Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease

por Benitez, Bruno A., Davis, Albert A., Jin, Sheng Chih, Ibanez, Laura, Ortega-Cubero, Sara, Pastor, Pau, Choi, Jiyoon, Cooper, Breanna, Perlmutter, Joel S., Cruchaga, Carlos
Publicado 2016

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

por Ibanez, Laura, Dube, Umber, Davis, Albert A., Fernandez, Maria V., Budde, John, Cooper, Breanna, Diez-Fairen, Monica, Ortega-Cubero, Sara, Pastor, Pau, Perlmutter, Joel S., Cruchaga, Carlos, Benitez, Bruno A.
Publicado 2018

Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor

por Ayuso, Pedro, Agúndez, José A.G., Alonso-Navarro, Hortensia, Martínez, Carmen, Benito-León, Julián, Ortega-Cubero, Sara, Lorenzo-Betancor, Oswaldo, Pastor, Pau, López-Alburquerque, Tomás, García-Martín, Elena, Jiménez-Jiménez, Félix J.
Publicado 2015

Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Multiple Sclerosis

por Agúndez, José A. G., García-Martín, Elena, Martínez, Carmen, Benito-León, Julián, Millán-Pascual, Jorge, Díaz-Sánchez, María, Calleja, Patricia, Pisa, Diana, Turpín-Fenoll , Laura, Alonso-Navarro, Hortensia, Pastor, Pau, Ortega-Cubero, Sara, Ayuso-Peralta, Lucía, Torrecillas, Dolores, García-Albea, Esteban, Plaza-Nieto, José Francisco, Jiménez-Jiménez, Félix Javier
Publicado 2016

Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome

por García-Martín, Elena, Jiménez-Jiménez, Félix Javier, Alonso-Navarro, Hortensia, Martínez, Carmen, Zurdo, Martín, Turpín-Fenoll, Laura, Millán-Pascual, Jorge, Adeva-Bartolomé, Teresa, Cubo, Esther, Navacerrada, Francisco, Rojo-Sebastián, Ana, Rubio, Lluisa, Ortega-Cubero, Sara, Pastor, Pau, Calleja, Marisol, Plaza-Nieto, José Francisco, Pilo-de-la-Fuente, Belén, Arroyo-Solera, Margarita, García-Albea, Esteban, Agúndez, José A.G.
Publicado 2015

Association Between Vitamin D Receptor rs731236 (Taq1) Polymorphism and Risk for Restless Legs Syndrome in the Spanish Caucasian Population

por Jiménez-Jiménez, Félix Javier, García-Martín, Elena, Alonso-Navarro, Hortensia, Martínez, Carmen, Zurdo, Martín, Turpín-Fenoll, Laura, Millán-Pascual, Jorge, Adeva-Bartolomé, Teresa, Cubo, Esther, Navacerrada, Francisco, Rojo-Sebastián, Ana, Rubio, Lluisa, Ortega-Cubero, Sara, Pastor, Pau, Calleja, Marisol, Plaza-Nieto, José Francisco, Pilo-De-La-Fuente, Belén, Arroyo-Solera, Margarita, García-Albea, Esteban, Agúndez, José A.G.
Publicado 2015

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

por Verheijen, Jan, Van den Bossche, Tobi, van der Zee, Julie, Engelborghs, Sebastiaan, Sanchez-Valle, Raquel, Lladó, Albert, Graff, Caroline, Thonberg, Håkan, Pastor, Pau, Ortega-Cubero, Sara, Pastor, Maria A., Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Clarimon, Jordi, Lleó, Alberto, Fortea, Juan, de Mendonça, Alexandre, Martins, Madalena, Grau-Rivera, Oriol, Gelpi, Ellen, Bettens, Karolien, Mateiu, Ligia, Dillen, Lubina, Cras, Patrick, De Deyn, Peter P., Van Broeckhoven, Christine, Sleegers, Kristel
Publicado 2016

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

por Bras, Jose, Guerreiro, Rita, Darwent, Lee, Parkkinen, Laura, Ansorge, Olaf, Escott-Price, Valentina, Hernandez, Dena G., Nalls, Michael A., Clark, Lorraine N., Honig, Lawrence S., Marder, Karen, Van Der Flier, Wiesje M., Lemstra, Afina, Scheltens, Philip, Rogaeva, Ekaterina, St George-Hyslop, Peter, Londos, Elisabet, Zetterberg, Henrik, Ortega-Cubero, Sara, Pastor, Pau, Ferman, Tanis J., Graff-Radford, Neill R., Ross, Owen A., Barber, Imelda, Braae, Anne, Brown, Kristelle, Morgan, Kevin, Maetzler, Walter, Berg, Daniela, Troakes, Claire, Al-Sarraj, Safa, Lashley, Tammaryn, Compta, Yaroslau, Revesz, Tamas, Lees, Andrew, Cairns, Nigel, Halliday, Glenda M., Mann, David, Pickering-Brown, Stuart, Dickson, Dennis W., Singleton, Andrew, Hardy, John
Publicado 2014

Rare Variants in PLD3 Do Not Affect Risk for Early‐Onset Alzheimer Disease in a European Consortium Cohort

por Cacace, Rita, Van den Bossche, Tobi, Engelborghs, Sebastiaan, Geerts, Nathalie, Laureys, Annelies, Dillen, Lubina, Graff, Caroline, Thonberg, Håkan, Chiang, Huei‐Hsin, Pastor, Pau, Ortega‐Cubero, Sara, Pastor, Maria A., Diehl‐Schmid, Janine, Alexopoulos, Panagiotis, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Nacmias, Benedetta, Sorbi, Sandro, Sanchez‐Valle, Raquel, Lladó, Albert, Gelpi, Ellen, Almeida, Maria Rosário, Santana, Isabel, Tsolaki, Magda, Koutroumani, Maria, Clarimon, Jordi, Lleó, Alberto, Fortea, Juan, de Mendonça, Alexandre, Martins, Madalena, Borroni, Barbara, Padovani, Alessandro, Matej, Radoslav, Rohan, Zdenek, Vandenbulcke, Mathieu, Vandenberghe, Rik, De Deyn, Peter P., Cras, Patrick, van der Zee, Julie, Sleegers, Kristel, Van Broeckhoven, Christine
Publicado 2015

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

por Guerreiro, Rita, Escott-Price, Valentina, Darwent, Lee, Parkkinen, Laura, Ansorge, Olaf, Hernandez, Dena G., Nalls, Michael A., Clark, Lorraine, Honig, Lawrence, Marder, Karen, van der Flier, Wiesje, Holstege, Henne, Louwersheimer, Eva, Lemstra, Afina, Scheltens, Philip, Rogaeva, Ekaterina, St George-Hyslop, Peter, Londos, Elisabet, Zetterberg, Henrik, Ortega-Cubero, Sara, Pastor, Pau, Ferman, Tanis J., Graff-Radford, Neill R., Ross, Owen A., Barber, Imelda, Braae, Anne, Brown, Kristelle, Morgan, Kevin, Maetzler, Walter, Berg, Daniela, Troakes, Claire, Al-Sarraj, Safa, Lashley, Tammaryn, Compta, Yaroslau, Revesz, Tamas, Lees, Andrew, Cairns, Nigel J., Halliday, Glenda M., Mann, David, Pickering-Brown, Stuart, Powell, John, Lunnon, Katie, Lupton, Michelle K., Dickson, Dennis, Hardy, John, Singleton, Andrew, Bras, Jose
Publicado 2016

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease

por De Roeck, Arne, Van den Bossche, Tobi, van der Zee, Julie, Verheijen, Jan, De Coster, Wouter, Van Dongen, Jasper, Dillen, Lubina, Baradaran-Heravi, Yalda, Heeman, Bavo, Sanchez-Valle, Raquel, Lladó, Albert, Nacmias, Benedetta, Sorbi, Sandro, Gelpi, Ellen, Grau-Rivera, Oriol, Gómez-Tortosa, Estrella, Pastor, Pau, Ortega-Cubero, Sara, Pastor, Maria A., Graff, Caroline, Thonberg, Håkan, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, de Mendonça, Alexandre, Martins, Madalena, Borroni, Barbara, Padovani, Alessandro, Almeida, Maria Rosário, Santana, Isabel, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Clarimon, Jordi, Lleó, Alberto, Fortea, Juan, Tsolaki, Magda, Koutroumani, Maria, Matěj, Radoslav, Rohan, Zdenek, De Deyn, Peter, Engelborghs, Sebastiaan, Cras, Patrick, Van Broeckhoven, Christine, Sleegers, Kristel
Publicado 2017

Genome-wide association study in essential tremor identifies three new loci

por Müller, Stefanie H., Girard, Simon L., Hopfner, Franziska, Merner, Nancy D., Bourassa, Cynthia V., Lorenz, Delia, Clark, Lorraine N., Tittmann, Lukas, Soto-Ortolaza, Alexandra I., Klebe, Stephan, Hallett, Mark, Schneider, Susanne A., Hodgkinson, Colin A., Lieb, Wolfgang, Wszolek, Zbigniew K., Pendziwiat, Manuela, Lorenzo-Betancor, Oswaldo, Poewe, Werner, Ortega-Cubero, Sara, Seppi, Klaus, Rajput, Alex, Hussl, Anna, Rajput, Ali H., Berg, Daniela, Dion, Patrick A., Wurster, Isabel, Shulman, Joshua M., Srulijes, Karin, Haubenberger, Dietrich, Pastor, Pau, Vilariño-Güell, Carles, Postuma, Ronald B., Bernard, Geneviève, Ladwig, Karl-Heinz, Dupré, Nicolas, Jankovic, Joseph, Strauch, Konstantin, Panisset, Michel, Winkelmann, Juliane, Testa, Claudia M., Reischl, Eva, Zeuner, Kirsten E., Ross, Owen A., Arzberger, Thomas, Chouinard, Sylvain, Deuschl, Günther, Louis, Elan D., Kuhlenbäumer, Gregor, Rouleau, Guy A.
Publicado 2016

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

por van der Zee, Julie, Van Langenhove, Tim, Kovacs, Gabor G., Dillen, Lubina, Deschamps, William, Engelborghs, Sebastiaan, Matěj, Radoslav, Vandenbulcke, Mathieu, Sieben, Anne, Dermaut, Bart, Smets, Katrien, Van Damme, Philip, Merlin, Céline, Laureys, Annelies, Van Den Broeck, Marleen, Mattheijssens, Maria, Peeters, Karin, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, do Couto, Frederico Simões, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Graff, Caroline, Chiang, Huei-Hsin, Thonberg, Håkan, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Frisoni, Giovanni B., Bonvicini, Christian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Haack, Tobias B., Strom, Tim M., Prokisch, Holger, Dols-Icardo, Oriol, Clarimón, Jordi, Lleó, Alberto, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Heneka, Michael T., Jessen, Frank, Ramirez, Alfredo, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Parobkova, Eva, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Ströbel, Thomas, Santens, Patrick, Robberecht, Wim, De Jonghe, Peter, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Sleegers, Kristel, Van Broeckhoven, Christine
Publicado 2014

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

por van der Zee, Julie, Gijselinck, Ilse, Van Mossevelde, Sara, Perrone, Federica, Dillen, Lubina, Heeman, Bavo, Bäumer, Veerle, Engelborghs, Sebastiaan, De Bleecker, Jan, Baets, Jonathan, Gelpi, Ellen, Rojas‐García, Ricardo, Clarimón, Jordi, Lleó, Alberto, Diehl‐Schmid, Janine, Alexopoulos, Panagiotis, Perneczky, Robert, Synofzik, Matthis, Just, Jennifer, Schöls, Ludger, Graff, Caroline, Thonberg, Håkan, Borroni, Barbara, Padovani, Alessandro, Jordanova, Albena, Sarafov, Stayko, Tournev, Ivailo, de Mendonça, Alexandre, Miltenberger‐Miltényi, Gabriel, Simões do Couto, Frederico, Ramirez, Alfredo, Jessen, Frank, Heneka, Michael T., Gómez‐Tortosa, Estrella, Danek, Adrian, Cras, Patrick, Vandenberghe, Rik, De Jonghe, Peter, De Deyn, Peter P., Sleegers, Kristel, Cruts, Marc, Van Broeckhoven, Christine, Goeman, Johan, Nuytten, Dirk, Smets, Katrien, Robberecht, Wim, Damme, Philip Van, Bleecker, Jan De, Santens, Patrick, Dermaut, Bart, Versijpt, Jan, Michotte, Alex, Ivanoiu, Adrian, Deryck, Olivier, Bergmans, Bruno, Delbeck, Jean, Bruyland, Marc, Willems, Christiana, Salmon, Eric, Pastor, Pau, Ortega‐Cubero, Sara, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Sorbi, Sandro, Sanchez‐Valle, Raquel, Llado, Albert, Santana, Isabel, Rosário Almeida, Maria, Frisoni, Giovanni B, Maetzler, Walter, Matej, Radoslav, Fraidakis, Matthew J., Kovacs, Gabor G., Fabrizi, Gian Maria, Testi, Silvia
Publicado 2017