Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Sara Bandrés Ciga"'
Autor:
Clara Ruz, Francisco J. Barrero, Javier Pelegrina, Sara Bandrés-Ciga, Francisco Vives, Raquel Duran
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 12004 (2022)
Lysosomal dysfunction has been proposed as one of the most important pathogenic molecular mechanisms in Parkinson disease (PD). The most significant evidence lies in the GBA gene, which encodes for the lysosomal enzyme β-glucocerebrosidase (β-GCase
Externí odkaz:
https://doaj.org/article/f0f4193f472644debc72dc9f59ed1182
Publikováno v:
Neurobiology of Disease, Vol 124, Iss , Pp 230-239 (2019)
In the past two decades, mutations in multiple genes have been linked to autosomal dominant or recessive forms of monogenic Parkinson’s disease (PD). Collectively, these monogenic (often familial) cases account for less than 5% of all PD, the major
Externí odkaz:
https://doaj.org/article/68dfeed2dea04b30a3527f59d8ece6f6
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:
Caroline Warly Solsberg, Sara Bandrés Ciga, Hampton Leonard, Sonja Scholz, Mary Makarious, Julie Lake
Parkinson’s disease (PD) has a large heritable component and genome-wide association studies to date have identified over 90 variants associated with PD, providing deeper insights into the disease biology. However, there have not been large-scale r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50b0e9a656684fe2cf011ea46bad4505
https://doi.org/10.1101/2022.11.08.22280168
https://doi.org/10.1101/2022.11.08.22280168
Genome-wide association studies (GWAS) have increased our understanding of Parkinson’s disease (PD) genetics through the identification of common disease-associated variants. However, much of the heritability remains unaccounted for and we hypothes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06cfe86f36d4c5ca0c24252d66f73a69
https://doi.org/10.1101/2022.07.29.22278162
https://doi.org/10.1101/2022.07.29.22278162
Autor:
Sara Bandrés Ciga
Publikováno v:
Movement Disorders. 37:1559-1561
Autor:
Njideka Okubadejo, Olaitan Okunoye, Oluwadamilola Ojo, Babawale Arabambi, Rufus Akinyemi, Godwin Osaigbovo, Sani Abubakar, Emmanuel Iwuozo, Kolawole Wahab, Osigwe Agabi, Uchechi Agulanna, Frank Imarhiagbe, Oladunni Abiodun, Charles Achoru, Akintunde Adebowale, Olaleye Adeniji, John Akpekpe, Mohammed Alli, Ifeyinwa Ani-Osheku, Ohwotemu Arigbodi, Salisu Balarabe, Abiodun Bello, Oluchi Ekenze, Cyril Erameh, Temitope Farombi, Michael Fawale, Morenikeji Komolafe, Paul Nwani, Ernest Nwazor, Yakub Nyandaiti, Emmanuel Obehighe, Yahaya Obiabo, Olanike Odeniyi, Francis Odiase, Francis Ojini, Gerald Onwuegbuzie, Nosakhare Osemwegie, Olajumoke Oshinaike, Folajimi Otubogun, Shyngle Oyakhire, Funlola Taiwo, Uduak Williams, Simon Ozomma, Yusuf Zubair, David Curtis, Dena Hernandez, Sara Bandrés-Ciga, Cornelis Blauwendraat, Andrew Singleton, Henry Houlden, John Hardy, Mie Rizig
The relationship between APOE polymorphisms and Parkinson’s disease (PD) in black Africans has not been previously investigated. We evaluated the association between APOE polymorphic variability and cognition in 1100 Nigerians with PD and 1097 matc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a37d46069b30f28a536d0dbebaa2d26d
https://doi.org/10.21203/rs.3.rs-1753416/v1
https://doi.org/10.21203/rs.3.rs-1753416/v1
Autor:
Leonardo Collado-Torres, Oluwadamilola Ojo, Huw Morris, Andy Thomason, Isabel Gonzalez-Aramburu, Mie Rizig, Sara Bandrés Ciga, Patrick Lewis, María Teresa Periñán, Pau Pastor, Nicholas Wood, Kerrin Small, John Quinn, PAOLA FORABOSCO, Rubén Fernández-Santiago, Astrid Daniela Adarmes Gómez, Juan Carlos Martinez Castrillo, Sonja Scholz, Victoria Alvarez, Niccolò Emanuele Mencacci, Michael Weale, Thomas Gasser, Kari Majamaa, Adolfo Mínguez-Castellanos, Jose Bras, J. Raphael Gibbs, Monica Diez-Fairen, Ruth Lovering, Jon Infante, Juan A. Botía, Rita Guerreiro, John Hardy, Mario Ezquerra, Valentina Escott-Price, Arianna Tucci, Kin Ying Mok, Kerri J Kinghorn, Manuel Menéndez González, Janet Hoenicka, Njideka Okubadejo, Regina Reynolds, Alexis Brice, Ignacio Alvarez, Adaikalavan Ramasamy, Pille Taba, David Zhang, Lydia Vela-Desojo
Publikováno v:
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Guelfi, S, D’sa, K, Botía, J A, Vandrovcova, J, Reynolds, R H, Zhang, D, Trabzuni, D, Collado-torres, L, Thomason, A, Quijada Leyton, P, Gagliano Taliun, S A, Nalls, M A, Small, K S, Smith, C, Ramasamy, A, Hardy, J, Weale, M E & Ryten, M 2020, ' Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information ', Nature Communications, vol. 11, no. 1 . https://doi.org/10.1038/s41467-020-14483-x
Nature communications, vol 11, iss 1
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communications 11, 1041 (2020).
UCrea Repositorio Abierto de la Universidad de Cantabria
Nature communications
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Guelfi, S, D’sa, K, Botía, J A, Vandrovcova, J, Reynolds, R H, Zhang, D, Trabzuni, D, Collado-torres, L, Thomason, A, Quijada Leyton, P, Gagliano Taliun, S A, Nalls, M A, Small, K S, Smith, C, Ramasamy, A, Hardy, J, Weale, M E & Ryten, M 2020, ' Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information ', Nature Communications, vol. 11, no. 1 . https://doi.org/10.1038/s41467-020-14483-x
Nature communications, vol 11, iss 1
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communications 11, 1041 (2020).
UCrea Repositorio Abierto de la Universidad de Cantabria
Nature communications
International Parkinson’s Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC).
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric
Autor:
Sebastian Schreglmann, Isabel Gonzalez-Aramburu, Mie Rizig, Sara Bandrés Ciga, María Teresa Periñán, Pau Pastor, Rubén Fernández-Santiago, Juan Carlos Martinez Castrillo, Sonja Scholz, Thomas Gasser, Adolfo Mínguez-Castellanos, Jose Bras, J. Raphael Gibbs, Monica Diez-Fairen, Jon Infante, Oriol Dols Icardo, Hirotaka Iwaki, Juan A. Botía, Rita Guerreiro, Valentina Escott-Price, Kerri J Kinghorn, Manuel Menéndez González, Alexis Brice, Ignacio Alvarez, Pille Taba
Publikováno v:
Mov Disord
BackgroundWhile the LRRK2 p.G2019S mutation has been demonstrated to be a strong risk factor for Parkinson’s Disease (PD), factors that contribute to penetrance among carriers, other than aging, have not been well identified.ObjectivesTo evaluate w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::033f2e081d2e4f2ba2b33425c3b27072
https://doi.org/10.1101/738260
https://doi.org/10.1101/738260