Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Monica Diez-Fairen"'
Autor:
Pablo García-González, Itziar de Rojas, Sonia Moreno-Grau, Laura Montrreal, Raquel Puerta, Emilio Alarcón-Martín, Inés Quintela, Adela Orellana, Victor Andrade, Pamela V. Martino Adami, Stefanie Heilmann-Heimbach, Pilar Gomez-Garre, María Teresa Periñán, Ignacio Alvarez, Monica Diez-Fairen, Raul Nuñez Llaves, Claudia Olivé Roig, Guillermo Garcia-Ribas, Manuel Menéndez-González, Carmen Martínez, Miquel Aguilar, Mariateresa Buongiorno, Emilio Franco-Macías, Maria Eugenia Saez, Amanda Cano, Maria J. Bullido, Luis Miguel Real, Eloy Rodríguez-Rodríguez, Jose Luís Royo, Victoria Álvarez, Pau Pastor, Gerard Piñol-Ripoll, Pablo Mir, Miguel Calero Lara, Miguel Medina Padilla, Pascual Sánchez-Juan, Angel Carracedo, Sergi Valero, Isabel Hernandez, Lluis Tàrraga, Alfredo Ramirez, Mercé Boada, Agustín Ruiz
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 898 (2023)
Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with Alzheimer’s disease (AD). However, mLOY estimation from genotype microarray data only reflects the mLOY degree of subjects at the mo
Externí odkaz:
https://doaj.org/article/c8c4eaad08a8470cafc3738e4c60364f
Autor:
Laura Ibanez, Jorge A. Bahena, Chengran Yang, Umber Dube, Fabiana H. G. Farias, John P. Budde, Kristy Bergmann, Carol Brenner-Webster, John C. Morris, Richard J. Perrin, Nigel J. Cairns, John O’Donnell, Ignacio Álvarez, Monica Diez-Fairen, Miquel Aguilar, Rebecca Miller, Albert A. Davis, Pau Pastor, Paul Kotzbauer, Meghan C. Campbell, Joel S. Perlmutter, Herve Rhinn, Oscar Harari, Carlos Cruchaga, Bruno A. Benitez
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
Abstract Alpha-synuclein is the main protein component of Lewy bodies, the pathological hallmark of Parkinson’s disease. However, genetic modifiers of cerebrospinal fluid (CSF) alpha-synuclein levels remain unknown. The use of CSF levels of amyloid
Externí odkaz:
https://doaj.org/article/2077762f363c437892ba2473c6937bd7
Autor:
Rita Guerreiro, Valentina Escott-Price, Dena G. Hernandez, Celia Kun-Rodrigues, Owen A. Ross, Tatiana Orme, Joao Luis Neto, Susana Carmona, Nadia Dehghani, John D. Eicher, Claire Shepherd, Laura Parkkinen, Lee Darwent, Michael G. Heckman, Sonja W. Scholz, Juan C. Troncoso, Olga Pletnikova, Ted Dawson, Liana Rosenthal, Olaf Ansorge, Jordi Clarimon, Alberto Lleo, Estrella Morenas-Rodriguez, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Monica Diez-Fairen, Miquel Aguilar, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda M. Halliday, John Hardy, John Q. Trojanowski, Dennis W. Dickson, Andrew Singleton, David J. Stone, Jose Bras
Publikováno v:
Neurobiology of Disease, Vol 127, Iss , Pp 492-501 (2019)
Recent large-scale genetic studies have allowed for the first glimpse of the effects of common genetic variability in dementia with Lewy bodies (DLB), identifying risk variants with appreciable effect sizes. However, it is currently well established
Externí odkaz:
https://doaj.org/article/8a8a606f7f4c49d690647ef64ba97f82
Publikováno v:
Neurobiology of Disease, Vol 137, Iss , Pp 104782- (2020)
ABSTRACT: A substantial proportion of risk for Parkinson's disease (PD) is driven by genetics. Progress in understanding the genetic basis of PD has been significant. So far, highly-penetrant rare genetic alterations in SNCA, LRRK2, VPS35, PRKN, PINK
Externí odkaz:
https://doaj.org/article/3b60f047456b44f781a3f9660c916131
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 15, p 8100 (2021)
In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes. Several disease-causing mutations an
Externí odkaz:
https://doaj.org/article/c3ffd2f81dfb4a778ce1e48340fbbddf
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 19, p 7332 (2020)
Parkinson’s disease (PD) is a complex disorder underpinned by both environmental and genetic factors. The latter only began to be understood around two decades ago, but since then great inroads have rapidly been made into deconvoluting the genetic
Externí odkaz:
https://doaj.org/article/5bc9616bc3ce4a68ab3dab964eadac42
Autor:
Laia Lidón, Laura Urrea, Franc Llorens, Vanessa Gil, Ignacio Alvarez, Monica Diez-Fairen, Miguel Aguilar, Pau Pastor, Inga Zerr, Daniel Alcolea, Alberto Lleó, Enric Vidal, Rosalina Gavín, Isidre Ferrer, Jose Antonio Del Rio
Publikováno v:
Cells, Vol 9, Iss 5, p 1252 (2020)
Reelin is an extracellular glycoprotein that modulates neuronal function and synaptic plasticity in the adult brain. Decreased levels of Reelin activity have been postulated as a key factor during neurodegeneration in Alzheimer’s disease (AD) and i
Externí odkaz:
https://doaj.org/article/f1cc810480224948ae90f211bd73ce37
Autor:
Laura Ibanez, Umber Dube, Albert A. Davis, Maria V. Fernandez, John Budde, Breanna Cooper, Monica Diez-Fairen, Sara Ortega-Cubero, Pau Pastor, Joel S. Perlmutter, Carlos Cruchaga, Bruno A. Benitez
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
Background: The prevalence of dementia in Parkinson disease (PD) increases dramatically with advancing age, approaching 80% in patients who survive 20 years with the disease. Increasing evidence suggests clinical, pathological and genetic overlap bet
Externí odkaz:
https://doaj.org/article/38ad410771764cc98017f4fcc283ee0f
Autor:
Irene Rosas, Germán Morís, Eliecer Coto, Marta Blázquez-Estrada, Esther Suárez, Ciara García-Fernández, Carmen Martínez, Israel Duarte Herrera, Sergio Pérez-Oliveira, Victoria Álvarez, Manuel Menéndez-González, Astrid D. Adarmes-Gómez, Miquel Aguilar, Ignacio Alvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Marta Bonilla-Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza-Rueda, Ana Cámara, Fátima Carrillo, Debora Cerdan, Jordi Clarimón, Yaroslau Compta, Monica Diez-Fairen, Oriol Dols-Icardo, Oriol de Fabregues, Pilar Sanz Cartagena, Jacinto Duarte, Raquel Duran, Francisco Escamilla-Sevilla, Mario Ezquerra, Cici Feliz, Rubén Fernández-Santiago, Manel Fernández, Pedro García-Ruiz, Pilar Gómez-Garre, Maria Jose Gomez Heredia, Isabel Gonzalez-Aramburu, Ana Gorostidi, Janet Hoenicka, Jon Infante, Silvia Jesús, Adriano Jimenez-Escrig, Jaime Kulisevsky, Miguel A. Labrador-Espinosa, Jose Luis Lopez-Sendon, Adolfo López de Munain, Daniel Macias-Garcia, Irene Martínez-Torres, Juan Marín, Maria Jose Marti, Juan Carlos Martínez-Castrillo, Marina Mata Álvarez-Santullano, Adolfo Mínguez-Castellanos, Pablo Mir, Elisabet Mondragon Rezola, Esteban Muñoz, Javier Pagonabarraga, Pau Pastor, Francisco Perez Errazquin, Maria Teresa Periñán, Javier Ruiz-Martínez, Clara Ruz, Antonio Sanchez Rodriguez, María Sierra, Cesar Tabernero, Juan Pablo Tartari, Eduard Tolosa, Francesc Valldeoriola, Lydia Vela, Francisco Vives, Berta Pascual-Sedano, Jorge Hernández-Vara, Dolores Vilas Rolán, Sara Bandrés-Ciga
Publikováno v:
Parkinsonism & Related Disorders. 97:79-83
[Background] Previous studies linked disease-progression variables such as age at onset or survival to both genetic, and non-genetic factors in Parkinson's disease (PD) patients.
[Objective] The aim of this study was to assess how genetic and no
[Objective] The aim of this study was to assess how genetic and no
Autor:
Athina Simitsi, Grazia Annesi, Hirotaka Matsuo, Leonor Correia Guedes, Mario Ezquerra, Kenya Nishioka, Ashwin Ashok Kumar Sreelatha, Simona Petrucci, Dimitri Krainc, Angela Deutschländer, Ekaterina Rogaeva, Lasse Pihlstrøm, Manu Sharma, Thomas Gasser, Mathias Toft, Jan O. Aasly, Cloé Domenighetti, Monica Diez-Fairen, Milena Radivojkov-Blagojevic, Sandeep Grover, Andrew B. Singleton, Bart P.C. van de Warrenburg, Yun Joong Kim, Andrea Quattrone, Sun Ju Chung, Gianni Pezzoli, Pierre-Emmanuel Sugier, Sulev Kõks, Lena F. Burbulla, Jonathan Carr, Walter Pirker, Efthimos Dardiotis, Karin Wirdefeldt, George D. Mellick, Jean-Christophe Corvol, Dheeraj Reddy Bobbili, Anthony E. Lang, Eugénie Mutez, Georges M. Hadjigeorgiou, Anna Zecchinelli, Laura Brighina, Connor Edsall, Océane Mohamed, Berta Portugal, Andreas Puschmann, Nancy L. Pedersen, Alexander Zimprich, Patrick May, Matthew J. Farrer, Leonidas Stefanis, Yusuke Kawamura, Eduardo Tolosa, Claudia Schulte, Alexis Brice, Caroline Ran, Manuela Tan, Pille Taba, Peter Lichtner, Alexis Elbaz, Dena G. Hernandez, Monica Gagliardi, Andrea Carmine Belin, Joaquim J. Ferreira, Suzanne Lesage, Pierre Kolber, Kathrin Brockmann, Marie-Christine Chartier-Harlin, Carl E Clarke, Karen E. Morrison, Nobutaka Hattori, Stefano Duga, Letizia Straniero, Rejko Krüger, Carlo Ferrarese, Pau Pastor, Soraya Bardien, Clara Hellberg, Bastiaan R. Bloem, Enza Maria Valente
Publikováno v:
J Parkinsons Dis
Journal of Parkinson's Disease, 12, 267-282
Journal of Parkinson's Disease, 12, 1, pp. 267-282
Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (COURAGE-PD) consortium 2021, ' Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease ', Journal of Parkinson's disease . https://doi.org/10.3233/JPD-212851
Journal of Parkinson's Disease 12(1), 267-282 (2022). doi:10.3233/JPD-212851
Journal of Parkinson's disease
12 (2022): 267–282. doi:10.3233/JPD-212851
info:cnr-pdr/source/autori:Cloé Domenighetti; Pierre-Emmanuel Sugier; Ashwin Ashok Kumar Sreelatha; Claudia Schulte; Sandeep Grover; Océane Mohamed; Berta Portugal; Patrick May; Dheeraj R Bobbili; Milena Radivojkov-Blagojevic; Peter Lichtner; Andrew B Singleto; Dena G Hernandez; Connor Edsall; George D Mellick; Alexander Zimprich; Walter Pirker; Ekaterina Rogaeva; Anthony E Lang; Sulev Koks; Pille Taba; Suzanne Lesage; Alexis Brice; Jean-Christophe Corvol; Marie-Christine Chartier-Harlin; Eugénie Mutez; Kathrin Brockmann; Angela B Deutschländer; Georges M Hadjigeorgiou; Efthimos Dardiotis; Leonidas Stefanis; Athina Maria Simitsi; Enza Maria Valente; Simona Petrucci; Stefano Duga; Letizia Straniero; Anna Zecchinelli; Gianni Pezzoli; Laura Brighina; Carlo Ferrarese; Grazia Annesi; Andrea Quattrone; Monica Gagliardi; Hirotaka Matsuo; Yusuke Kawamura; Nobutaka Hattori; Kenya Nishioka; Sun Ju Chung; Yun Joong Kim; Pierre Kolber; Bart Pc van de Warrenburg; Bastiaan R Bloem; Jan Aasly; Mathias Toft; Lasse Pihlstrøm; Leonor Correia Guedes; Joaquim J Ferreira; Soraya Bardien; Jonathan Carr: Eduardo Tolosa; Mario Ezquerra; Pau Pastor; Monica Diez-Fairen; Karin Wirdefeldt; Nancy L Pedersen; Caroline Ran; Andrea C Belin; Andreas Puschmann; Clara Hellberg; Carl E Clarke; Karen E Morrison; Manuela Tan; Dimitri Krainc; Lena F Burbulla; Matt J Farrer; Rejko Krüger; Thomas Gasser; Manu Sharma; Alexis Elbaz; Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (Courage-PD) consortium./titolo:Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease/doi:10.3233%2FJPD-212851/rivista:Journal of Parkinson's disease (Print)/anno:2022/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:12
Journal of Parkinson's Disease, 12, 267-282
Journal of Parkinson's Disease, 12, 1, pp. 267-282
Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (COURAGE-PD) consortium 2021, ' Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease ', Journal of Parkinson's disease . https://doi.org/10.3233/JPD-212851
Journal of Parkinson's Disease 12(1), 267-282 (2022). doi:10.3233/JPD-212851
Journal of Parkinson's disease
12 (2022): 267–282. doi:10.3233/JPD-212851
info:cnr-pdr/source/autori:Cloé Domenighetti; Pierre-Emmanuel Sugier; Ashwin Ashok Kumar Sreelatha; Claudia Schulte; Sandeep Grover; Océane Mohamed; Berta Portugal; Patrick May; Dheeraj R Bobbili; Milena Radivojkov-Blagojevic; Peter Lichtner; Andrew B Singleto; Dena G Hernandez; Connor Edsall; George D Mellick; Alexander Zimprich; Walter Pirker; Ekaterina Rogaeva; Anthony E Lang; Sulev Koks; Pille Taba; Suzanne Lesage; Alexis Brice; Jean-Christophe Corvol; Marie-Christine Chartier-Harlin; Eugénie Mutez; Kathrin Brockmann; Angela B Deutschländer; Georges M Hadjigeorgiou; Efthimos Dardiotis; Leonidas Stefanis; Athina Maria Simitsi; Enza Maria Valente; Simona Petrucci; Stefano Duga; Letizia Straniero; Anna Zecchinelli; Gianni Pezzoli; Laura Brighina; Carlo Ferrarese; Grazia Annesi; Andrea Quattrone; Monica Gagliardi; Hirotaka Matsuo; Yusuke Kawamura; Nobutaka Hattori; Kenya Nishioka; Sun Ju Chung; Yun Joong Kim; Pierre Kolber; Bart Pc van de Warrenburg; Bastiaan R Bloem; Jan Aasly; Mathias Toft; Lasse Pihlstrøm; Leonor Correia Guedes; Joaquim J Ferreira; Soraya Bardien; Jonathan Carr: Eduardo Tolosa; Mario Ezquerra; Pau Pastor; Monica Diez-Fairen; Karin Wirdefeldt; Nancy L Pedersen; Caroline Ran; Andrea C Belin; Andreas Puschmann; Clara Hellberg; Carl E Clarke; Karen E Morrison; Manuela Tan; Dimitri Krainc; Lena F Burbulla; Matt J Farrer; Rejko Krüger; Thomas Gasser; Manu Sharma; Alexis Elbaz; Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (Courage-PD) consortium./titolo:Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease/doi:10.3233%2FJPD-212851/rivista:Journal of Parkinson's disease (Print)/anno:2022/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:12
Contains fulltext : 248871.pdf (Publisher’s version ) (Open Access) BACKGROUND: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD