Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Merel O. Mol"'
Autor:
Willem S. Eikelboom, Ellen H. Singleton, Esther van den Berg, Casper de Boer, Michiel Coesmans, Jeannette A. Goudzwaard, Everard G. B. Vijverberg, Michel Pan, Cornalijn Gouw, Merel O. Mol, Freek Gillissen, Jay L. P. Fieldhouse, Yolande A. L. Pijnenburg, Wiesje M. van der Flier, John C. van Swieten, Rik Ossenkoppele, Jan A. Kors, Janne M. Papma
Publikováno v:
Alzheimer’s Research & Therapy, Vol 15, Iss 1, Pp 1-12 (2023)
Abstract Background Neuropsychiatric symptoms (NPS) are prevalent in the early clinical stages of Alzheimer’s disease (AD) according to proxy-based instruments. Little is known about which NPS clinicians report and whether their judgment aligns wit
Externí odkaz:
https://doaj.org/article/4d57b129f0664ccaaf7252152d89c039
Autor:
Merel O. Mol, Suzanne S. M. Miedema, Shamiram Melhem, Ka Wan Li, Frank Koopmans, Harro Seelaar, Kurt Gottmann, Volkmar Lessmann, Netherlands Brain Bank, August B. Smit, John C. van Swieten, Jeroen G. J. van Rooij
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-14 (2022)
Abstract Semantic dementia (SD) is a clinical subtype of frontotemporal dementia consistent with the neuropathological diagnosis frontotemporal lobar degeneration (FTLD) TDP type C, with characteristic round TDP-43 protein inclusions in the dentate g
Externí odkaz:
https://doaj.org/article/8c2d7e6c8ed449b1816eb6adb95fcab9
Autor:
Suzanne S. M. Miedema, Merel O. Mol, Frank T. W. Koopmans, David C. Hondius, Pim van Nierop, Kevin Menden, Christina F. de Veij Mestdagh, Jeroen van Rooij, Andrea B. Ganz, Iryna Paliukhovich, Shamiram Melhem, Ka Wan Li, Henne Holstege, Patrizia Rizzu, Ronald E. van Kesteren, John C. van Swieten, Peter Heutink, August B. Smit
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-20 (2022)
Abstract Frontotemporal dementia is characterized by progressive atrophy of frontal and/or temporal cortices at an early age of onset. The disorder shows considerable clinical, pathological, and genetic heterogeneity. Here we investigated the proteom
Externí odkaz:
https://doaj.org/article/3d65d481ed034fb3accf44dce1155278
Autor:
Merel O. Mol, Sven J. van der Lee, Marc Hulsman, Yolande A. L. Pijnenburg, Phillip Scheltens, Netherlands Brain Bank, Harro Seelaar, John C. van Swieten, Laura Donker Kaat, Henne Holstege, Jeroen G. J. van Rooij
Publikováno v:
Alzheimer’s Research & Therapy, Vol 14, Iss 1, Pp 1-14 (2022)
Abstract Background Many families with clinical early-onset Alzheimer’s disease (EOAD) remain genetically unexplained. A combination of genetic factors is not standardly investigated. In addition to monogenic causes, we evaluated the possible polyg
Externí odkaz:
https://doaj.org/article/c8e6a06105dd443495870162989bb619
Autor:
Sterre C. M. de Boer, Lauren Woolley, Merel O. Mol, Maria Serpente, Lianne M. Reus, Rick van Minkelen, Joke F. A. van Vugt, Federica Sorrentino, Jan H. Veldink, Harro Seelaar, Daniela Galimberti, Fred van Ruissen, Simon Mead, Ekaterina Rogaeva, Yolande A. L. Pijnenburg, Sven J. van der Lee
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-3 (2022)
Externí odkaz:
https://doaj.org/article/ee7ba3cbdcda4926a842389ce883cec9
Autor:
Lianne M. Reus, Iris E. Jansen, Merel O. Mol, Fred van Ruissen, Jeroen van Rooij, Natasja M. van Schoor, Niccolò Tesi, Marcel J. T. Reinders, Martijn A. Huisman, Henne Holstege, Pieter Jelle Visser, Sterre C. M. de Boer, Marc Hulsman, Shahzad Ahmad, Najaf Amin, Andre G. Uitterlinden, Arfan Ikram, Cornelia M. van Duijn, Harro Seelaar, Inez H. G. B. Ramakers, Frans R. J. Verhey, Aad van der Lugt, Jurgen A. H. R. Claassen, Geert Jan Biessels, Peter Paul De Deyn, Philip Scheltens, Wiesje M. van der Flier, John C. van Swieten, Yolande A. L. Pijnenburg, Sven J. van der Lee
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract Genetic factors play a major role in frontotemporal dementia (FTD). The majority of FTD cannot be genetically explained yet and it is likely that there are still FTD risk loci to be discovered. Common variants have been identified with genom
Externí odkaz:
https://doaj.org/article/c590880938b54bc184c9ea16e2a476f4
Autor:
Schramm, Catherine, Charbonnier, Camille, Zaréa, Aline, Lacour, Morgane, Wallon, David, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Alarcon, Flora, Campion, Dominique, Nuel, Grégory, Nicolas, Gaël, Collaborators Daniela Andriuta, Pierre, Anthony, Sophie, Auriacombe, Anna-Chloé, Balageas, Guillaume, Ballan, Mélanie, Barbay, Emilie, Beaufils, Yannick, Béjot, Serge, Belliard, Marie, Benaiteau, Karim, Bennys, Frédéric, Blanc, Stéphanie, Bombois, Claire Boutoleau Bretonnière, Pierre, Branger, Jasmine, Carlier, Leslie, Cartz-Piver, Pascaline, Cassagnaud, Giovanni, Castelnovo, Christine, Champion, Annabelle, Chaussenot, Mathieu, Ceccaldi, Valérie, Chauviré, Yaohua, Chen, Julien, Cogez, Emmanuel, Cognat, Fabienne, Contegal-Callier, Lea, Corneille, Philippe, Couratier, Hélène, Courtemanche, Benjamin, Cretin, Charlotte, Crinquette, Bernard, Croisille, Benjamin, Dauriat, Sophie, Dautricourt, Vincent de la Sayette, Astrid De Liège, Marie De Verdal, Didier, Deffond, Benoit, Delpont, Florence, Demurger, Vincent, Deramecourt, Céline, Derollez, Mira, Didic, Giulia, Diemert, Elsa, Dionet, Philippe, Diraison, Aude, Doan, Martine Doco Fenzy, Boris, Dufournet, Julien, Dumurgier, Hélène, Durand, Anas, Dutray, Frédérique, Etcharry-Bouyx, Maté, Formaglio, Audrey, Gabelle, Anne, Gainche-Salmon, Jean-Claude, Getenet, Emmanuelle, Ginglinger, Olivier, Godefroy, Mathilde, Graber, Chloé, Gregoire, Stephan, Grimaldi, Julien, Gueniat, Claude, Gueriot, Sophie, Haffen, Lorraine, Hamelin, Didier, Hannequin, Cezara, Hanta, Clémence, Hardy, Geoffroy, Hautecloque, Camille, Heitz, Claire, Hourregue, Thérèse, Jonveaux, Snejana, Jurici, Catia, Khoumri, Lejla, Koric, Pierre, Krolak-Salmon, Pierre, Labauge, Morgane, Lacour, Julien, Lagarde, Hélène-Marie, Lanoiselée, Brice, Laurens, Isabelle Le Ber, Gwenaël Le Guyader, Amélie, Leblanc, Thibaud, Lebouvier, Anas, Lippi, Marie-Anne, Mackowiak, Eloi, Magnin, Cecilia, Marelli, Olivier, Martinaud, Aurélien, Maureille, Emilie, Milongo-Rigal, Sophie, Mohr, Hélène, Mollion, Olivier, Moreaud, Alexandre, Morin, Gaël, Nicolas, Julia, Nivelle, Camille, Noiray, Elisabeth, Ollagnon-Roman, Claire, Paquet, Jérémie, Pariente, Florence, Pasquier, Alexandre, Perron, Nathalie, Philippi, Virginie, Pichon, Vincent, Planche, Céline, Poirsier, Marie, Rafiq, Pauline, Rod-Olivieri, Adeline, Rollin-Sillaire, Carole, Roué-Jagot, Dario, Saracino, Marie, Sarazin, Mathilde, Sauvée, François, Sellal, Lila Sirven Villaros, Christel, Thauvin, Camille, Tisserand, Christophe, Tomasino, Cédric, Turpinat, Laurène Van Damme, Olivier, Vercruysse, Alice, Voilly, Nathalie, Wagemann, David, Wallon, Aline, Zarea, Shahzad, Ahmad, Philippe, Amouyel, Claudine, Berr, Anne, Boland, Paola, Bossu, Femke, Bouwman, Jose, Bras, Dominique, Campion, Camille, Charbonnier, Jordi, Clarimon, Antonio, Daniele, Jean-François, Dartigues, Stéphanie, Debette, Jean-François, Deleuze, Nicola, Denning, Oriol, Dols-Icardo, Nick, C Fox, Daniela, Galimberti, Emmanuelle, Génin, Hans, Gille, Benjamin, Grenier-Boley, Detelina, Grozeva, Rita, Guerreiro, John, J Hardy, Clive, Holmes, Henne, Holstege, Marc, Hulsman, Holger, Hummerich, M Arfan Ikram, M Kamran Ikram, Iris, Jansen, Amit, Kawalia, Robert, Kraaij, Jean-Charles, Lambert, Marc, Lathrop, Afina, W Lemstra, Alberto, Lleo, Lauren, Luckcuck, Marcel M A, M Mannens, Rachel, Marshall, Carlo, Masullo, Simon, Mead, Mecocci, Patrizia, Alun, Meggy, Merel, O Mol, Kevin, Morgan, Benedetta, Nacmias, Penny, J Norsworthy, Pau, Pastor, Olivier, Quenez, Alfredo, Ramirez, Rachel, Raybould, Richard, Redon, Marcel J, T Reinders, Anne-Claire, Richard, Steffi, G Riedel-Heller, Fernando, Rivadeneira, Stéphane, Rousseau, Natalie, S Ryan, Salha, Saad, Pascual, Sanchez-Juan, Philip, Scheltens, Jonathan, M Schott, Davide, Seripa, Daoud, Sie, Rebecca, Sims, Erik, Sistermans, Sandro, Sorbi, Resie van Spaendonk, Gianfranco, Spalleta, Nicćolo, Tesi, Betty, Tijms, André, G Uitterlinden, Wiesje, M van der Flier, Sven, J van der Lee, Cornelia, M van Duijn, Jeroen G, J van Rooij, John, C van Swieten, Pieter, J de Visser, Michael, Wagner, Julie, Williams
Publikováno v:
Genome Medicine. 14
Background Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66cb56bad83f0110ef6fe33f625e5af5
https://doi.org/10.1186/s13073-022-01070-6
https://doi.org/10.1186/s13073-022-01070-6
Autor:
Annemieke J.M.H. Verkerk, Rick van Minkelen, Merel O. Mol, Laura Donker Kaat, Anneke J.A. Kievit, Shamiram Melhem, Jeroen van Rooij, Rosa Rademakers, Harro Seelaar, John C. van Swieten, Elise G.P. Dopper, Cyril Pottier, Tsz H. Wong
Publikováno v:
Neurobiology of aging
Neurobiology of Aging, 97, 148.e9-148.e16. Elsevier Inc.
Neurobiology of Aging, 97, 148.e9-148.e16. Elsevier Inc.
Frontotemporal dementia (FTD) presents with a wide variability in clinical syndromes, genetic etiologies, and underlying pathologies. Despite the discovery of pathogenic variants in several genes, many familial cases remain unsolved. In a large FTD c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f03d6e98342715d34a7661e046faf28
https://doi.org/10.1016/j.neurobiolaging.2020.07.014
https://doi.org/10.1016/j.neurobiolaging.2020.07.014
Autor:
Joyce B. J. van Meurs, Takuya Oshima, Harro Seelaar, John C. van Swieten, André G. Uitterlinden, Netherlands Brain Bank, August B. Smit, Ronald E. van Kesteren, Bart J. L. Eggen, Laura Donker Kaat, Francesca Paron, Shamiram Melhem, Suzanne S M Miedema, Pascal P. Arp, Jeroen van Rooij, Merel O. Mol, Pelle van der Wal, Emanuele Buratti
Publikováno v:
Brain, 143, 3827-3841. Oxford University Press
Brain, 143(12), 3827-3841. Oxford University Press
van Rooij, J, Mol, M, Melhem, S, van der Wal, P, Arp, P, Paron, F, Donker Kaat, L, Seelaar, H, Brain Bank, N, Miedema, S S M, Oshima, T, Eggen, B J, Uitterlinden, A G, van Meurs, J B J, van Kesteren, RE, Smit, A B, Buratti, E & van Swieten, J C 2020, ' Somatic TARDBP variants as a cause of semantic dementia ', Brain, vol. 143, no. 12, pp. 3827-3841 . https://doi.org/10.1093/brain/awaa317
Brain
Brain, 143(12), 3827-3841. Oxford University Press
van Rooij, J, Mol, M, Melhem, S, van der Wal, P, Arp, P, Paron, F, Donker Kaat, L, Seelaar, H, Brain Bank, N, Miedema, S S M, Oshima, T, Eggen, B J, Uitterlinden, A G, van Meurs, J B J, van Kesteren, RE, Smit, A B, Buratti, E & van Swieten, J C 2020, ' Somatic TARDBP variants as a cause of semantic dementia ', Brain, vol. 143, no. 12, pp. 3827-3841 . https://doi.org/10.1093/brain/awaa317
Brain
Could somatic variants arising during brain development give rise to non-hereditary neurodegenerative disease? By sequencing DNA from brain tissue and blood from the same semantic dementia patients, van Rooij et al. identify brain-specific somatic TA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef967f61b2d610ca0810629d5399f19
https://doi.org/10.1093/brain/awaa317
https://doi.org/10.1093/brain/awaa317
Autor:
Janne M. Papma, Harro Seelaar, E. van den Berg, Merel O. Mol, Yolande A.L. Pijnenburg, J. C. van Swieten, Jackie M. Poos, Lieke H.H. Meeter, F. J. de Jong, L. Donker Kaat, Lize C. Jiskoot, E. L. van der Ende, Sophie M.J. Leijdesdorff, Jessica L. Panman
Publikováno v:
Journal of Neurology, 267(6), 1603-1612. D. Steinkopff-Verlag
Poos, J M, Jiskoot, L C, Leijdesdorff, S M J, Seelaar, H, Panman, J L, van der Ende, E L, Mol, M O, Meeter, L H H, Pijnenburg, Y A L, Donker Kaat, L, de Jong, F J, van Swieten, J C, Papma, J M & van den Berg, E 2020, ' Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia ', Journal of Neurology, vol. 267, no. 6, pp. 1603-1612 . https://doi.org/10.1007/s00415-020-09738-y
Journal of Neurology, 267(6), 1603-1612. Springer
Poos, J M, Jiskoot, L C, Leijdesdorff, S M J, Seelaar, H, Panman, J L, van der Ende, E L, Mol, M O, Meeter, L H H, Pijnenburg, Y A L, Donker Kaat, L, de Jong, F J, van Swieten, J C, Papma, J M & van den Berg, E 2020, ' Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia ', Journal of Neurology, vol. 267, no. 6, pp. 1603-1612 . https://doi.org/10.1007/s00415-020-09738-y
Journal of Neurology, 267(6), 1603-1612. Springer
Introduction Trials to test disease-modifying treatments for frontotemporal dementia are eagerly awaited and sensitive instruments to assess potential treatment effects are increasingly urgent, yet lacking thus far. We aimed to identify gene-specific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef72428ca1cb983787f40a0800079aa
https://doi.org/10.1007/s00415-020-09738-y
https://doi.org/10.1007/s00415-020-09738-y