, John L, Obici, Laura, Barroso, Fabio A, Weiler, Markus, Conceição, Isabel, Jung, Shiangtung W, Buchele, Gustavo, Brambatti, Michela, Chen, Jersey, Hughes, Steven G, Schneider, Eugene, Viney, Nicholas J, Masri, Ahmad, Gertz, Morie R, Ando, Yukio, Gillmore, Julian D, Khella, Sami, Dyck, P James B, Waddington Cruz, Márcia

“…Transthyretin gene silencing is an emerging treatment strategy for hereditary transthyretin (ATTRv) amyloidosis. To evaluate eplontersen, an investigational…”
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Sex-Related Risk of Cardiac Involvement in Hereditary Transthyretin Amyloidosis: Insights From THAOS by Caponetti, Angelo Giuseppe, Rapezzi, Claudio, Gagliardi, Christian, Milandri, Agnese, Dispenzieri, Angela, Kristen, Arnt V, Wixner, Jonas, Maurer, Mathew S, Garcia-Pavia, Pablo, Tournev, Ivailo, Planté-Bordeneuve, Violaine, Chapman, Douglass, Amass, Leslie

“…Because patients with ATTRv cardiomyopathy are more likely to be male, this analysis aimed to increase information on associations between sex and genotype,…”
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Complicaciones neuromusculares del paciente crítico: síndrome neuromuscular adquirido by Galán Dávila, Lucía

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Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement by de la Fuente-Munoz, Eduardo, Van Den Rym, Ana, García-Solis, Blanca, Ochoa Grullón, Juliana, Guevara-Hoyer, Kissy, Fernández-Arquero, Miguel, Galán Dávila, Lucía, Matías-Guiú, Jorge, Sánchez-Ramón, Silvia, Pérez de Diego, Rebeca

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Panencefalitis esclerosante subaguda de comienzo en la edad adulta: hallazgos clinicopatológicos by González de la Aleja Tejera, Jesús, Posada Rodríguez, Ignacio Javier, Sepúlveda Sánchez, Juan Manuel, Galán Dávila, Lucía, Conde Gallego, Esther, Ricoy Campo, José Ramón

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Quiste aracnoideo espinal intradural relacionado con síndrome de Noonan by Gómez-Escalonilla Escobar, Carlos Ignacio, Giménez Torres, María José, García Morales, Irene, Galán Dávila, Lucía, Floriach, M., Mateos Beato, Fernando

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Quistes aracnoideos intracraneales. Estudio de una serie de 35 casos by Gómez-Escalonilla Escobar, Carlos Ignacio, García Morales, Irene, Galán Dávila, Lucía, Giménez Torres, María José, Simón de las Heras, Rogelio, Valencia, Julio, Mateos Beato, Fernando

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