A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Arranz-Canales, Elena, de Aragón, Ana Martínez, Hernández-Sánchez, Laura, Rodríguez-Fornés, Fátima, Carnicero-Rodríguez, Patricia, Morales-Conejo, Montserrat, Martín-Hernández, Elena, Martínez-Azorín, Francisco
Published in Journal of genetics (01.12.2020)
Published in Journal of genetics (01.12.2020)
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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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Steroids for familial acute necrotizing encephalopathy: A future investment?
Soriano-Ramos, María, Navarro-Abia, Virginia, Enamorado, Noemí Núñez, Camacho-Salas, Ana, De Aragón, Ana Martínez, García-Hoyos, María, de las Heras, Rogelio Simón
Published in Clinical neurology and neurosurgery (01.11.2018)
Published in Clinical neurology and neurosurgery (01.11.2018)
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Neurocutaneous Melanosis: An Illustrative Patient
Guerra-García, Pilar, MD, Martínez-de-Aragón, Ana, MD, Camacho, Ana, MD
Published in Pediatric neurology (01.09.2014)
Published in Pediatric neurology (01.09.2014)
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Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation
Carreño, Oriel, García-Silva, María Teresa, García-Campos, Óscar, Martínez-de Aragón, Ana, Cormand, Bru, Macaya, Alfons
Published in Headache (01.11.2011)
Published in Headache (01.11.2011)
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Apert syndrome: Cranial procedures and brain malformations in a series of patients
Munarriz, Pablo M, Pascual, Beatriz, Castaño-Leon, Ana M, García-Recuero, Ignacio, Redondo, Marta, de Aragón, Ana Martínez, Romance, Ana
Published in Surgical neurology international (29.10.2020)
Published in Surgical neurology international (29.10.2020)
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Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
Quijada-Fraile, Pilar, O'Callaghan, Mar, Martín-Hernández, Elena, Montero, Raquel, Garcia-Cazorla, Àngels, de Aragón, Ana Martínez, Muchart, Jordi, Málaga, Ignacio, Pardo, Rafael, García-Gonzalez, Pedro, Jou, Cristina, Montoya, Julio, Emperador, Sonia, Ruiz-Pesini, Eduardo, Arenas, Joaquín, Martin, Miguel Angel, Ormazabal, Aida, Pineda, Mercè, García-Silva, María T, Artuch, Rafael
Published in Orphanet journal of rare diseases (24.12.2014)
Published in Orphanet journal of rare diseases (24.12.2014)
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Actividad cerebral en jóvenes infectados por el virus de la inmunodeficiencia humana por transmisión vertical: estudio piloto de resonancia magnética funcional
Martín-Bejarano García, Manuela, Ruiz Sáez, Beatriz, Zamora, Berta, Martínez de Aragón Calvo, Ana, García Navarro, Cristina, Jiménez de Ory, Santiago, Velo Higueras, Carlos, Ramos, J. T., Sainz, Talía, Escosa, L., Núñez Enamorado, Noemí, Stephan-Otto Attolini, Christian, Navarro, María Luisa, González Tomé, María Isabel
Published in Revista de neurologiá (16.05.2021)
Published in Revista de neurologiá (16.05.2021)
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Alteraciones del lenguaje en la cerebelitis aguda: más allá de la disartria
Barragán Martínez, Diego, Núñez Enamorado, Noemí, Berenguer Potenciano, María, Víllora Morcillo, Nuria, Martínez de Aragón Calvo, Ana, Camacho Salas, Ana
Published in Revista de neurologiá (2017)
Published in Revista de neurologiá (2017)
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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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Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review
Navarro-Abia, Virginia, Soriano-Ramos, María, Núñez-Enamorado, Noemí, Camacho-Salas, Ana, Martinez-de Aragón, Ana, Martín-Hernández, Elena, Simón-de las Heras, Rogelio
Published in Brain & development (Tokyo. 1979) (01.04.2018)
Published in Brain & development (Tokyo. 1979) (01.04.2018)
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Ictus en pacientes pediátricos con anemia falciforme
Díaz Díaz, Judit, Camacho Salas, Ana, Núñez Enamorado, Noemí, Carro Rodríguez, Miguel Ángel, Sánchez Galán, Victoria, Martínez de Aragón Calvo, Ana, Simón de las Heras, Rogelio
Published in Revista de neurologiá (2014)
Published in Revista de neurologiá (2014)
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Posterior reversible encephalopathy syndrome (PRES): a rare condition after resection of posterior fossa tumors: two new cases and review of the literature
Quarante, Lain Hermes González, Mena-Bernal, José Hinojosa, Martín, Beatriz Pascual, Carrasco, Marta Ramírez, Casado, María Jesús Muñoz, de Aragón, Ana Martínez, de las Heras, Rogelio Simón
Published in Child's nervous system (01.05.2016)
Published in Child's nervous system (01.05.2016)
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Differential dorsolateral prefrontal cortex activation during a verbal n-back task according to sensory modality
Rodriguez-Jimenez, Roberto, Avila, Cesar, Garcia-Navarro, Cristina, Bagney, Alexandra, Aragon, Ana Martinez de, Ventura-Campos, Noelia, Martinez-Gras, Isabel, Forn, Cristina, Ponce, Guillermo, Rubio, Gabriel, Jimenez-Arriero, Miguel Angel, Palomo, Tomas
Published in Behavioural brain research (14.12.2009)
Published in Behavioural brain research (14.12.2009)
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Correction: 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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Role of Magnetic Resonance Imaging and Cranial Ultrasonography in Congenital Cytomegalovirus Infection
Blázquez-Gamero, Daniel, Soriano-Ramos, María, Martínez de Aragón, Ana, Baquero-Artigao, Fernando, Frick, Marie Antoinette, Noguera-Julian, Antoni, Alonso-Ojembarrena, Almudena, Moliner Calderón, Elisenda, Rives Ferreiro, María Teresa, Filgueira Posse, Ana, Garrote Llanos, Elisa, Sota Busselo, Itziar, Santos, Mar, Tagarro García, Alfredo, Bustamante, Jorge, Soler-Palacín, Pere, Fortuny Guasch, Claudia, Rojo Conejo, Pablo
Published in The Pediatric infectious disease journal (01.11.2019)
Published in The Pediatric infectious disease journal (01.11.2019)
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