Molecular Pathways Involved in Frontotemporal Lobar Degeneration with TDP-43 Proteinopathy: What Can We Learn from Proteomics?

por Mol, Merel O., Miedema, Suzanne S. M., van Swieten, John C., van Rooij, Jeroen G. J., Dopper, Elise G. P.
Publicado 2021

Presymptomatic and early pathological features of MAPT-associated frontotemporal lobar degeneration

por Giannini, Lucia AA, Mol, Merel O, Rajicic, Ana, van Buuren, Renee, Sarkar, Lana, Arezoumandan, Sanaz, Ohm, Daniel T, Irwin, David J, Rozemuller, Annemieke JM, van Swieten, John C, Seelaar, Harro
Publicado 2023

Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families

por Mol, Merel O., van der Lee, Sven J., Hulsman, Marc, Pijnenburg, Yolande A. L., Scheltens, Phillip, Seelaar, Harro, van Swieten, John C., Kaat, Laura Donker, Holstege, Henne, van Rooij, Jeroen G. J.
Publicado 2022

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

por Mol, Merel O., van Rooij, Jeroen G.J., Brusse, Esther, Verkerk, Annemieke J.M.H., Melhem, Shamiram, den Dunnen, Wilfred F.A., Rizzu, Patrizia, Cupidi, Chiara, van Swieten, John C., Donker Kaat, Laura
Publicado 2020

Proteomics of the dentate gyrus reveals semantic dementia specific molecular pathology

por Mol, Merel O., Miedema, Suzanne S. M., Melhem, Shamiram, Li, Ka Wan, Koopmans, Frank, Seelaar, Harro, Gottmann, Kurt, Lessmann, Volkmar, Bank, Netherlands Brain, Smit, August B., van Swieten, John C., van Rooij, Jeroen G. J.
Publicado 2022

Psychiatric symptoms of frontotemporal dementia and subcortical (co-)pathology burden: new insights

por Scarioni, Marta, Gami-Patel, Priya, Peeters, Carel F W, de Koning, Florianne, Seelaar, Harro, Mol, Merel O, van Swieten, John C, Rozemuller, Annemieke J M, Hoozemans, Jeroen J M, Pijnenburg, Yolande A L, Dijkstra, Anke A
Publicado 2022

Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia

por Mol, Merel O., Wong, Tsz H., Melhem, Shamiram, Basu, Sreya, Viscusi, Riccardo, Galjart, Niels, Rozemuller, Annemieke J.M., Fallini, Claudia, Landers, John E., Kaat, Laura Donker, Seelaar, Harro, van Rooij, Jeroen G.J., van Swieten, John C.
Publicado 2021

Somatic TARDBP variants as a cause of semantic dementia

por van Rooij, Jeroen, Mol, Merel O, Melhem, Shamiram, van der Wal, Pelle, Arp, Pascal, Paron, Francesca, Donker Kaat, Laura, Seelaar, Harro, Miedema, Suzanne S M, Oshima, Takuya, Eggen, Bart J L, Uitterlinden, André, van Meurs, Joyce, van Kesteren, Ronald E, Smit, August B, Buratti, Emanuele, van Swieten, John C
Publicado 2020

Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic...

por de Boer, Sterre C. M., Woolley, Lauren, Mol, Merel O., Serpente, Maria, Reus, Lianne M., van Minkelen, Rick, van Vugt, Joke F. A., Sorrentino, Federica, Veldink, Jan H., Seelaar, Harro, Galimberti, Daniela, van Ruissen, Fred, Mead, Simon, Rogaeva, Ekaterina, Pijnenburg, Yolande A. L., van der Lee, Sven J.
Publicado 2022

Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia

por Miedema, Suzanne S. M., Mol, Merel O., Koopmans, Frank T. W., Hondius, David C., van Nierop, Pim, Menden, Kevin, de Veij Mestdagh, Christina F., van Rooij, Jeroen, Ganz, Andrea B., Paliukhovich, Iryna, Melhem, Shamiram, Li, Ka Wan, Holstege, Henne, Rizzu, Patrizia, van Kesteren, Ronald E., van Swieten, John C., Heutink, Peter, Smit, August B.
Publicado 2022

The reporting of neuropsychiatric symptoms in electronic health records of individuals with Alzheimer’s disease: a natural language processing study

por Eikelboom, Willem S., Singleton, Ellen H., van den Berg, Esther, de Boer, Casper, Coesmans, Michiel, Goudzwaard, Jeannette A., Vijverberg, Everard G. B., Pan, Michel, Gouw, Cornalijn, Mol, Merel O., Gillissen, Freek, Fieldhouse, Jay L. P., Pijnenburg, Yolande A. L., van der Flier, Wiesje M., van Swieten, John C., Ossenkoppele, Rik, Kors, Jan A., Papma, Janne M.
Publicado 2023

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP

por Mol, Merel O., Nijmeijer, Sebastiaan W.R., van Rooij, Jeroen G. J., van Spaendonk, Resie M. L., Pijnenburg, Yolande A. L., van der Lee, Sven J., van Minkelen, Rick, Donker Kaat, Laura, Rozemuller, Annemieke J. M., Janse van Mantgem, Mark R., van Rheenen, Wouter, van Es, Michael A., Veldink, Jan H., Hennekam, Frederic A. M., Vernooij, Meike, van Swieten, John C., Cohn-Hokke, Petra E., Seelaar, Harro, Dopper, Elise G.P.
Publicado 2021

Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions

por Reus, Lianne M., Jansen, Iris E., Mol, Merel O., van Ruissen, Fred, van Rooij, Jeroen, van Schoor, Natasja M., Tesi, Niccolò, Reinders, Marcel J. T., Huisman, Martijn A., Holstege, Henne, Visser, Pieter Jelle, de Boer, Sterre C. M., Hulsman, Marc, Ahmad, Shahzad, Amin, Najaf, Uitterlinden, Andre G., Ikram, Arfan, van Duijn, Cornelia M., Seelaar, Harro, Ramakers, Inez H. G. B., Verhey, Frans R. J., van der Lugt, Aad, Claassen, Jurgen A. H. R., Jan Biessels, Geert, De Deyn, Peter Paul, Scheltens, Philip, van der Flier, Wiesje M., van Swieten, John C., Pijnenburg, Yolande A. L., van der Lee, Sven J.
Publicado 2021

C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

por Costa, Beatrice, Manzoni, Claudia, Bernal-Quiros, Manuel, Kia, Demis A., Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Andreassen, Ole, Anfossi, Maria, Bagnoli, Silvia, Benussi, Luisa, Bernardi, Livia, Binetti, Giuliano, Blackburn, Daniel, Boada, Mercè, Borroni, Barbara, Bowns, Lucy, Bråthen, Geir, Bruni, Amalia C., Chiang, Huei-Hsin, Clarimon, Jordi, Colville, Shuna, Conidi, Maria E., Cope, Tom E., Cruchaga, Carlos, Cupidi, Chiara, Di Battista, Maria Elena, Diehl-Schmid, Janine, Diez-Fairen, Monica, Dols-Icardo, Oriol, Durante, Elisabetta, Flisar, Dušan, Frangipane, Francesca, Galimberti, Daniela, Gallo, Maura, Gallucci, Maurizio, Ghidoni, Roberta, Graff, Caroline, Grafman, Jordan H., Grossman, Murray, Hardy, John, Hernández, Isabel, Holloway, Guy J.T., Huey, Edward D., Illán-Gala, Ignacio, Karydas, Anna, Khoshnood, Behzad, Kramberger, Milica G., Kristiansen, Mark, Lewis, Patrick A., Lleó, Alberto, Madhan, Gaganjit K., Maletta, Raffaele, Maver, Aleš, Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce, Mol, Merel O., Momeni, Parastoo, Moreno-Grau, Sonia, Morris, Chris M., Nacmias, Benedetta, Nilsson, Christer, Novelli, Valeria, Öijerstedt, Linn, Padovani, Alessandro, Pal, Suvankar, Panchbhaya, Yasmin, Pastor, Pau, Peterlin, Borut, Piaceri, Irene, Pickering-Brown, Stuart, Pijnenburg, Yolande A.L., Puca, Annibale A., Rainero, Innocenzo, Rendina, Antonella, Richardson, Anna M.T., Rogaeva, Ekaterina, Rogelj, Boris, Rollinson, Sara, Rossi, Giacomina, Rossmeier, Carola, Rowe, James B., Rubino, Elisa, Ruiz, Agustín, Sanchez-Valle, Raquel, Sando, Sigrid B., Santillo, Alexander F., Saxon, Jennifer, Scarpini, Elio, Serpente, Maria, Smirne, Nicoletta, Sorbi, Sandro, Suh, EunRan, Tagliavini, Fabrizio, Thompson, Jennifer C., Trojanowski, John Q., Van Deerlin, Vivianna M., Van der Zee, Julie, Van Broeckhoven, Christine, van Rooij, Jeroen, Van Swieten, John C., Veronesi, Arianna, Vitale, Emilia, Waldö, Maria L., Woodward, Cathy, Yokoyama, Jennifer, Escott-Price, Valentina, Polke, James M., Ferrari, Raffaele
Publicado 2020

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

por Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G. J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fernández, Maria Victoria, Fox, Nick C., Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Richard, Anne-Claire, Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S., Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo’, Tijms, Betty, Uitterlinden, André G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean-Charles
Publicado 2022

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

por Jansen, Iris E., van der Lee, Sven J., Gomez-Fonseca, Duber, de Rojas, Itziar, Dalmasso, Maria Carolina, Grenier-Boley, Benjamin, Zettergren, Anna, Mishra, Aniket, Ali, Muhammad, Andrade, Victor, Bellenguez, Céline, Kleineidam, Luca, Küçükali, Fahri, Sung, Yun Ju, Tesí, Niccolo, Vromen, Ellen M., Wightman, Douglas P., Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Amouyel, Philippe, Athanasiu, Lavinia, Bahrami, Shahram, Bailly, Henri, Belbin, Olivia, Bergh, Sverre, Bertram, Lars, Biessels, Geert Jan, Blennow, Kaj, Blesa, Rafael, Boada, Mercè, Boland, Anne, Buerger, Katharina, Carracedo, Ángel, Cervera-Carles, Laura, Chene, Geneviève, Claassen, Jurgen A. H. R., Debette, Stephanie, Deleuze, Jean-Francois, de Deyn, Peter Paul, Diehl-Schmid, Janine, Djurovic, Srdjan, Dols-Icardo, Oriol, Dufouil, Carole, Duron, Emmanuelle, Düzel, Emrah, Fladby, Tormod, Fortea, Juan, Frölich, Lutz, García-González, Pablo, Garcia-Martinez, Maria, Giegling, Ina, Goldhardt, Oliver, Gobom, Johan, Grimmer, Timo, Haapasalo, Annakaisa, Hampel, Harald, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Helisalmi, Seppo, Heneka, Michael T., Hernández, Isabel, Herukka, Sanna-Kaisa, Holstege, Henne, Jarholm, Jonas, Kern, Silke, Knapskog, Anne-Brita, Koivisto, Anne M., Kornhuber, Johannes, Kuulasmaa, Teemu, Lage, Carmen, Laske, Christoph, Leinonen, Ville, Lewczuk, Piotr, Lleó, Alberto, de Munain, Adolfo López, Lopez-Garcia, Sara, Maier, Wolfgang, Marquié, Marta, Mol, Merel O., Montrreal, Laura, Moreno, Fermin, Moreno-Grau, Sonia, Nicolas, Gael, Nöthen, Markus M., Orellana, Adelina, Pålhaugen, Lene, Papma, Janne M., Pasquier, Florence, Perneczky, Robert, Peters, Oliver, Pijnenburg, Yolande A. L., Popp, Julius, Posthuma, Danielle, Pozueta, Ana, Priller, Josef, Puerta, Raquel, Quintela, Inés, Ramakers, Inez, Rodriguez-Rodriguez, Eloy, Rujescu, Dan, Saltvedt, Ingvild, Sanchez-Juan, Pascual, Scheltens, Philip, Scherbaum, Norbert, Schmid, Matthias, Schneider, Anja, Selbæk, Geir, Selnes, Per, Shadrin, Alexey, Skoog, Ingmar, Soininen, Hilkka, Tárraga, Lluís, Teipel, Stefan, Tijms, Betty, Tsolaki, Magda, Van Broeckhoven, Christine, Van Dongen, Jasper, van Swieten, John C., Vandenberghe, Rik, Vidal, Jean-Sébastien, Visser, Pieter J., Vogelgsang, Jonathan, Waern, Margda, Wagner, Michael, Wiltfang, Jens, Wittens, Mandy M. J., Zetterberg, Henrik, Zulaica, Miren, van Duijn, Cornelia M., Bjerke, Maria, Engelborghs, Sebastiaan, Jessen, Frank, Teunissen, Charlotte E., Pastor, Pau, Hiltunen, Mikko, Ingelsson, Martin, Andreassen, Ole A., Clarimón, Jordi, Sleegers, Kristel, Ruiz, Agustín, Ramirez, Alfredo, Cruchaga, Carlos, Lambert, Jean-Charles, van der Flier, Wiesje
Publicado 2022