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Genome‐wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project
Alzheimer's &Dementia, Volume 15, Issue 10, Page 1333-1347, October 2019., 2019 Abstract
Introduction
Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods
Genome Research at Fundacio ACE (GR@ACE) is a genome‐wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden.Sonia Moreno‐Grau, Itziar de Rojas, Isabel Hernández, Inés Quintela, Laura Montrreal, Montserrat Alegret, Begoña Hernández‐Olasagarre, Laura Madrid, Antonio González‐Perez, Olalla Maroñas, Maitée Rosende‐Roca, Ana Mauleón, Liliana Vargas, Asunción Lafuente, Carla Abdelnour, Octavio Rodríguez‐Gómez, Silvia Gil, Miguel Ángel Santos‐Santos, Ana Espinosa, Gemma Ortega, Ángela Sanabria, Alba Pérez‐Cordón, Pilar Cañabate, Mariola Moreno, Silvia Preckler, Susana Ruiz, Nuria Aguilera, Juan Antonio Pineda, Juan Macías, Emilio Alarcón‐Martín, Oscar Sotolongo‐Grau, GR@ACE consortium, C. Abdelnour, N. Aguilera, E. Alarcon, M. Alegret, A. Benaque, M. Boada, M. Buendia, P. Cañabate, A. Carracedo, A. Corbatón, I. de Rojas, S. Diego, A. Espinosa, A. Gailhajenet, P. García González, S. Gil, M. Guitart, A. González Pérez, I. Hernández, M. Ibarria, A. Lafuente, J. Macias, O. Maroñas, E. Martín, M.T. Martínez, M. Marquié, A. Mauleón, G. Monté‐Rubio, L. Montrreal, S. Moreno‐Grau, M. Moreno, A. Orellana, G. Ortega, A. Pancho, E. Pelejà, A. Pérez‐Cordon, J.A. Pineda, S. Preckler, I. Quintela, L.M. Real, O. Rodríguez‐Gómez, M. Rosende‐Roca, A. Ruiz, S. Ruiz, M.E. Sáez, A. Sanabria, M.A. Santos‐Santos, M. Serrano‐Rios, O. Sotolongo‐Grau, L. Tárraga, S. Valero, L. Vargas, DEGESCO consortium, A.D. Adarmes‐Gómez, E. Alarcón‐Martín, I. Álvarez, V. Álvarez, Goo Amer‐Ferrer, M. Antequera, C. Antúnez, M. Baquero, M. Bernal, R. Blesa, M. Boada, D. Buiza‐Rueda, M.J. Bullido, J.A. Burguera, M. Calero, F. Carrillo, M. Carrión‐Claro, M.J. Casajeros, J. Clarimón, J.M. Cruz‐Gamero, M.M. de Pancorbo, I. de Rojas, T. del Ser, M. Diez‐Fairen, J. Fortea, E. Franco, A. Frank‐García, J.M. García‐Alberca, S. Garcia Madrona, G. Garcia‐Ribas, P. Gómez‐Garre, I. Hernández, S. Hevilla, S. Jesús, Labrador Espinosa, C. Lage, A. Legaz, A. Lleó, A. López de Munáin, S. López‐García, D. Macias, S. Manzanares, M. Marín, J. Marín‐Muñoz, T. Marín, M. Marquié, A. Martín Montes, B. Martínez, C. Martínez, V. Martínez, P. Martínez‐Lage Álvarez, M. Medina, M. Mendioroz Iriarte, M. Menéndez‐González, P. Mir, J.L. Molinuevo, G. Monté‐Rubio, L. Montrreal, S. Moreno‐Grau, A. Orellana, A.B. Pastor, P. Pastor, J. Pérez Tur, T. Periñán‐Tocino, G. Piñol Ripoll, A. Rábano, D. Real de Asúa, S. Rodrigo, E. Rodríguez‐Rodríguez, J.L. Royo, Ruiz A, R. Sanchez del Valle Díaz, P. Sánchez‐Juan, I. Sastre, O. Sotolongo‐Grau, L. Tárraga, S. Valero, M.P. Vicente, L. Vivancos, Alzheimer's Disease Neuroimaging Initiative, Marta Marquié, Gemma Monté‐Rubio, Sergi Valero, Alba Benaque, Jordi Clarimón, Maria Jesus Bullido, Guillermo García‐Ribas, Pau Pástor, Pascual Sánchez‐Juan, Victoria Álvarez, Gerard Piñol‐Ripoll, Jose Maria García‐Alberca, José Luis Royo, Emilio Franco, Pablo Mir, Miguel Calero, Miguel Medina, Alberto Rábano, Jesús Ávila, Carmen Antúnez, Luis Miguel Real, Adelina Orellana, Ángel Carracedo, María Eugenia Sáez, Lluís Tárraga, Mercè Boada, Agustín Ruiz +191 morewiley +1 more sourceAltered β‐Amyloid Precursor Protein Isoforms in Mexican Alzheimer’s Disease Patients
Disease Markers, Volume 22, Issue 3, Page 119-125, 2006., 2006 Objective: To determine the β‐amyloid precursor protein (βAPP) isoforms ratio as a risk factor for Alzheimer’s Disease and to assess its relationship with demographic and genetic variables of the disease.
Methods: Blood samples from 26 patients fulfilling NINCDS‐ADRDA diagnostic criteria for AD and 46 healthy control subjects were collected for Western V. J. Sánchez-González, G. G. Ortiz, P. Gallegos-Arreola, M. A. Macías-Islas, E. D. Arias-Merino, V. Loera-Castañeda, E. Martínez-Cano, I. E. Velázquez-Brizuela, S. A. Rosales-Corral, C. R. Curiel-Ortega, F. Pacheco-Moisés, J. J. García +11 morewiley +1 more sourceEarly Hemostatic Treatment Could Improve 30‐Day Survival After Spontaneous Rupture of Hepatocellular Carcinoma
Liver International, Volume 45, Issue 10, October 2025.ABSTRACT Introduction
Spontaneous rupture of hepatocellular carcinoma (SRHCC) presents a critical clinical challenge, with early haemostasis often difficult to achieve and limited data available on subsequent treatment strategies. This study aims to evaluate whether the initial hemostatic approach influences early prognosis and facilitates further ...Apolline Commin, Chloé Metivier, Manon Allaire, Jean Lubrano, Amandine Claudinot, Audrey Coilly, Marc‐Antoine Allard, Charles Roux, Olivier Scatton, Jean Charles Nault, Olivier Sutter, Nathalie Ganne‐Carrié, Thuy Vi Ngo, Valérie Le Goff, Zeineb Ben Ali, Husni Tedlaouti, Josephine Papin, Marion Habireche, Louise Lebedel, Claire Pérignon, Thông Dao, Rémy Morello, Isabelle Ollivier‐Hourmand +22 morewiley +1 more sourceGaps in biomedical research in frontotemporal dementia: A call for diversity and disparities focused research
Alzheimer's &Dementia, Volume 20, Issue 12, Page 9014-9036, December 2024.Abstract
Frontotemporal dementia (FTD) is one of the leading causes of young‐onset dementia before age 65, typically manifesting as abnormal behavior (in behavioral variant FTD) or language impairment (in primary progressive aphasia). Although FTD affects all populations across the globe, knowledge regarding the pathophysiology and genetics derives ...Karen Nuytemans, Sanne Franzen, Iris J. Broce, Paulo Caramelli, Ratnavalli Ellajosyula, Elizabeth Finger, Veer Gupta, Vivek Gupta, Ignacio Illán‐Gala, Samantha M. Loi, Darby Morhardt, Yolande Pijnenburg, Katya Rascovsky, Monique M. Williams, Jennifer S. Yokoyama, Juliana Acosta‐Uribe, Rufus Akinyemi, Suvarna Alladi, Biniyam A. Ayele, Yavuz Ayhan, Renelle Bourdage, Sheila Castro‐Suarez, Leonardo Cruz de Souza, Penny Dacks, Sterre C. M. de Boer, Jessica de Leon, Shana Dodge, Stephanie Grasso, Nupur Ghoshal, Vidyulata Kamath, Fiona Kumfor, Jordi A. Matias‐Guiu, Pauline Narme, T. Rune Nielsen, Daniel Okhuevbie, Stefanie Piña‐Escudero, Ramiro Ruiz‐Garcia, Brigid Ryan, Marta Scarioni, Andrea Slachevsky, Aida Suarez‐Gonzalez, Boon Lead Tee, Elena Tsoy, Hulya Ulugut, Chiadi U. Onyike, Ganesh M. Babulal, ISTAART Frontotemporal Dementia and Related Disorders PIA, ISTAART Diversity and Disparities PIA +47 morewiley +1 more sourceEthiologic diagnosis of dementia syndrome.
Medisur, 2006 Dementia prevalence is between 4,5 and 18,5%, the inferior numbers are in the underdeveloped countries. Studies carried out in Cuba, shows approximately a 10% for more than 60 year old persons, what makes consider dementia as a health problem of huge ...Erélido Hernández Valero, María Octavina Rodríguez Roque +1 moredoaj +2 more sourcesDemência resultante de malformação vascular dural.
Acta Médica Portuguesa, 2001 A case of dementia can result from encephalopathy caused by venous hypertension, produced by a dural vascular malformation (DVM). The authors describe one tentorial DVM with sinusal venous drainage and retrograde reflux to the cerebral veins (type II ...Z Magalhães, J R Pereira, A M Reis, S Pereira, A R Vaz +4 moredoaj +1 more sourceA genome‐wide association meta‐analysis of all‐cause and vascular dementia
Alzheimer's &Dementia, Volume 20, Issue 9, Page 5973-5995, September 2024.Abstract INTRODUCTION
Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome‐wide association studies (GWAS) focus on AD. METHODS
We conducted a GWAS of all‐cause dementia (ACD) and examined the genetic overlap with VaD.The Mega Vascular Cognitive Impairment and Dementia (MEGAVCID) consortium, Bernard Fongang, Muralidharan Sargurupremraj, Xueqiu Jian, Aniket Mishra, Vincent Damotte, Itziar de Rojas, Olivia Skrobot, Joshua C. Bis, Kang‐Hsien Fan, Erin Jacobsen, Gloria Hoi‐Yee Li, Jingyun Yang, Bizzarro Alessandra, Lauria Alessandra, Saima Hilal, Joyce Ruifen Chong, Yuek Ling Chai, M. J. Knol, Maria Pina Concas, Girotto Giorgia, Moeen Riaz, Chenglong Yu, Alexander Guojonsson, Paul Lacaze, Adam C Naj, Monica Gireud‐Goss, Yannick N. Wadop, Aicha Soumare, Vincent Bouteloup, Vilmundur Gudnason, Petronilla Battista, Aurora Santin, Beatrice Spedicati, Rodolfo Sardone, Lenore Launer, Jan Bressler, Rebecca F Gottesman, Quentin Le Grand, Ilana Caro, Gennady V. Roshchupkin, Hampton L. Leonard, Chaojie Yang, Traci M. Bartz, Constance Bordes, Paul M. Ridker, Mirjam I. Geerlings, Natalie C. Gasca, Ani Manichaikul, Mike A. Nalls, Stephen S. Rich, Carsten O. Schmidt, Stella Trompet, Jessica van Setten, Marion van Vugt, Hans J. Grabe, J Wouter Jukema, Ina L. Rissanen, Sylvia Wassertheil‐Smoller, M. Arfan Ikram, Eleanor M. Simonsick, W T. Longstreth, Daniel I. Chasman, Jerome I. Rotter, Naveed Sattar, David J Stott, Eric J Shiroma, Sigurdur Sigurdsson, Mohsen Ghanbari, Ulf Schminke, Eric Boerwinkle, Hugo J Aparicio, Alexa S Beiser, Jose R Romero, Vasileios Lioutas, Ruiqi Wang, Chloe Sarnowski, Alexander Teumer, Uwe Völker, Thomas H. Mosley, Marta Marquié, Pablo García‐González, Clàudia Olivé, Raquel Puerta, Amanda Cano, Oscar Sotolongo‐Grau, Sergi Valero, Vanesa Veronica Pytel, Maitée Rosende‐Roca, Montserrat Alegret, Lluís Tàrraga, Mercè Boada, Ángel Carracedo, Emilio Franco‐Macías, Gerard Piñol‐Ripoll, Guillermo Garcia‐Ribas, Jordi Pérez‐Tur, Jose Luís Royo, Jose María García‐Alberca, Luis Miguel Real, María Eugenia Sáez, María J. Bullido, Miguel Calero, Miguel Medina, Pablo Mir, Pascual Sánchez‐Juan, Pau Pastor, Victoria Álvarez, Benjamin Grenier‐Boley, Fahri Küçükali, Sven Van der Lee, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Jürgen Deckert, Emrah Düzel, Jens Wiltfang, Michael Wagner, Timo Grimmer, Nikolaos Scarmeas, Fermin Moreno, Raquel Sánchez‐Valle, Luis M Real, Eloy Rodriguez‐Rodriguez, Adolfo Lopez de Munain, Alexandre de Mendonça, Jakub Hort, Caroline Graff, Goran Papenberg, Vilmantas Giedraitis, Børge G. Nordestgaard, Hilkka Soininen, Miia Kivipelto, Annakaisa Haapasalo, Gael Nicolas, Florence Pasquier, Olivier Hanon, Edna Grünblatt, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Alessio Squassina, Lucio Tremolizzo, Innocenzo Rainero, Davide Seripa, Julie Williams, Philippe Amouyel, Frank Jessen, Tsolaki Magda, Ruth Frikke‐Schmidt, Kristel Sleegers, Sebastiaan Engelborghs, Rik Vandenberghe, Martin Ingelsson, Giacomina Rossi, Mikko Hiltunen, Rebecca Sims, Magdalena Gugała‐Iwaniuk, Mitchell K. P. Lai, N Venketasubramanian, Boon‐Yeow Tan, Angelo Baldassare Cefalù, Nicola J Armstrong, Roberta Baschi, Regis bordet, Anne‐Marie Bordet, Henry Brodaty, Srdjan Djurovic, Grazia D'Onofrio, Margaret Esiri, Patrick Gelé, Teresa Juarez‐Cedillo, Raj Kalaria, Pekka Karhunen, Jan LACZO, Ondrej LERCH, Carlo Masullo, Karen A Mather, Vaclav MATOSKA, Susanna Melkas, Roberto Monastero, Katya Numbers, Francesco Panza, Tuomo M Polvikoski, Joe Quinn, Arvid Rongve, Perminder S Sachdev, Michela Scamosci, Anbupalam Thalamuthu, Anne Tybjærg‐Hansen, Martin VYHNALEK, Shawn K. Westaway, Amy E Martinsen, Anne Heidi Skogholt, Cristen J Willer, Eystein Stordal, Geir Bråthen, Jonas Bille Nielsen, Lars G Fritsche, Laurent F Thomas, Linda M Pedersen, Maiken E Gabrielsen, Ole Kristian Drange, Sigrid Botne Sando, Tore Wergeland Meisingset, Genevieve Chene, Wei Zhou, Christophe Tzourio, Adrienne Tin, Oscar L Lopez, Haan Mary, Allison E Aiello, Sigrid Børte, Ingunn Bosnes, Cornelia van Duijn, Ching‐Lung Cheung, David A Bennett, Christopher Chen, M. Ilyas Kamboh, Claudia Satizabal, M. Kamran Ikram, Hieab Adams, Yang Qiong, Gerard D. Schellenberg, Geir Selbæk, Kristian Hveem, Ole A Andreassen, Alfredo Ramirez, Carole Dufouil, Wiesje van der Flier, John‐Anker Zwart, Stéphanie Debette, Myriam Fornage, Bendik Winsvold, Jean‐Charles Lambert, Agustin Ruiz, Patrick G. Kehoe, Galit Weinstein, Sudha Seshadri +239 morewiley +1 more source
