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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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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Poststroke dementia: Clinical features and risk factors
BARBA, R, MARTINEZ-ESPINOSA, S, RODRIGUEZ-GARCIA, E, PONDAL, M, VIVANCOS, J, DEL SER, T
Published in Stroke (1970) (01.07.2000)
Published in Stroke (1970) (01.07.2000)
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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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Discontinuation of Peritoneal Dialysis after Late Initiation of Eculizumab in a Case of Familial Atypical Hemolytic-Uremic Syndrome: A Case Report
Alonso Valente, Rafael, García Rodríguez, Giannina Elena, García Marcote, Yanina, Fidalgo Díaz, Manuel, Becerra Mosquera, Vanesa, Novoa García, Daniel, Cordal Martínez, Teresa, Díaz Rodríguez, Cándido
Published in Case reports in nephrology and dialysis (02.03.2017)
Published in Case reports in nephrology and dialysis (02.03.2017)
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Hepcidin treatment in Hfe−/− mice diminishes plasma iron without affecting erythropoiesis
Morán-Jiménez, María-Josefa, Méndez, Manuel, Santiago, Begoña, Rodríguez-García, María-Elena, Moreno-Carralero, María-Isabel, Sánchez-Lucío, Ana-Cristina, Grau, Montserrat, Enríquez-de-Salamanca, Rafael
Published in European journal of clinical investigation (01.06.2010)
Published in European journal of clinical investigation (01.06.2010)
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Verapamil as treatment for refractory status epilepticus secondary to PRES syndrome on a SARS-Cov-2 infected patient
Gómez-Enjuto, Sara, Hernando-Requejo, Virgilio, Lapeña-Motilva, José, Ogando-Durán, Gonzalo, Fouz-Ruiz, Daniel, Domingo-García, Julio, Rodríguez-García, Elena, Cemillán-Fernández, Carlos Alberto
Published in Seizure (London, England) (01.08.2020)
Published in Seizure (London, England) (01.08.2020)
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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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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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A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
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
Published in European journal of human genetics : EJHG (01.09.2019)
Published in European journal of human genetics : EJHG (01.09.2019)
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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
Martín-Hernández, Elena, Rodríguez-García, María Elena, Camacho, Ana, Matilla-Dueñas, Antoni, García-Silva, María Teresa, Quijada-Fraile, Pilar, Corral-Juan, Marc, Tejada-Palacios, Pilar, de Las Heras, Rogelio Simón, Arenas, Joaquín, Martín, Miguel A., Martínez-Azorín, Francisco
Published in Neurogenetics (01.10.2016)
Published in Neurogenetics (01.10.2016)
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Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene
Martín-Hernández, Elena, García-Silva, María Teresa, Quijada-Fraile, Pilar, Rodríguez-García, María Elena, Rivera, Henry, Hernández-Laín, Aurelio, Coca-Robinot, David, Fernández-Toral, Joaquín, Arenas, Joaquín, Martín, Miguel A, Martínez-Azorín, Francisco
Published in Pediatric and developmental pathology (01.09.2017)
Published in Pediatric and developmental pathology (01.09.2017)
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First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
Rodríguez-García, María Elena, Martín-Hernández, Elena, de Aragón, Ana Martínez, García-Silva, María Teresa, Quijada-Fraile, Pilar, Arenas, Joaquín, Martín, Miguel A., Martínez-Azorín, Francisco
Published in Neurogenetics (2016)
Published in Neurogenetics (2016)
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Risk and outcomes of COVID‐19 in patients with multiple sclerosis
Moreno‐Torres, Irene, Meca Lallana, Virginia, Costa‐Frossard, Lucienne, Oreja‐Guevara, Celia, Aguirre, Clara, Alba Suárez, Elda María, Gómez Moreno, Mayra, Borrega Canelo, Laura, Sabín Muñoz, Julia, Aladro, Yolanda, Cárcamo, Alba, Rodríguez García, Elena, Cuello, Juan Pablo, Monreal, Enric, Sainz de la Maza, Susana, Pérez Parra, Fernando, Valenzuela Rojas, Francisco, López de Silanes de Miguel, Carlos, Casanova, Ignacio, Martínez Gines, Maria Luisa, Blasco, Rosario, Orviz García, Aida, Villar‐Guimerans, Luisa María, Fernández‐Dono, Guillermo, Elvira, Víctor, Santiuste, Carmen, Espiño, Mercedes, García Domínguez, José Manuel
Published in European journal of neurology (01.11.2021)
Published in European journal of neurology (01.11.2021)
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Successful Isavuconazole Salvage Therapy for a Cryptococcus deuterogattii (AFLP6/VGII) Disseminated Infection in a European Immunocompetent Patient
Cuetara, Maria Soledad, Jusdado Ruiz-Capillas, Juan José, Nuñez-Valentin, Maria Pilar, Rodríguez Garcia, Elena, Garcia-Benayas, Elena, Rojo-Amigo, Ricardo, Rodriguez-Gallego, Jose Carlos, Hagen, Ferry, Colom, María Francisca
Published in Mycopathologia (1975) (01.08.2021)
Published in Mycopathologia (1975) (01.08.2021)
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Effects of Oral Supplementation with Docosahexaenoic Acid (DHA) plus Antioxidants in Pseudoexfoliative Glaucoma: A 6-Month Open-Label Randomized Trial
Domingo, Joan Carles, Sagastagoia Epelde, Olatz, Rodríguez García, Elena, Romeo Villadóniga, Stéphanie, Álvarez Díaz, M. Dolores
Published in Journal of ophthalmology (01.01.2018)
Published in Journal of ophthalmology (01.01.2018)
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Burden and health-related quality of life of Spanish caregivers of persons with multiple sclerosis
Rivera-Navarro, J., Benito-León, J., Oreja-Guevara, C., Pardo, J., Bowakim Dib, W., Orts, E., Belló, M.
Published in Multiple sclerosis (01.11.2009)
Published in Multiple sclerosis (01.11.2009)
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