Adult‐onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene
Martín‐Jiménez, Paloma, Fuenmayor‐Fernández de la Hoz, Carlos Pablo de, Hernández‐Laín, Aurelio, Arteche‐López, Ana, Quesada‐Espinosa, Juan Francisco, Voth, Ana Hernández, Vesperinas, Ana, Olivé, Montse, Domínguez‐González, Cristina
Published in Muscle & nerve (01.10.2022)
Published in Muscle & nerve (01.10.2022)
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Journal Article
Glioblastoma on a microfluidic chip: Generating pseudopalisades and enhancing aggressiveness through blood vessel obstruction events
Ayuso, Jose M, Monge, Rosa, Martínez-González, Alicia, Virumbrales-Muñoz, María, Llamazares, Guillermo A, Berganzo, Javier, Hernández-Laín, Aurelio, Santolaria, Jorge, Doblaré, Manuel, Hubert, Christopher, Rich, Jeremy N, Sánchez-Gómez, Pilar, Pérez-García, Víctor M, Ochoa, Ignacio, Fernández, Luis J
Published in Neuro-oncology (Charlottesville, Va.) (01.04.2017)
Published in Neuro-oncology (Charlottesville, Va.) (01.04.2017)
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Journal Article
Inhibition of DYRK1A destabilizes EGFR and reduces EGFR-dependent glioblastoma growth
Pozo, Natividad, Zahonero, Cristina, Fernández, Paloma, Liñares, Jose M, Ayuso, Angel, Hagiwara, Masatoshi, Pérez, Angel, Ricoy, Jose R, Hernández-Laín, Aurelio, Sepúlveda, Juan M, Sánchez-Gómez, Pilar
Published in The Journal of clinical investigation (01.06.2013)
Published in The Journal of clinical investigation (01.06.2013)
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Journal Article
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum
Mroczek, Magdalena, Longman, Cheryl, Farrugia, Maria Elena, Kapetanovic Garcia, Solange, Ardicli, Didem, Topaloglu, Haluk, Hernández-Laín, Aurelio, Orhan, Diclehan, Alikasifoglu, Mehmet, Duff, Jennifer, Specht, Sabine, Nowak, Kristen, Ravenscroft, Gianina, Chao, Katherine, Valivullah, Zaheer, Donkervoort, Sandra, Saade, Dimah, Bönnemann, Carsten, Straub, Volker, Yoon, Grace
Published in Journal of medical genetics (01.11.2022)
Published in Journal of medical genetics (01.11.2022)
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Journal Article
Preclinical Test of Dacomitinib, an Irreversible EGFR Inhibitor, Confirms Its Effectiveness for Glioblastoma
Zahonero, Cristina, Aguilera, Pilar, Ramírez-Castillejo, Carmen, Pajares, Marta, Bolós, Maria Victoria, Cantero, Diana, Perez-Nuñez, Angel, Hernández-Laín, Aurelio, Sánchez-Gómez, Pilar, Sepúlveda, Juan Manuel
Published in Molecular cancer therapeutics (01.07.2015)
Published in Molecular cancer therapeutics (01.07.2015)
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Journal Article
Clinical, Histopathologic and Genetic Features of Rhabdoid Meningiomas
Garrido Ruiz, Patricia Alejandra, González-Tablas, María, Pasco Peña, Alejandro, Zelaya Huerta, María Victoria, Ortiz, Javier, Otero, Álvaro, Corchete, Luis Antonio, Ludeña, María Dolores, Caballero Martínez, María Cristina, Córdoba Iturriagagoitia, Alicia, Fernández, Inmaculada Catalina, González-Carreró Fojón, Joaquín, Hernández Laín, Aurelio, Orfao, Alberto, Tabernero, María Dolores
Published in International journal of molecular sciences (06.01.2023)
Published in International journal of molecular sciences (06.01.2023)
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Journal Article
Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study
Laine-Menéndez, Sara, Domínguez-González, Cristina, Blázquez, Alberto, Delmiro, Aitor, García-Consuegra, Inés, Fernández-de la Torre, Miguel, Hernández-Laín, Aurelio, Sayas, Javier, Martín, Miguel Ángel, Morán, María
Published in International journal of molecular sciences (25.05.2021)
Published in International journal of molecular sciences (25.05.2021)
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Journal Article
Muscle fiber type proportion and size is not altered in mcardle disease
Henning, Franclo, Cunninghame, Carol Anne, Martín, Miguel Angel, Rubio, Juan Carlos, Arenas, Joaquín, Lucia, Alejandro, HernáNdez‐Laín, Aurelio, Kohn, Tertius Abraham
Published in Muscle & nerve (01.06.2017)
Published in Muscle & nerve (01.06.2017)
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Journal Article
Safety and Efficacy of Crizotinib in Combination with Temozolomide and Radiotherapy in Patients with Newly Diagnosed Glioblastoma: Phase Ib GEINO 1402 Trial
Martínez-García, María, Velasco, Guillermo, Pineda, Estela, Gil-Gil, Miguel, Alameda, Francesc, Capellades, Jaume, Martín-Soberón, Mari Cruz, López-Valero, Israel, Tovar Ambel, Elena, Foro, Palmira, Taus, Álvaro, Arumi, Montserrat, Hernández-Laín, Aurelio, Sepúlveda-Sánchez, Juan Manuel
Published in Cancers (12.05.2022)
Published in Cancers (12.05.2022)
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Journal Article
Immune Profiling of Gliomas Reveals a Connection with IDH1/2 Mutations, Tau Function and the Vascular Phenotype
Cejalvo, Teresa, Gargini, Ricardo, Segura-Collar, Berta, Mata-Martínez, Pablo, Herranz, Beatriz, Cantero, Diana, Ruano, Yolanda, García-Pérez, Daniel, Pérez-Núñez, Ángel, Ramos, Ana, Hernández-Laín, Aurelio, Martín-Soberón, María Cruz, Sánchez-Gómez, Pilar, Sepúlveda-Sánchez, Juan M.
Published in Cancers (01.11.2020)
Published in Cancers (01.11.2020)
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Journal Article
The EGFR-TMEM167A-p53 Axis Defines the Aggressiveness of Gliomas
Segura-Collar, Berta, Gargini, Ricardo, Tovar-Ambel, Elena, Hernández-SanMiguel, Esther, Epifano, Carolina, Pérez de Castro, Ignacio, Hernández-Laín, Aurelio, Casas-Tintó, Sergio, Sánchez-Gómez, Pilar
Published in Cancers (14.01.2020)
Published in Cancers (14.01.2020)
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Journal Article
NKG2C/KLRC2 tumor cell expression enhances immunotherapeutic efficacy against glioblastoma
de Dios, Olaya, Ramírez-González, M Angeles, Gómez-Soria, Irene, Segura-Collar, Berta, Manosalva, Juliana, Megías, Diego, De Andrea, Carlos E, Fernández-Rubio, Leticia, Hernández-Laín, Aurelio, Sepúlveda-Sánchez, Juan M, Rodriguez-Ruiz, Maria E, Pérez-Núñez, Ángel, Wainwright, Derek A, Gargini, Ricardo, Sánchez-Gómez, Pilar
Published in Journal for immunotherapy of cancer (30.08.2024)
Published in Journal for immunotherapy of cancer (30.08.2024)
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Journal Article
Codeletion of 1p and 19q determines distinct gene methylation and expression profiles in IDH-mutated oligodendroglial tumors
Mur, Pilar, Mollejo, Manuela, Ruano, Yolanda, de Lope, Ángel Rodríguez, Fiaño, Concepción, García, Juan Fernando, Castresana, Javier S., Hernández-Laín, Aurelio, Rey, Juan A., Meléndez, Bárbara
Published in Acta neuropathologica (01.08.2013)
Published in Acta neuropathologica (01.08.2013)
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Evidence-Based Diagnostic Algorithm for Glioma: Analysis of the Results of Pathology Panel Review and Molecular Parameters of EORTC 26951 and 26882 Trials
Kros, Johan M, Huizer, Karin, Hernández-Laín, Aurelio, Marucci, Gianluca, Michotte, Alex, Pollo, Bianca, Rushing, Elisabeth J, Ribalta, Teresa, French, Pim, Jaminé, David, Bekka, Nawal, Lacombe, Denis, van den Bent, Martin J, Gorlia, Thierry
Published in Journal of clinical oncology (10.06.2015)
Published in Journal of clinical oncology (10.06.2015)
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Journal Article
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
Muñoz-García, Mariana I, Guerrero-Molina, María Paz, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Bermejo-Guerrero, Laura, Arteche-López, Ana, Hernández-Laín, Aurelio, Martín, Miguel A, Domínguez-González, Cristina
Published in Journal of clinical medicine (06.05.2023)
Published in Journal of clinical medicine (06.05.2023)
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Journal Article
Integrated analysis of mismatch repair system in malignant astrocytomas
Rodríguez-Hernández, Irene, Garcia, Juan Luis, Santos-Briz, Angel, Hernández-Laín, Aurelio, González-Valero, Jose María, Gómez-Moreta, Juan Antonio, Toldos-González, Oscar, Cruz, Juan Jesús, Martin-Vallejo, Javier, González-Sarmiento, Rogelio
Published in PloS one (20.09.2013)
Published in PloS one (20.09.2013)
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Journal Article
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Morís, Germán, Jiménez-Mallebrera, Cecilia, Badosa, Carmen, Hernández-Laín, Aurelio, Blázquez Encinar, Alberto, Martín, Miguel Ángel, Domínguez-González, Cristina
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation
De Fuenmayor-Fernández De La Hoz, Carlos Pablo, Domínguez-González, Cristina, Gonzalo-Martínez, Juan Francisco, Esteban-Pérez, Jesús, Fernández-Marmiesse, Ana, Arenas, Joaquín, Martín, Miguel A., Hernández-Laín, Aurelio
Published in Muscle & nerve (01.10.2016)
Published in Muscle & nerve (01.10.2016)
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Journal Article
Localized Bilateral Superior and Inferior Orbital Neurofibroma in the Absence of Neurofibromatosis
Rojas-Correa, Daniela, Bengoa-González, Álvaro, Mencía-Gutiérrez, Enrique, Hernández-Laín, Aurelio, Salvador, Elena, Martín-Clavijo, Agustín, Jiménez-Almonacid, Justino, Lago-Llinás, María-Dolores
Published in Case reports in ophthalmological medicine (04.06.2021)
Published in Case reports in ophthalmological medicine (04.06.2021)
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