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A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study
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
Published in Orphanet journal of rare diseases (06.09.2024)
Published in Orphanet journal of rare diseases (06.09.2024)
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Journal Article
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement
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
Published in Frontiers in immunology (24.06.2022)
Published in Frontiers in immunology (24.06.2022)
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Journal Article
Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study
Losada López, Inés, Gonzalez-Moreno, Juan, Buades Reinés, Juan, Sevilla, Teresa, Martinez Valle, Fernando, Galán Dávila, Lucía, Muñoz Beamud, Francisco, Bárcena Llona, José Eulalio, Romero Acebal, Manuel, Tarilonte, Patricia, Setaro, Francesca
Published in Journal of clinical medicine (13.12.2024)
Published in Journal of clinical medicine (13.12.2024)
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Journal Article
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
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
Published in Neuromuscular disorders : NMD (01.01.2024)
Published in Neuromuscular disorders : NMD (01.01.2024)
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Journal Article
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations
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.
Published in Journal of clinical medicine (22.12.2021)
Published in Journal of clinical medicine (22.12.2021)
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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, 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., P´erez, Jes´us Esteban, V´azquez, Pilar Cordero, Teresa, Sevilla, L´opez de Munain, Adolfo, Fern´andez, Julio Pardo, Pascual, Ivonne Jeric´o-, Mantius, Ellen Gelpi, Hoenicka, Janet, Martinez, Victoria Alvarez, Rodr´ıguez de Rivera Garrido, Francisco Javier, Beyer, Katrin, Echevarr´ıa, Jordi Clarim´on
Published in Neurology. Genetics (01.08.2023)
Published in Neurology. Genetics (01.08.2023)
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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, 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
Recommendations update for the diagnosis and treatment of transthyretin variant amyloidosis (ATTRv)
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
Published in Medicina clínica (English ed.) (27.09.2024)
Published in Medicina clínica (English ed.) (27.09.2024)
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Journal Article
Real life experience of tafamidis for the treatment of Spanish patients with Val30Met transthyretin amyloidosis with polyneuropathy
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
Published in Medicina clínica (English ed.) (01.05.2024)
Published in Medicina clínica (English ed.) (01.05.2024)
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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
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
Dols-Icardo, O., Garcia-Redondo, A., Rojas-Garcia, R., Sanchez-Valle, R., Noguera, A., Gomez-Tortosa, E., Pastor, P., Hernandez, I., Esteban-Perez, J., Suarez-Calvet, M., Anton-Aguirre, S., Amer, G., Ortega-Cubero, S., Blesa, R., Fortea, J., Alcolea, D., Capdevila, A., Antonell, A., Llado, A., Munoz-Blanco, J. L., Mora, J. S., Galan-Davila, L., Rodriguez De Rivera, F. J., Lleo, A., Clarimon, J.
Published in Human molecular genetics (01.02.2014)
Published in Human molecular genetics (01.02.2014)
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Journal Article
Panencefalitis esclerosante subaguda de comienzo en la edad adulta: hallazgos clinicopatológicos
González de la Aleja Tejera, Jesús, Posada Rodríguez, Ignacio Javier, Sepúlveda Sánchez, Juan Manuel, Galán Dávila, Lucía, Conde Gallego, Esther, Ricoy Campo, José Ramón
Published in Revista de neurologiá (2005)
Published in Revista de neurologiá (2005)
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Journal Article
Quiste aracnoideo espinal intradural relacionado con síndrome de Noonan
Gómez-Escalonilla Escobar, Carlos Ignacio, Giménez Torres, María José, García Morales, Irene, Galán Dávila, Lucía, Floriach, M., Mateos Beato, Fernando
Published in Revista de neurologiá (01.05.2001)
Published in Revista de neurologiá (01.05.2001)
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Journal Article
Quistes aracnoideos intracraneales. Estudio de una serie de 35 casos
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
Published in Revista de neurologiá (16.08.2001)
Published in Revista de neurologiá (16.08.2001)
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Journal Article
Gamma-sarcoglinopatía. Dos nuevos casos en una familia de raza gitana en España
García Morales, Irene, Galán Dávila, Lucía, Mateos Beato, Fernando, Simón, R., Morales, P., Cabello Fernández, Ana, Gómez Escalonilla, Carlos I.
Published in Revista de neurologiá (16.08.1999)
Published in Revista de neurologiá (16.08.1999)
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Journal Article
Opsoclonus-mioclonus en paciente con sida: buena respuesta al tratamiento con inmunoglobulinas IV
García Morales, Irene, Porta Etessam, Jesús, Saiz Díaz, Rosa Ana, Gómez Escalonilla, Carlos I., Galán Dávila, Lucía, Parrilla, Guillermo, Molina Arjona, José Antonio
Published in Revista de neurologiá (16.12.1999)
Published in Revista de neurologiá (16.12.1999)
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Journal Article
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy
Coelho, Teresa, Marques, Wilson, Dasgupta, Noel R., Chao, Chi-Chao, Parman, Yeşim, França, 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, Mazzeo, Anna, Papagianni, Aikaterini, Dimachkie, Mazen, Zaganas, Ioannis, Gane, Edward, Luigetti, Marco, Galan Davila, Lucia, Mezei, Michelle, Gonzalez Moreno, Juan, Cintas, Pascal, Pareyson, Davide, Traub, Rebecca, Khoury, Julie, Estol, Conrado, Needham, Merrilee, Adams, David, Polydefkis, Michael, Brannagan, Thomas, Bril, Vera, Attarian, Shahram, Rugiero, Marcelo, Distad, Barbara, Zamba Papanicolaou, Eleni, Lin, Kon-Ping, Benson, Merrill, Scheinberg, Morton
Published in JAMA : the journal of the American Medical Association (17.10.2023)
Published in JAMA : the journal of the American Medical Association (17.10.2023)
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Journal Article