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Material Type: Artigo
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Recessive mutations in >VPS13D cause childhood onset movement disordersGauthier, Julie ; Meijer, Inge A. ; Lessel, Davor ; Mencacci, Niccolò E. ; Krainc, Dimitri ; Hempel, Maja ; Tsiakas, Konstantinos ; Prokisch, Holger ; Rossignol, Elsa ; Helm, Margaret H. ; Rodan, Lance H. ; Karamchandani, Jason ; Carecchio, Miryam ; Lubbe, Steven J. ; Telegrafi, Aida ; Henderson, Lindsay B. ; Lorenzo, Kerry ; Wallace, Stephanie E. ; Glass, Ian A. ; Hamdan, Fadi F. ; Michaud, Jacques L. ; Rouleau, Guy A. ; Campeau, Philippe M.Annals of neurology, 2018-06, Vol.83 (6), p.1089-1095 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingJansen, Iris E ; Ye, Hui ; Heetveld, Sasja ; Lechler, Marie C ; Michels, Helen ; Seinstra, Renée I ; Lubbe, Steven J ; Drouet, Valérie ; Lesage, Suzanne ; Majounie, Elisa ; Gibbs, J Raphael ; Nalls, Mike A ; Ryten, Mina ; Botia, Juan A ; Vandrovcova, Jana ; Simon-Sanchez, Javier ; Castillo-Lizardo, Melissa ; Rizzu, Patrizia ; Blauwendraat, Cornelis ; Chouhan, Amit K ; Li, Yarong ; Yogi, Puja ; Amin, Najaf ; van Duijn, Cornelia M ; Morris, Huw R ; Brice, Alexis ; Singleton, Andrew B ; David, Della C ; Nollen, Ellen A ; Jain, Shushant ; Shulman, Joshua M ; Heutink, PeterGenome Biology, 2017-01, Vol.18 (1), p.22-22, Article 22 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case reportNorman, Brendan P ; Lubbe, Steven J ; Tan, Manuela ; Warren, Naomi ; Morris, Huw RBMC neurology, 2017-08, Vol.17 (1), p.153-153, Article 153 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studiesVallerga, Costanza L ; Tan, Manuela ; Kia, Demis A ; Xue, Angli ; Young, Emily ; Sharma, Manu ; Krohn, Lynne ; Siitonen, Ari ; Iwaki, Hirotaka ; Leonard, Hampton ; Botia, Juan A ; Martinez, Maria ; Jankovic, Joseph ; Sutherland, Margaret ; Majamaa, Kari ; Andreassen, Ole A ; Gan-Or, Ziv ; Gasser, Thomas ; Heutink, Peter ; Gratten, Jacob ; Alvarez, Ignacio ; Alvarez, Victoria ; Bandres-Ciga, Sara ; Bergareche Yarza, Jesús Alberto ; Billingsley, Kimberley ; Bonilla-Toribio, Marta ; Botía, Juan A ; Boungiorno, María Teresa ; Bras, Jose ; Bubb, Vivien ; Buiza-Rueda, Dolores ; Cerdan, Debora ; Chelban, Viorica ; Corvol, Jean-Christophe ; Craig, David W ; Danjou, Fabrice ; Diez-Fairen, Monica ; Escott-Price, Valentina ; Ezquerra, Mario ; Fernández, Manel ; Fernández-Santiago, Rubén ; Gan-Or, Ziv ; Garcia, Ciara ; García-Ruiz, Pedro ; Hernandez, Dena G ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Kaiyrzhanov, Rauan ; Kia, Demis A ; Leonard, Hampton L ; Lewis, Patrick ; Lopez-Sendon, Jose Luis ; Lovering, Ruth ; Lubbe, Steven ; Majamaa, Kari ; Manzoni, Claudia ; Marti, Maria Jose ; Méndez-del-Barrio, Carlota ; Middlehurst, Ben ; Mínguez, Adolfo ; Muñoz, Esteban ; Pagola, Ana Gorostidi ; Pastor, Pau ; Perez Errazquin, Francisco ; Periñán-Tocino, Teresa ; Reed, Xylena ; Rezola, Elisabet Mondragon ; Rodriguez, Antonio Sanchez ; Ruiz-Martínez, Javier ; Sadykova, Dinara ; Shashkin, Chingiz ; Sierra, María ; Simón-Sánchez, Javier ; Singleton, Andrew B ; Suarez-Sanmartin, Esther ; Tabernero, Cesar ; Tolosa, Eduard ; van Hilten, Jacobus J ; Vargas-González, Laura ; Wood, Nicholas W ; Zimprich, Alexander ; Reich, Stephen ; Savitt, Joseph ; Bryc, Katarzyna ; Hicks, Barry ; Jiang, Yunxuan ; McCreight, Jennifer C. ; McIntyre, Matthew H. ; Noblin, Elizabeth S. ; Sathirapongsasuti, J. Fah ; Tung, Joyce ; Anderson, Tim ; Bentley, Steven ; Kennedy, Martin ; Mellick, George ; Sidorenko, Julia ; Silburn, Peter A. ; Visscher, Peter M. ; Yang, JianLancet neurology, 2019-12, Vol.18 (12), p.1091-1102 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk ScoreIwaki, Hirotaka ; Makarious, Mary B. ; Bandrés‐Ciga, Sara ; Leonard, Hampton L. ; Gibbs, J. Raphael ; Singleton, Andrew B. ; Middlehurst, Ben ; Kia, Demis A ; Houlden, Henry ; Morris, Huw R ; Plun‐Favreau, Helene ; Quinn, John ; Mok, Kin Y ; Kinghorn, Kerri J. ; Wood, Nicholas W ; Lewis, Patrick ; Lovering, Ruth ; Rizig, Mie ; Ryten, Mina ; Guelfi, Sebastian ; Escott‐Price, Valentina ; Chelban, Viorica ; Foltynie, Thomas ; Williams, Nigel ; Morrison, Karen E. ; Clarke, Carl ; Brice, Alexis ; Danjou, Fabrice ; Lesage, Suzanne ; Martinez, Maria ; Simón‐Sánchez, Javier ; Heutink, Peter ; Rizzu, Patrizia ; Sharma, Manu ; Gasser, Thomas ; Bandres‐Ciga, Sara ; Blauwendraat, Cornelis ; Craig, David W. ; Billingsley, Kimberley ; Narendra, Derek ; Raphael Gibbs, J ; Shulman, Joshua M. ; Iwaki, Hirotaka ; Leonard, Hampton L. ; Nalls, Mike A. ; Finkbeiner, Steven ; Lungu, Codrin ; Singleton, Andrew B ; Gan‐Or, Ziv ; Rouleau, Guy A. ; Krohn, Lynne ; Aguilar, Miquel ; Alvarez, Ignacio ; Alvarez, Victoria ; Barrero, Francisco Javier ; Yarza, Jesús Alberto Bergareche ; Bonilla‐Toribio, Marta ; Boungiorno, María Teresa ; Buiza‐Rueda, Dolores ; Cámara, Ana ; Carrillo, Fátima ; Carrión‐Claro, Mario ; Cerdan, Debora ; Diez‐Fairen, Monica ; Dols‐Icardo, Oriol ; Duarte, Jacinto ; Duran, Raquel ; Escamilla‐Sevilla, Francisco ; Feliz, Cici ; Fernández, Manel ; Gonzalez‐Aramburu, Isabel ; Pagola, Ana Gorostidi ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Jimenez‐Escrig, Adriano ; Kulisevsky, Jaime ; Labrador‐Espinosa, Miguel A. ; Lopez‐Sendon, Jose Luis ; Torres, Irene Martínez ; Mir, Pablo ; Rezola, Elisabet Mondragon ; Periñán‐Tocino, Teresa ; Ruiz‐Martínez, Javier ; Ruz, Clara ; Rodriguez, Antonio Sanchez ; Tabernero, Cesar ; Tartari, Juan Pablo ; Tolosa, Eduard ; Valldeoriola, Francesc ; Vela, Lydia ; Vives, Francisco ; Zimprich, Alexander ; Koks, Sulev ; Siitonen, Ari ; Kaiyrzhanov, Coordinator ‐ Rauan ; Zharkinbekova, Nazira ; Aitkulova, Akbota ; Kaishybayeva, Gulnaz ; Karimova, AltynayMovement disorders, 2020-05, Vol.35 (5), p.774-780 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic InsightAhmed, Sarah ; Jesús, Silvia ; Méndez‐del‐Barrio, Carlota ; Vargas‐González, Laura ; Tartari, Juan Pablo ; Mondragon, Elisabet ; Vinagre‐Aragon, Ana ; Dols‐Icardo, Oriol ; Pascual‐Sedano, Berta ; Ezquerra, Mario ; Cámara, Ana ; Compta, Yaroslau ; Fernández, Manel ; Sierra, María ; Menéndez‐González, Manuel ; García‐Ruiz, Pedro ; Vela‐Desojo, Lydia ; Barrero, Francisco Javier ; Mínguez‐Castellanos, Adolfo ; Cerdan, Debora ; Gomez Heredia, Maria Jose ; Feliz, Cici ; Lopez‐Sendon, Jose Luis ; Martínez Torres, Irene ; Kim, Jonggeol Jeffrey ; Botia, Juan A. ; Morrison, Karen E. ; Morris, Huw ; Edsall, Connor ; Vives, Francisco ; Duran, Raquel ; Hoenicka, Janet ; Alvarez, Victoria ; Marti, Maria José ; Singleton, Andrew ; Noyce, Alastair J ; Holmans, Peter ; Trabzuni, Daniah ; Bras, Jose ; Wood, Nicholas W ; Guerreiro, Rita ; Guelfi, Sebastian ; Chelban, Viorica ; Foltynie, Thomas ; Morrison, Karen E. ; Brockmann, Kathrin ; Gasser, Thomas ; Cookson, Mark R ; Blauwendraat, Cornelis ; Craig, David W. ; Faghri, Faraz ; Gibbs, J Raphael ; Shulman, Joshua M. ; Leonard, Hampton L. ; Nalls, Mike A. ; Robak, Laurie ; Lubbe, Steven ; Mencacci, Niccolo E. ; Alcalay, Roy N. ; Krohn, Lynne ; Aguilar, Miquel ; Alvarez, Ignacio ; Yarza, Jesús Alberto Bergareche ; Blazquez, Marta ; Botía, Juan A. ; Boungiorno, María Teresa ; Buiza-Rueda, Dolores ; Clarimón, Jordi ; Casa, Beatríz ; Diez-Fairen, Monica ; Dols-Icardo, Oriol ; Duarte, Jacinto ; Fernández, Manel ; Heredia, Maria Jose Gomez ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Jimenez-Escrig, Adriano ; Arregui, Adolfo López de Munain ; Marín, Juan ; Mata, Marina ; Mínguez, Adolfo ; Mir, Pablo ; Pascual-Sedano, Berta ; Pastor, Pau ; Errazquin, Francisco Perez ; Ruiz-Martínez, Javier ; Rodriguez, Antonio Sanchez ; Sierra, María ; Suarez-Sanmartin, Esther ; Tolosa, Eduard ; Valldeoriola, Francesc ; Vargas-González, Laura ; Zimprich, Alexander ; Taba, Pille ; Dalgard, Clifton L. ; Adeleye, Adelani ; Soltis, Anthony R. ; Bacikova, Dagmar ; Wilkerson, Matthew D.Movement disorders, 2019-12, Vol.34 (12), p.1851-1863 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s diseaseLeonard, Hampton ; Blauwendraat, Cornelis ; Krohn, Lynne ; Faghri, Faraz ; Iwaki, Hirotaka ; Ferguson, Glen ; Day-Williams, Aaron G ; Stone, David J ; Singleton, Andrew B ; Nalls, Mike A ; Gan-Or, ZivJournal of medical genetics, 2020-05, Vol.57 (5), p.331-338 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's DiseaseFernández‐Santiago, Rubén ; Martín‐Flores, Núria ; Antonelli, Francesca ; Cerquera, Catalina ; Moreno, Verónica ; Bandres‐Ciga, Sara ; Manduchi, Elisabetta ; Tolosa, Eduard ; Singleton, Andrew B. ; Moore, Jason H. ; Martí, María‐Josep ; Ezquerra, Mario ; Malagelada, CristinaMovement disorders, 2019-09, Vol.34 (9), p.1333-1344 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disordersLamb, Ruth ; Rohrer, Jonathan D ; Real, Raquel ; Lubbe, Steven J ; Waite, Adrian J ; Blake, Derek J ; Walters, R Jon ; Lashley, Tammaryn ; Revesz, Tamas ; Holton, Janice L ; Morris, Huw RCold Spring Harbor molecular case studies, 2019-06, Vol.5 (3), p.1 [Periódico revisado por pares]Cold Spring Harbor: Cold Spring Harbor Laboratory PressTexto completo disponível |