The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions

Por Keller, Lina, Welander, Hedvig, Chiang, Huei-Hsin, Tjernberg, Lars O, Nennesmo, Inger, Wallin, Åsa K, Graff, Caroline
Publicado em 2010

Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration

Por Chiang, Huei-Hsin, Forsell, Charlotte, Lilius, Lena, Öijerstedt, Linn, Thordardottir, Steinunn, Shanmugarajan, Krishnan, Westerlund, Marie, Nennesmo, Inger, Thonberg, Håkan, Graff, Caroline
Publicado em 2013

TMEM106B gene polymorphism is associated with age at onset in granulin mutation carriers and plasma granulin protein levels

Por Cruchaga, Carlos, Graff, Caroline, Chiang, Huei-Hsin, Wang, Jun, Hinrichs, Anthony L., Spiegel, Noah, Bertelsen, Sarah, Mayo, Kevin, Norton, Joanne B., Morris, John C., Goate, Alison
Publicado em 2011

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

Por Thonberg, Håkan, Chiang, Huei-Hsin, Lilius, Lena, Forsell, Charlotte, Lindström, Anna-Karin, Johansson, Charlotte, Björkström, Jenny, Thordardottir, Steinunn, Sleegers, Kristel, Van Broeckhoven, Christine, Rönnbäck, Annica, Graff, Caroline
Publicado no Acta Neuropathol Commun (2017)

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 no Hum Mutat (2015)

A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

Por van der Zee, Julie, Gijselinck, Ilse, Dillen, Lubina, Van Langenhove, Tim, Theuns, Jessie, Engelborghs, Sebastiaan, Philtjens, Stéphanie, Vandenbulcke, Mathieu, Sleegers, Kristel, Sieben, Anne, Bäumer, Veerle, Maes, Githa, Corsmit, Ellen, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Perneczky, Robert, Diehl-Schmid, Janine, de Mendonça, Alexandre, Miltenberger-Miltenyi, Gabriel, Pereira, Sónia, Pimentel, José, Nacmias, Benedetta, Bagnoli, Silvia, Sorbi, Sandro, Graff, Caroline, Chiang, Huei-Hsin, Westerlund, Marie, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Frisoni, Giovanni, Zanetti, Orazio, Bonvicini, Cristian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Heneka, Michael T, Jessen, Frank, Matej, Radoslav, Parobkova, Eva, Kovacs, Gabor G, Ströbel, Thomas, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Danek, Adrian, Arzberger, Thomas, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Santens, Patrick, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Van Broeckhoven, Christine
Publicado em 2013

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 em 2014

Frontotemporal dementia and its subtypes: a genome-wide association study

Por Ferrari, Raffaele, Hernandez, Dena G, Nalls, Michael A, Rohrer, Jonathan D, Ramasamy, Adaikalavan, Kwok, John B J, Dobson-Stone, Carol, Brooks, William S, Schofield, Peter R, Halliday, Glenda M, Hodges, John R, Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Haan, Eric, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cruchaga, Carlos, Cairns, Nigel J, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R A, Hsiung, Ging-Yuek R, Mann, David M A, Grafman, Jordan, Morris, Christopher M, Attems, Johannes, Griffiths, Timothy D, McKeith, Ian G, Thomas, Alan J, Pietrini, P, Huey, Edward D, Wassermann, Eric M, Baborie, Atik, Jaros, Evelyn, Tierney, Michael C, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, George-Hyslop, Peter St, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B, Schlachetzki, J C M, Uphill, James, Collinge, John, Mead, S, Danek, Adrian, Van Deerlin, Vivianna M, Grossman, Murray, Trojanowsk, John Q, van der Zee, Julie, Deschamps, William, Van Langenhove, Tim, Cruts, Marc, Van Broeckhoven, Christine, Cappa, Stefano F, Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E, Hjermind, Lena E, Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, Rossor, Martin N, Fox, Nick C, Warren, Jason D, Spillantini, Maria Grazia, Morris, Huw R, Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S, Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C, Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W, Graff-Radford, Neill R, Petersen, Ronald C, Knopman, David, Josephs, Keith A, Boeve, Bradley F, Parisi, Joseph E, Seeley, William W, Miller, Bruce L, Karydas, Anna M, Rosen, Howard, van Swieten, John C, Dopper, Elise G P, Seelaar, Harro, Pijnenburg, Yolande AL, Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A, Franceschi, M, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebert, Florence, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B, Hardy, John, Momeni, Parastoo
Publicado em 2014