Kết quả tìm kiếm - Martinez-Azorin, Francisco
- Đang hiển thị 1 - 8 kết quả của 8
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Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion Bằng Martínez-Azorín, Francisco, Calleja, Manuel, Hernández-Sierra, Rosana, Farr, Carol L., Kaguni, Laurie S., Garesse, Rafael
Được phát hành 2007Text -
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The P1/P2 proteins of the human ribosomal stalk are required for ribosome binding and depurination by ricin in human cells Bằng May, Kerrie L., Li, Xiao-Ping, Martínez-Azorín, Francisco, Ballesta, Juan P.G., Grela, Przemysław, Tchórzewski, Marek, Tumer, Nilgun E.
Được phát hành 2012Text -
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A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome Bằng Rivera, Henry, Martín-Hernández, Elena, Delmiro, Aitor, García-Silva, María Teresa, Quijada-Fraile, Pilar, Muley, Rafael, Arenas, Joaquín, Martín, Miguel A, Martínez-Azorín, Francisco
Được phát hành 2013Text -
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A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome Bằng Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Bellusci, Marcello, Martínez de Aragón, Ana, Hernández-Sánchez, Laura, Carnicero-Rodríguez, Patricia, Martín-Hernández, Elena, Martínez-Azorín, Francisco
Được phát hành 2019Text -
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Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis Bằng Ganapathi, Mythily, Argyriou, Loukas, Martínez-Azorín, Francisco, Morlot, Susanne, Yigit, Gökhan, Lee, Teresa M., Auber, Bernd, von Gise, Alexander, Petrey, Donald S., Thiele, Holger, Cyganek, Lukas, Sabater-Molina, María, Ahimaz, Priyanka, Cabezas-Herrera, Juan, Sorlí-García, Moisés, Zibat, Arne, Siegelin, Markus D., Burfeind, Peter, Buchovecky, Christie M., Hasenfuss, Gerd, Honig, Barry, Li, Yun, Iglesias, Alejandro D., Wollnik, Bernd
Được phát hành 2020Text -
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment Bằng Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry
Được phát hành 2019Text -
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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase Bằng Lopes Abath Neto, Osorio, Medne, Livija, Donkervoort, Sandra, Rodríguez-García, Maria Elena, Bolduc, Véronique, Hu, Ying, Guadagnin, Eleonora, Foley, A Reghan, Brandsema, John F, Glanzman, Allan M, Tennekoon, Gihan I, Santi, Mariarita, Berger, Justin H, Megeney, Lynn A, Komaki, Hirofumi, Inoue, Michio, Cotrina-Vinagre, Francisco Javier, Hernández-Lain, Aurelio, Martin-Hernández, Elena, Williams, Linford, Borell, Sabine, Schorling, David, Lin, Kimberly, Kolokotronis, Konstantinos, Lichter-Konecki, Uta, Kirschner, Janbernd, Nishino, Ichizo, Banwell, Brenda, Martínez-Azorín, Francisco, Burgon, Patrick G, Bönnemann, Carsten G
Được phát hành 2021Text