Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Jordi Muchart"'
Autor:
Margarida Simão-Rafael, Ofelia Cruz, Sara Perez-Jaume, Vicente Santa-María Lopez, Cinzia Lavarino, Hector Salvador, Jordi Muchart López, Jose Hinojosa, Mariona Suñol, Andrés Morales La Madrid
Publikováno v:
EJC Paediatric Oncology, Vol 2, Iss , Pp 100115- (2023)
Purpose: Pediatric low-grade gliomas (PLGG) have an excellent overall survival, but frequently need non-surgical therapy at diagnosis or after progression when located in unresectable sites such as the optic pathway. Chemotherapy side effects have le
Externí odkaz:
https://doaj.org/article/f2d57bd5b71144dd9db7415e54187a25
Autor:
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 18, p 13699 (2023)
The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in PPP2R1A have been associated with syndromic intellectual disability and a consistent, but still expanding, phenotype. The PPP2R1A gene encodes a
Externí odkaz:
https://doaj.org/article/1b68797967244e898233e77e9a3e3098
Autor:
Micheal Anka Tugbiyele, Santiago Candela-Cantó, Mariana Alamar Abril, Diego Culebras Palao, Victoria Becerra Castro, Alia Ramírez, Jordi Muchart, Javier Aparicio, Jordi Rumià Arboix, José Hinojosa Mena-Bernal
Publikováno v:
Brain and Spine, Vol 3, Iss , Pp 102271- (2023)
Externí odkaz:
https://doaj.org/article/cf9d21cd96b14d16ace770df3abe5ae2
Autor:
Victoria Becerra, José Hinojosa, Santiago Candela, Diego Culebras, Mariana Alamar, Georgina Armero, Gastón Echaniz, David Artés, Josep Munuera, Jordi Muchart
Publikováno v:
Frontiers in Oncology, Vol 12 (2023)
ObjectiveIn this study, we present our experience with 1.5-T high-field intraoperative magnetic resonance imaging (ioMRI) for different neuro-oncological procedures in a pediatric population, and we discuss the safety, utility, and challenges of this
Externí odkaz:
https://doaj.org/article/6bfb5dbd88e74424a7170c7abfa4f435
Autor:
Ofelia Cruz, Victoria Caloretti, Hector Salvador, Veronica Celis, Vicente Santa-Maria, Andrés Morales La Madrid, Mariona Suñol, Patricia Puerta, Jordi Muchart, Lucas Krauel, Cinzia Lavarino
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-6 (2021)
Abstract Background Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome characterized by the early-onset of multiple primary cancers which can occur at different moments (metachronous onset) or, more rarely, coincidentally (synchronous ons
Externí odkaz:
https://doaj.org/article/54037bb7960b484bbe0bbf65815d7dac
Autor:
Carlos Suso-Ribera, Azucena García-Palacios, Juan P Sanabria-Mazo, Ariadna Colomer-Carbonell, Francesco D'Amico, Michael Maes, Xavier Borràs, Albert Feliu-Soler, Juan V Luciano, Jordi Muchart, Josep Munuera, Halbert Hernández-Negrín, Jarred W Younger, Antoni Rozadilla-Sacanell
Publikováno v:
BMJ Open, Vol 12, Iss 1 (2022)
Externí odkaz:
https://doaj.org/article/db89b81ccbc44526922766291074ec36
Autor:
Magda Bosch de Basea, David Moriña, Jordi Figuerola, Ignasi Barber, Jordi Muchart, Choonsik Lee, Elisabeth Cardis
Publikováno v:
Environment International, Vol 120, Iss , Pp 1-10 (2018)
Background: CT scan is a life-saving medical diagnostic tool, entailing higher levels of ionising radiation exposure than conventional radiography, which may result in an increase in cancer risk, particularly in children. Information about the use an
Externí odkaz:
https://doaj.org/article/30c9c908039044478784bc01ab3f8015
Autor:
Antonio F. Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I. Ortez, Andrés Nascimento, Baldo Oliva, José M. Fernández-Fernández, Mercedes Serrano
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 10, p 5180 (2021)
The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms, paro
Externí odkaz:
https://doaj.org/article/557b2a1eecf64bdeb4c9274c77b0e7cf
Autor:
Eulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, Eduardo López-Laso, Rebeca Losada del Pozo, Luis González Gutiérrez-Solana, David Conejo Moreno, Concha Sierra-Córcoles, Naiara Olabarrieta-Hoyos, Marcos Madruga-Garrido, Javier Aguirre-Rodríguez, Verónica González-Álvarez, Mar O’Callaghan, Jordi Muchart, Judith Armstrong-Moron
Publikováno v:
Journal of Central Nervous System Disease, Vol 2014, Iss 6, Pp 59-68 (2014)
Externí odkaz:
https://doaj.org/article/7d82afabc4a44215a8fb849d52ef7c8b
Autor:
Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 2, p 619 (2018)
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 channel). The underlying path
Externí odkaz:
https://doaj.org/article/fe935ff1b154463da302ead9af2340dd