Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Elisabet, Mondragón Rezola"'
Autor:
Ana Vinagre-Aragón, David Campo-Caballero, Elisabet Mondragón-Rezola, Lara Pardina-Vilella, Haizea Hernandez Eguiazu, Ana Gorostidi, Ioana Croitoru, Alberto Bergareche, Javier Ruiz-Martinez
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Parkinson's disease (PD) is characterized by a great clinical heterogeneity. Nevertheless, the biological drivers of this heterogeneity have not been completely elucidated and are likely to be complex, arising from interactions between genetic, epige
Externí odkaz:
https://doaj.org/article/099c309d09434779b9d4b0e5284ae56d
Autor:
Araceli Alonso-Canovas, Monica M Kurtis, Victor Gomez-Mayordomo, Daniel Macías-García, Álvaro Gutiérrez Viedma, Elisabet Mondragón Rezola, Javier Pagonabarraga, Lidia Aranzabal Orgaz, Jaime Masjuan, Juan Carlos Martinez-Castrillo, Isabel Pareés
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. :jnnp-2022
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00ff26f0087d147368bafb8d0a019654
https://doi.org/10.1136/jnnp-2022-330885
https://doi.org/10.1136/jnnp-2022-330885
Autor:
Teresa Ximelis, Eduardo Tolosa, Leticia Pérez Sisqués, Jonas Düring, Raja Sekhar Nirujogi, Francesc Valldeoriola, Alicia Garrido, Ioana Croitoru, Laura Molina Porcel, Alberto Bergareche-Yarza, Dario R. Alessi, Esther Sammler, Ying Fan, Neringa Pratuseviciute, Roy N. Alcalay, Cristina Malagelada, Ana Gorostidi Pagola, Sara Gomes, María José Martí, Laura Paternain Markinez, Javier Ruiz-Martínez, Elisabet Mondragón-Rezola, Ana Vinagre-Aragón, Richard A. Hickman, Shalini Padmanabhan
Publikováno v:
Acta Neuropathologica
Heterozygous gain-of-kinase function variants in LRRK2 (leucine-rich repeat kinase 2) cause 1–2% of all cases of Parkinson’s disease (PD) albeit with incomplete and age-dependent penetrance. All pathogenic LRRK2 mutations reside within the two ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e18b8a16950f159c1167b789f7006b3d
https://doi.org/10.1007/s00401-021-02325-z
https://doi.org/10.1007/s00401-021-02325-z
Autor:
Agatha, Schlüter, Agustí, Rodríguez-Palmero, Edgard, Verdura, Valentina, Vélez-Santamaría, Montserrat, Ruiz, Stéphane, Fourcade, Laura, Planas-Serra, Juan José, Martínez, Cristina, Guilera, Marisa, Girós, Rafael, Artuch, María Eugenia, Yoldi, Mar, O'Callaghan, Angels, García-Cazorla, Judith, Armstrong, Itxaso, Marti, Elisabet, Mondragón Rezola, Claire, Redin, Jean Louis, Mandel, David, Conejo, Concepción, Sierra-Córcoles, Sergi, Beltrán, Marta, Gut, Elida, Vázquez, Mireia, Del Toro, Mónica, Troncoso, Luis A, Pérez-Jurado, Luis G, Gutiérrez-Solana, Adolfo, López de Munain, Carlos, Casasnovas, Sergio, Aguilera-Albesa, Alfons, Macaya, Aurora, Pujol, Juan Francisco, V Azquez
Publikováno v:
Neurology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Background and ObjectivesGenetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a37b98336a0ef5fb99de2cc583fce53
https://pubmed.ncbi.nlm.nih.gov/35012964
https://pubmed.ncbi.nlm.nih.gov/35012964
Autor:
Ioana Croitoru, Francesc Valldeoriola, Shalini Padmanabhana, Ana Vinagre Aragón, María José Martí, Jonas Duering, Raja Sekhar Nirujogi, Javier Ruiz Martínez, Roy N. Alcalay, Neringa Pratuseviciute, Laura Paternain Markinez, Eduardo Tolosa, Ana Gorostidi Pagola, Richard A. Hickman, Alicia Garrido, Ying Fan, Alberto Bergareche-Yarza, Dario R. Alessi, Elisabet Mondragón Rezola, Esther Sammler
Gain-of kinase function variants in LRRK2 (leucine-rich repeat kinase 2) cause Parkinson’s disease (PD), albeit with incomplete and age-dependent penetrance, offering the prospect of disease-modifying treatment strategies via LRRK2 kinase inhibitio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c676ec2ed06a0a6d283889388f41302
https://doi.org/10.1101/2021.01.28.21249614
https://doi.org/10.1101/2021.01.28.21249614
Autor:
Elisabet Mondragón Rezola, Patricia de la Riva, Javier Ruiz-Martínez, Ainara Estanga, Cristina Sarasqueta, Belén Gago, José Félix Martí Massó, Nerea Larrañaga, Alberto Bergareche, Maria C. Rodriguez-Oroz, Ana Gorostidi, Adolfo López de Munain
Publikováno v:
Movement Disorders. 29:750-755
An inverse relationship between Parkinson's disease (PD) and cancer has been described. However, the association between cancers and genetic forms of PD, in particular the R1441G mutation in the LRRK2 gene, is not well known. The objective of this wo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e047051a3c688c4597a7dca065dc80c
https://doi.org/10.1002/mds.25778
https://doi.org/10.1002/mds.25778
Autor:
Maria Teresa Martínez-Zabaleta, Jose Felix Marti-Masso, Elisabet Mondragón-Rezola, Maialen Arruti González, Nicolás Samprón, Edurne Pardo, Jose Ángel Larrea, Patricia de la Riva
Publikováno v:
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association. 25(3)
A 30-year-old woman suffered from acute vertebrobasilar stroke. Cranial tomography (CT) scans showed multiple vertebral abnormalities suggestive of congenital spine malformation, and angiographic CT revealed aneurysmal dilatations (ADs) at segment V2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f9ca79b5646e60bbee00dad09041956
https://pubmed.ncbi.nlm.nih.gov/26679068
https://pubmed.ncbi.nlm.nih.gov/26679068
Autor:
Javier, Ruiz-Martínez, Patricia, de la Riva, Maria C, Rodríguez-Oroz, Elisabet, Mondragón Rezola, Alberto, Bergareche, Ana, Gorostidi, Belen, Gago, Ainara, Estanga, Nerea, Larrañaga, Cristina, Sarasqueta, Adolfo, López de Munain, José F, Martí Massó
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 29(6)
An inverse relationship between Parkinson's disease (PD) and cancer has been described. However, the association between cancers and genetic forms of PD, in particular the R1441G mutation in the LRRK2 gene, is not well known. The objective of this wo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95c32cc9b578997d5ebe182e39a4d655
https://pubmed.ncbi.nlm.nih.gov/24357540
https://pubmed.ncbi.nlm.nih.gov/24357540
Autor:
Martínez-Zabaleta Mt, Gonzalo-Yubero N, Jose Felix Marti-Masso, Díez-González N, Tainta-Cuezva M, Elisabet Mondragón-Rezola, de la Riva P, Arruti M
Publikováno v:
Revista de Neurología. 56:252
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c336d88acdfc1ea0c2a407009bde438a
https://doi.org/10.33588/rn.5604.2012435
https://doi.org/10.33588/rn.5604.2012435
Autor:
Javier Ruiz-Martínez, Izaskun Arratíbel-Echarren, Elisabet Mondragón-Rezola, Jose Felix Marti-Masso
Publikováno v:
Revista de Neurología. 50:21
Introduccion. Los trastornos del sueno ocurren en el 60-98% de los pacientes con enfermedad de Parkinson, alterando de forma importante su calidad de vida. Objetivos. Analizar la fisiopatologia de estos trastornos y los aspectos que pueden ayudar en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86c834bb3e733f6a2e50cabd6e566517
https://doi.org/10.33588/rn.50s02.2009735
https://doi.org/10.33588/rn.50s02.2009735