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| Rights | Preview | Issue Date | Title | Author(s) | Type |
| closedAccess |  | 2019 | A C19MC-LIN28A-MYCN oncogenic circuit driven by hijacked super-enhancers is a distinct therapeutic vulnerability in ETMRs: A lethal brain tumor | Sin-Chan, Patrick; Mumal, Iqra; Suwal, Tannu; Ho, Ben; Fan, Xiaolian; Singh, Irtisha; Du, Yuchen; Lu, Mei; Patel, Neilket; Torchia, Jonathon; Popovski, Dean; Fouladi, Maryam; Guilhamon, Paul; Hansford, Jordan R.; Leary, Sarah; Hoffman, Lindsey M.; Levy, Jean M. Mulcahy; Lassaletta, Alvaro; Solano-Paez, Palma; Rivas Infante, Eloy; Reddy, Alyssa; Gillespie, G. Yancey; Gupta, Nalin; Van Meter, Timothy E.; Nakamura, Hideo; Wong, Tai-Tong; Ra, Young-Shin; Kim, Seung-Ki; Massimi, Luca; Grundy, Richard G.; Fangusaro, Jason; Johnston, Donna; Chan, Jennifer; Lafay-Cousin, Lucie; Hwang, Eugene I.; Wang, Yin; Catchpoole, Daniel; Michaud, Jean; Ellezam, Benjamin; Ramanujachar, Ramya; Lindsay, Holly; Taylor, Michael D.; Hawkins, Cynthia; Bouffet, Eric; Jabado, Nada; Singh, Sheila K.; Kleinman, Claudia L.; Barsyte-Lovejoy, Dalia; Li, Xiao-Nan; Dirks, Peter B.; Lin, Charles Y.; Mack, Stephen C.; Rich, Jeremy N.; Huang, Annie | artículo |
| closedAccess |  | 1-Apr-2023 | A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism | Dofash, Lein N. H.; Monahan, Gavin V.; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L.; Davis, Mark R.; Beilharz, Traude; Laing, Nigel G.; Cabrera-Serrano, Macarena CSIC ORCID; Ravenscroft, Gianina | artículo |
| openAccess |  | 10-Aug-2022 | A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism | Dofash, Lein N. H.; Monahan, Gavin V.; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L.; Davis, Mark R.; Beilharz, Traude; Laing, Nigel G.; Cabrera-Serrano, Macarena CSIC ORCID; Ravenscroft, Gianina | preprint |
| openAccess |  | 1-Mar-2019 | Altered myogenesis and premature senescence underlie human TRIM32-related myopathy | Servián Morilla, E. CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID; Rivas Infante, Eloy; Carvajal, A.; Lamont, P. J.; Pelayo-Negro, Ana L.; Ravenscroft, Gianina; Junckerstorff, R.; Dyke, J. M.; Fletcher, S.; Adams, A. M.; Mavillard, Fabiola CSIC ORCID; Fernández-García, M. A.; Nieto-González, J. CSIC ORCID; Laing, Nigel G.; Paradas, Carmen CSIC ORCID | artículo |
| closedAccess |  | Aug-2022 | BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients | Carrasco-Rozas, Ana; Fernández-Simón, Esther; Suárez-Calvet, Xavier; Piñol-Jurado, Patricia; Alonso-Pérez, Jorge; Luna, Noemí de; Schoser, Benedikt; Meinke, Peter; Domínguez-Gonzalez, Cristina; Hernández-Laín, Aurelio; Paradas, Carmen CSIC ORCID; Rivas Infante, Eloy; Illa, Isabel; Olivé, Montse; Gallardo, Eduard; Díaz-Manera, Jordi | artículo |
| closedAccess |  | Jul-2013 | Estudio de expresión de marcadores de células madre neurales en neuroblastoma y correlación con factores pronóstico | Martínez-Criado, Y.; Cabello, Rosa; Fernández-Pineda, I.; Márquez, Catalina; Ramírez, Gema; Rivas Infante, Eloy; Robles-Frías, María José CSIC; Pardal Redondo, Ricardo CSIC ORCID; Vega, Francisco M. CSIC ORCID | artículo |
| closedAccess |  | 2011 | Hemimegalencephaly: Prenatal diagnosis and outcome | Álvarez, R.M.; García-Díaz, Lutgardo CSIC ORCID CVN; Márquez, J.; Fajardo, M.; Rivas Infante, Eloy; García-Lozano, J. C.; Antiñolo, Guillermo CSIC ORCID | artículo |
| closedAccess |  | Feb-2021 | Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families | González-Mera, Laura; Ravenscroft, Gianina; Cabrera-Serrano, Macarena CSIC ORCID; Ermolova, N.; Domínguez-Gonzalez, Cristina; Arteche-López, A.; Soltanzadeh, P.; Evesson, F.; Navas, C.; Mavillard, Fabiola CSIC ORCID; Clayton, J.; Rodrigo, P.; Servián Morilla, E. CSIC ORCID; Cooper, S. T.; Waddell, L.; Reardon, K.; Corbett, A.; Hernández-Laín, Aurelio; Sánchez, A.; Esteban Pérez, J.; Paradas, Carmen CSIC ORCID; Rivas Infante, Eloy; Spencer, M.; Laing, Nigel G.; Olivé, Montse | artículo |
| openAccess |  | 2020 | Identification of VRK1 as a New Neuroblastoma Tumor Progression Marker Regulating Cell Proliferation | Colmenero-Repiso, Ana CSIC; Gómez-Muñoz, María A. CSIC ORCID; Rodríguez-Prieto, Ismael CSIC; Amador-Álvarez, Aida CSIC ORCID; Henrich, Kai-Oliver; Pascual Vaca, Diego; Okonechnikov, Konstantin; Rivas Infante, Eloy; Westermann, Frank; Pardal Redondo, Ricardo CSIC ORCID; Vega, Francisco M. CSIC ORCID | artículo |
| openAccess |  | 6-May-2020 | Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice | López-Escobar, Beatriz; Fernández-Torres, Rut; Vargas-López, Viviana; Villar-Navarro, Mercedes; Rybkina, Tatyana; Rivas Infante, Eloy; Hernández-Viñas, Ayleen; Álvarez del Vayo Benito, Concepción CSIC; Carrión, M. Ángel; Ybot, Patricia CSIC ORCID | artículo |
| openAccess | | 2-Feb-2023 | Lessons learned from a sporadic FUSopathy in a young man: a case report | García-Roldán, Ernesto; Rivas Infante, Eloy; Medina-Rodríguez, Manuel CSIC ORCID; Arriola-Infante, José Enrique; Rodrigo-Herrero, Silvia; Paradas, Carmen CSIC ORCID; Rábano, Alberto; Franco-Macías, Emilio CSIC ORCID | artículo |
| openAccess |  | 23-May-2013 | Method for obtaining useful information for the diagnosis of neuromuscular diseases | Escudero, Luis M. CSIC ORCID; Montero-Sánchez, Adoración CSIC; Paradas, Carmen CSIC ORCID; Rivas Infante, Eloy; Pascual Bravo, Alberto CSIC ORCID ; Sáez, Aurora; Serrano Gotarredona, Carmen; Acha Piñero, Begoña | solicitud de patente |
| openAccess |  | 23-May-2013 | Method for obtaining useful information for the diagnosis of neuromuscular diseases | Escudero, Luis M. CSIC ORCID; Montero-Sánchez, Adoración CSIC; Paradas, Carmen CSIC ORCID; Rivas Infante, Eloy; Pascual Bravo, Alberto CSIC ORCID ; Sáez, Aurora; Serrano Gotarredona, Carmen; Acha Piñero, Begoña | solicitud de patente |
| openAccess |  | 18-Jun-2013 | Método para obtener información útil para el diagnóstico de enfermedades neuromusculares | Escudero, Luis M. CSIC ORCID; Montero-Sánchez, Adoración CSIC; Paradas, Carmen CSIC ORCID; Rivas Infante, Eloy; Pascual Bravo, Alberto CSIC ORCID ; Sáez, Aurora; Serrano Gotarredona, Carmen; Acha Piñero, Begoña | patente |
| openAccess |  | 18-Jun-2013 | Método para obtener información útil para el diagnóstico de enfermedades neuromusculares | Escudero, Luis M. CSIC ORCID; Montero-Sánchez, Adoración CSIC; Paradas, Carmen CSIC ORCID; Rivas Infante, Eloy; Pascual Bravo, Alberto CSIC ORCID ; Sáez, Aurora; Serrano Gotarredona, Carmen; Acha Piñero, Begoña | solicitud de patente |
| openAccess |  | 21-Sep-2017 | Neural crest derived progenitor cells contribute to tumor stroma and aggressiveness in stage 4/M neuroblastoma | Linares-Clemente, P.; Aguilar Morante, Diana CSIC ORCID; Rodríguez-Prieto, Ismael CSIC; Ramírez, Gema; Torres, Carmen de; Santamaría, Vicente; Pascual Vaca, Diego; Colmenero-Repiso, Ana CSIC; Vega, Francisco M. CSIC ORCID; Mora, Jaume; Cabello, Rosa; Márquez-Vega, Catalina; Rivas Infante, Eloy; Pardal Redondo, Ricardo CSIC ORCID | artículo |
| closedAccess |  | Jul-2021 | Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy | Mavillard, Fabiola CSIC ORCID; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Paradas, Carmen CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID | artículo |
| openAccess |  | 2019 | NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay | Mavillard, Fabiola CSIC ORCID; Madruga, Marcos CSIC; Rivas Infante, Eloy; Servián Morilla, E. CSIC ORCID; Ávila Polo, Rainiero CSIC; Marcos Luque, Irene CSIC; Morón, Francisco J. CSIC ORCID CVN; Paradas, Carmen CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID | artículo |
| closedAccess |  | Mar-2020 | POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern | Servián Morilla, E. CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID; Johnson, K.; Pandey, A.; Ito, A.; Rivas Infante, Eloy; Chamova, T.; Muelas, Nuria; Mongini, T.; Nafissi, S.; Claeys, Kristl G.; Grewal, R. P.; Takeuchi, M.; Hao, H.; Bönnemann, C.; Lopes Abath Neto, O.; Medne, L.; Brandsema, J.; Töpf, A.; Taneva, A.; Vilchez, J. J.; Tournev, I.; Haltiwanger, R. S.; Takeuchi, H.; Jafar-Nejad, H.; Straub, Volker; Paradas, Carmen CSIC ORCID | artículo |
| openAccess |  | 20-Mar-2013 | Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis | Sáez, Aurora; Rivas Infante, Eloy; Montero-Sánchez, Adoración CSIC; Paradas, Carmen CSIC ORCID; Acha Piñero, Begoña; Pascual Bravo, Alberto CSIC ORCID ; Serrano Gotarredona, Carmen; Escudero, Luis M. CSIC ORCID | artículo |
