First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL
Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Bellusci, Marcello, Hernández‐Sánchez, Laura, Aragón, Ana Martínez, López‐Laso, Eduardo, Martín‐Hernández, Elena, Martínez‐Azorín, Francisco
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia
Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Gómez‐Cano, María de los Ángeles, Martínez de Aragón, Ana, Martín‐Hernández, Elena, Martínez‐Azorín, Francisco
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Journal Article
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24
Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Cruz‐Rojo, Jaime, Garzón‐Lorenzo, Lucía, Carnicero‐Rodríguez, Patricia, Pozo, Jaime Sánchez‐Del, Martínez‐Azorín, Francisco
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Journal Article
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation
Martín-Hernández, Elena, Rodríguez-García, María Elena, Chen, Chun-An, Cotrina-Vinagre, Francisco Javier, Carnicero-Rodríguez, Patricia, Bellusci, Marcello, Schaaf, Christian P, Martínez-Azorín, Francisco
Published in Journal of human genetics (01.04.2018)
Published in Journal of human genetics (01.04.2018)
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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
May, Kerrie L., Li, Xiao‐Ping, Martínez‐Azorín, Francisco, Ballesta, Juan P. G., Grela, Przemysław, Tchórzewski, Marek, Tumer, Nilgun E.
Published in The FEBS journal (01.10.2012)
Published in The FEBS journal (01.10.2012)
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Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene
Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, Francisco
Published in Brain & development (Tokyo. 1979) (01.01.2016)
Published in Brain & development (Tokyo. 1979) (01.01.2016)
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Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome
Delmiro, Aitor, Rivera, Henry, García-Silva, María Teresa, García-Consuegra, Inés, Martín-Hernández, Elena, Quijada-Fraile, Pilar, de Las Heras, Rogelio Simón, Moreno-Izquierdo, Ana, Martín, Miguel Ángel, Arenas, Joaquín, Martínez-Azorín, Francisco
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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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
Martínez-Azorín, Francisco, Calleja, Manuel, Hernández-Sierra, Rosana, Farr, Carol L, Kaguni, Laurie S, Garesse, Rafael
Published in Journal of neurochemistry (01.04.2008)
Published in Journal of neurochemistry (01.04.2008)
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Journal Article
MUSCLE-SPECIFIC OVEREXPRESSION OF THE CATALYTIC SUBUNIT OF DNA POLYMERASE γ INDUCES PUPAL LETHALITY IN Drosophila melanogaster
Martínez-Azorín, Francisco, Calleja, Manuel, Hernández-Sierra, Rosana, Farr, Carol L., Kaguni, Laurie S., Garesse, Rafael
Published in Archives of insect biochemistry and physiology (01.07.2013)
Published in Archives of insect biochemistry and physiology (01.07.2013)
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Journal Article
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
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, Salpietro, Vincenzo, Efthymiou, Stephanie, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, 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
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
Cotrina-Vinagre, Francisco Javier, Rodríguez-García, María Elena, Del Pozo-Filíu, Lucía, Hernández-Laín, Aurelio, Arteche-López, Ana, Morte, Beatriz, Sevilla, Marta, Pérez-Jurado, Luis Alberto, Quijada-Fraile, Pilar, Camacho, Ana, Martínez-Azorín, Francisco
Published in Journal of human genetics (01.05.2024)
Published in Journal of human genetics (01.05.2024)
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Journal Article
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase
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
Published in Brain (London, England : 1878) (22.10.2021)
Published in Brain (London, England : 1878) (22.10.2021)
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Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
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
Published in Human genetics (01.11.2020)
Published in Human genetics (01.11.2020)
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Journal Article
New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient
Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Bellusci, Marcello, Merino-López, Abraham, Chumilla-Calzada, Silvia, García-Silva, María Teresa, Martínez-Azorín, Francisco
Published in Neuromuscular disorders : NMD (01.08.2021)
Published in Neuromuscular disorders : NMD (01.08.2021)
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Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
Cotrina-Vinagre, Francisco Javier, Rodríguez-García, María Elena, Martín-Hernández, Elena, Durán-Aparicio, Cristina, Merino-López, Abraham, Medina-Benítez, Enrique, Martínez-Azorín, Francisco
Published in Molecular genetics and metabolism (01.06.2021)
Published in Molecular genetics and metabolism (01.06.2021)
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Journal Article
Author's Reply: TK2-related Myopathic Mitochondrial Depletion Syndrome
Martín-Hernández, Elena, Martínez-Azorín, Francisco
Published in Pediatric and developmental pathology (01.09.2018)
Published in Pediatric and developmental pathology (01.09.2018)
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Journal Article
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Olson, Alexandra N, Sánchez-Calvin, María Teresa, de Aragón, Ana Martínez, de Las Heras, Rogelio Simón, Dinman, Jonathan D, de Vries, Bert B A, Nabais Sá, Maria João, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco
Published in Journal of human genetics (01.08.2023)
Published in Journal of human genetics (01.08.2023)
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Journal Article
Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant
Cotrina-Vinagre, Francisco Javier, Rodríguez-García, María Elena, Del Pozo-Filíu, Lucía, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco
Published in Journal of genetics (05.07.2024)
Published in Journal of genetics (05.07.2024)
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