Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population

por Simón-Sánchez, Javier, Seelaar, Harro, Bochdanovits, Zoltán, Deeg, Dorly J. H., van Swieten, John C., Heutink, Peter
Publicado 2009

Profiling transcription initiation in human aged brain using deep-CAGE

por Francescatto, Margherita, Pardo, Luba, Rizzu, Patrizia, Vitezic, Morana, Simón-Sánchez, Javier, Takahashi, Hazuki, Daub, Carsten, Carninci, Piero, Heutink, Peter
Publicado 2011

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

por Giri, Anamika, Guven, Gamze, Hanagasi, Hasmet, Hauser, Ann-Kathrin, Erginul-Unaltuna, Nihan, Bilgic, Basar, Gurvit, Hakan, Heutink, Peter, Gasser, Thomas, Lohmann, Ebba, Simón-Sánchez, Javier
Publicado 2016

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

por Rizzu, Patrizia, Blauwendraat, Cornelis, Heetveld, Sasja, Lynes, Emily M., Castillo-Lizardo, Melissa, Dhingra, Ashutosh, Pyz, Elwira, Hobert, Markus, Synofzik, Matthis, Simón-Sánchez, Javier, Francescatto, Margherita, Heutink, Peter
Publicado 2016

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

por Blauwendraat, Cornelis, Francescatto, Margherita, Gibbs, J. Raphael, Jansen, Iris E., Simón-Sánchez, Javier, Hernandez, Dena G., Dillman, Allissa A., Singleton, Andrew B., Cookson, Mark R., Rizzu, Patrizia, Heutink, Peter
Publicado 2016

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

por Blauwendraat, Cornelis, Wilke, Carlo, Simón-Sánchez, Javier, Jansen, Iris E, Reifschneider, Anika, Capell, Anja, Haass, Christian, Castillo-Lizardo, Melissa, Biskup, Saskia, Maetzler, Walter, Rizzu, Patrizia, Heutink, Peter, Synofzik, Matthis
Publicado 2018

Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

por Nalls, Michael A., Simon-Sanchez, Javier, Gibbs, J. Raphael, Paisan-Ruiz, Coro, Bras, Jose Tomas, Tanaka, Toshiko, Matarin, Mar, Scholz, Sonja, Weitz, Charles, Harris, Tamara B., Ferrucci, Luigi, Hardy, John, Singleton, Andrew B.
Publicado 2009

Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease

por Simón-Sánchez, Javier, Kilarski, Laura L., Nalls, Michael A., Martinez, Maria, Schulte, Claudia, Holmans, Peter, Gasser, Thomas, Hardy, John, Singleton, Andrew B., Wood, Nicholas W., Brice, Alexis, Heutink, Peter, Williams, Nigel, Morris, Huw R.
Publicado 2012

A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes

por Menden, Kevin, Francescatto, Margherita, Nyima, Tenzin, Blauwendraat, Cornelis, Dhingra, Ashutosh, Castillo-Lizardo, Melissa, Fernandes, Noémia, Kaurani, Lalit, Kronenberg-Versteeg, Deborah, Atasu, Burcu, Sadikoglou, Eldem, Borroni, Barbara, Rodriguez-Nieto, Salvador, Simon-Sanchez, Javier, Fischer, Andre, Craig, David Wesley, Neumann, Manuela, Bonn, Stefan, Rizzu, Patrizia, Heutink, Peter
Publicado 2023

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report

por Koriath, Carolin A.M., Bocchetta, Martina, Brotherhood, Emilie, Woollacott, Ione O.C., Norsworthy, Penny, Simón-Sánchez, Javier, Blauwendraat, Cornelis, Dick, Katrina M., Gordon, Elizabeth, Harding, Sophie R., Fox, Nick C., Crutch, Sebastian, Warren, Jason D., Revesz, Tamas, Lashley, Tammaryn, Mead, Simon, Rohrer, Jonathan D.
Publicado 2016

Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

por van de Leemput, Joyce, Chandran, Jayanth, Knight, Melanie A, Holtzclaw, Lynne A, Scholz, Sonja, Cookson, Mark R, Houlden, Henry, Gwinn-Hardy, Katrina, Fung, Hon-Chung, Lin, Xian, Hernandez, Dena, Simon-Sanchez, Javier, Wood, Nick W, Giunti, Paola, Rafferty, Ian, Hardy, John, Storey, Elsdon, Gardner, R. J. McKinlay, Forrest, Susan M, Fisher, Elizabeth M. C, Russell, James T, Cai, Huaibin, Singleton, Andrew B
Publicado 2007

Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus

por Trabzuni, Daniah, Ryten, Mina, Emmett, Warren, Ramasamy, Adaikalavan, Lackner, Karl J., Zeller, Tanja, Walker, Robert, Smith, Colin, Lewis, Patrick A., Mamais, Adamantios, de Silva, Rohan, Vandrovcova, Jana, Hernandez, Dena, Nalls, Michael A., Sharma, Manu, Garnier, Sophie, Lesage, Suzanne, Simon-Sanchez, Javier, Gasser, Thomas, Heutink, Peter, Brice, Alexis, Singleton, Andrew, Cai, Huaibin, Schadt, Eric, Wood, Nicholas W., Bandopadhyay, Rina, Weale, Michael E., Hardy, John, Plagnol, Vincent
Publicado 2013

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

por Klebe, Stephan, Golmard, Jean-Louis, Nalls, Michael A, Saad, Mohamad, Singleton, Andrew B, Bras, Jose M, Hardy, John, Simon-Sanchez, Javier, Heutink, Peter, Kuhlenbäumer, Gregor, Charfi, Rim, Klein, Christine, Hagenah, Johann, Gasser, Thomas, Wurster, Isabel, Lesage, Suzanne, Lorenz, Delia, Deuschl, Günther, Durif, Franck, Pollak, Pierre, Damier, Philippe, Tison, François, Durr, Alexandra, Amouyel, Philippe, Lambert, Jean-Charles, Tzourio, Christophe, Maubaret, Cécilia, Charbonnier-Beaupel, Fanny, Tahiri, Khadija, Vidailhet, Marie, Martinez, Maria, Brice, Alexis, Corvol, Jean-Christophe
Publicado 2013

The chromosome 9 ALS and FTD locus is probably derived from a single founder

por Mok, Kin, Traynor, Bryan J., Schymick, Jennifer, Tienari, Pentti J., Laaksovirta, Hannu, Peuralinna, Terhi, Myllykangas, Liisa, Chiò, Adriano, Shatunov, Aleksey, Boeve, Bradley F., Boxer, Adam L., DeJesus-Hernandez, Mariely, Mackenzie, Ian R., Waite, Adrian, Williams, Nigel, Morris, Huw R., Simón-Sánchez, Javier, van Swieten, John C., Heutink, Peter, Restagno, Gabriella, Mora, Gabriele, Morrison, Karen E., Shaw, Pamela J., Rollinson, Pamela Sara, Al-Chalabi, Ammar, Rademakers, Rosa, Pickering-Brown, Stuart, Orrell, Richard W., Nalls, Michael A., Hardy, John
Publicado 2012

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

por Jansen, 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, Peter
Publicado 2017

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

por Melzer, David, Perry, John R. B., Hernandez, Dena, Corsi, Anna-Maria, Stevens, Kara, Rafferty, Ian, Lauretani, Fulvio, Murray, Anna, Gibbs, J. Raphael, Paolisso, Giuseppe, Rafiq, Sajjad, Simon-Sanchez, Javier, Lango, Hana, Scholz, Sonja, Weedon, Michael N., Arepalli, Sampath, Rice, Neil, Washecka, Nicole, Hurst, Alison, Britton, Angela, Henley, William, van de Leemput, Joyce, Li, Rongling, Newman, Anne B., Tranah, Greg, Harris, Tamara, Panicker, Vijay, Dayan, Colin, Bennett, Amanda, McCarthy, Mark I., Ruokonen, Aimo, Jarvelin, Marjo-Riitta, Guralnik, Jack, Bandinelli, Stefania, Frayling, Timothy M., Singleton, Andrew, Ferrucci, Luigi
Publicado 2008

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

por Mok, Kin Y, Sheerin, Una, Simón-Sánchez, Javier, Salaka, Afnan, Chester, Lucy, Escott-Price, Valentina, Mantripragada, Kiran, Doherty, Karen M, Noyce, Alastair J, Mencacci, Niccolo E, Lubbe, Steven J, Williams-Gray, Caroline H, Barker, Roger A, van Dijk, Karin D, Berendse, Henk W, Heutink, Peter, Corvol, Jean-Christophe, Cormier, Florence, Lesage, Suzanne, Brice, Alexis, Brockmann, Kathrin, Schulte, Claudia, Gasser, Thomas, Foltynie, Thomas, Limousin, Patricia, Morrison, Karen E, Clarke, Carl E, Sawcer, Stephen, Warner, Tom T, Lees, Andrew J, Morris, Huw R, Nalls, Mike A, Singleton, Andrew B, Hardy, John, Abramov, Andrey Y, Plagnol, Vincent, Williams, Nigel M, Wood, Nicholas W
Publicado 2016

Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease

por Simon-Sanchez, Javier, Schulte, Claudia, Bras, Jose M, Sharma, Manu, Gibbs, J Raphael, Berg, Daniela, Paisan-Ruiz, Coro, Lichtner, Peter, Scholz, Sonja W, Hernandez, Dena G, Kruger, Rejko, Federoff, Monica, Klein, Christine, Goate, Alison, Perlmutter, Joel, Bonin, Michael, Nalls, Michael A, Illig, Thomas, Gieger, Christian, Houlden, Henry, Steffens, Michael, Okun, Michael S., Cookson, Mark, Foote, Kelly D, Fernandez, Hubert H, Traynor, Bryan J., Schreiber, Stefan, Arepalli, Sampath, Zonozi, Ryan, Gwinn, Katrina, van der Brug, Marcel, Lopez, Grisel, Chanock, Stephen J, Schatzkin, Arthur, Park, Yikyung, Hollenbeck, Albert, Gao, Jianjun, Huang, Xuemei, Wood, Nick W, Lorenz, Delia, Deuschl, Gunther, Chen, Honglei, Riess, Olaf, Hardy, John A, Singleton, Andrew B, Gasser, Thomas
Publicado 2009

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

por Majounie, Elisa, Renton, Alan E, Mok, Kin, Dopper, Elise GP, Waite, Adrian, Rollinson, Sara, Chiò, Adriano, Restagno, Gabriella, Nicolaou, Nayia, Simon-Sanchez, Javier, van Swieten, John C, Abramzon, Yevgeniya, Johnson, Janel O, Sendtner, Michael, Pamphlett, Roger, Orrell, Richard W, Mead, Simon, Sidle, Katie C, Houlden, Henry, Rohrer, Jonathan D, Morrison, Karen E, Pall, Hardev, Talbot, Kevin, Ansorge, Olaf, Hernandez, Dena G, Arepalli, Sampath, Sabatelli, Mario, Mora, Gabriele, Corbo, Massimo, Giannini, Fabio, Calvo, Andrea, Englund, Elisabet, Borghero, Giuseppe, Floris, Gian Luca, Remes, Anne M, Laaksovirta, Hannu, McCluskey, Leo, Trojanowski, John Q, Van Deerlin, Vivianna M, Schellenberg, Gerard D, Nalls, Michael A, Drory, Vivian E, Lu, Chin-Song, Yeh, Tu-Hsueh, Ishiura, Hiroyuki, Takahashi, Yuji, Tsuji, Shoji, Le Ber, Isabelle, Brice, Alexis, Drepper, Carsten, Williams, Nigel, Kirby, Janine, Shaw, Pamela, Hardy, John, Tienari, Pentti J, Heutink, Peter, Morris, Huw R, Pickering-Brown, Stuart, Traynor, Bryan J
Publicado 2012

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

por van der Lee, Sven J., Conway, Olivia J., Jansen, Iris, Carrasquillo, Minerva M., Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R., Stringa, Najada, Chen, Jason A., Zettergren, Anna, Andlauer, Till F. M., Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E., Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J., Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A., Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M., Indakoetxea, Begoña, Collij, Lyduine E., Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W., van Berckel, Bart N. M., Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L., Pastor, Pau, Rodríguez Rodríguez, Eloy, Boeve, Bradley F., Petersen, Ronald C., Ferman, Tanis J., van Gerpen, Jay A., Reinders, Marcel J. T., Uitti, Ryan J., Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K., van Schoor, Natasja M., Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K., Ross, Owen A., Dickson, Dennis W., Graff-Radford, Neill R., Knopman, David, Rademakers, Rosa, Lemstra, Afina W., Pijnenburg, Yolande A. L., Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Huisman, Martijn A., Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A., Sørensen, Thorkild I. A., Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, Clarimón, Jordi, Christensen, Kaare, Ertekin-Taner, Nilüfer, Scholz, Sonja W., Ramirez, Alfredo, Ruiz, Agustín, Slagboom, Eline, van der Flier, Wiesje M., Holstege, Henne
Publicado 2019