Unfolded protein response activation in C9orf72 frontotemporal dementia is associated with dipeptide pathology and granulovacuolar degeneration in granule cells

Authors: Gami‐Patel, Priya, Dijken, Irene, Meeter, Lieke H., Melhem, Shamiram, Morrema, Tjado H. J., Scheper, Wiep, Swieten, John C., Rozemuller, Annemieke J. M., Dijkstra, Anke A., Hoozemans, Jeroen J. M.

Source: Brain pathology. 31(1):163-173

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Connecting dementia risk loci to the CSF proteome identifies pathophysiological leads for dementia.

Authors: Reus, Lianne M^1,2,3, l.reus@amsterdamumc.nl, Jansen, Iris E^1,2,4, Tijms, Betty M^1,2, Visser, Pieter Jelle^1,2,5, Tesi, Niccoló^1,2,6, Lee, Sven J van der^1,2,6, Vermunt, Lisa^1,2,7, Peeters, Carel F W⁸, Groot, Lisa A De^1,2, Hok-A-Hin, Yanaika S⁷, Chen-Plotkin, Alice⁹, Irwin, David J⁹, Hu, William T^10,11, Meeter, Lieke H¹², Swieten, John C van¹², Holstege, Henne^1,2,6, Hulsman, Marc^1,2,6, Lemstra, Afina W^1,2, Pijnenburg, Yolande A L^1,2, Flier, Wiesje M van der^1,2

Source: Brain: A Journal of Neurology; Oct2024, Vol. 147 Issue 10, p3522-3533, 12p

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Authors: Heller, Carolin, Convery, Rhian S, Woollacott, Ione OC, Shafei, Rachelle M, Graff-Radford, Jonathan, Jones, David T, Dheel, Christina M, Savica, Rodolfo, Lapid, Maria I, Baker, Matt, Fields, Julie A, Gavrilova, Ralitza, Domoto-Reilly, Kimiko, Poos, Jackie M, Van der Ende, Emma L, Panman, Jessica L, Donker Kaat, Laura, Seelaar, Harro, Richardson, Anna, Frisoni, Giovanni, Mega, Anna, Fostinelli, Silvia, Chiang, Huei-Hsin, Alberici, Antonella, Arighi, Andrea, Fenoglio, Chiara, Heuer, Hilary, Miller, Bruce, Karydas, Anna, Fong, Jamie, João Leitão, Maria, Santiago, Beatriz, Duro, Diana, Ferreira, Carlos, Gabilondo, Alazne, De Arriba, Maria, Tainta, Mikel, Zulaica, Miren, Ferreira, Catarina, Semler, Elisa, Ludolph, Albert, Landwehrmeyer, Bernhard, Volk, Alexander E, Miltenberger, Gabriel, Verdelho, Ana, Afonso, Sónia, Tartaglia, Maria Carmela, Freedman, Morris, Rogaeva, Ekaterina, Ferrari, Camilla, Piaceri, Irene, Bessi, Valentina, Lombardi, Gemma, St-Onge, Frédéric, Doré, Marie-Claire, Bruffaerts, Rose, Vandenbulcke, Mathieu, Van den Stock, Jan, Mesulam, M Marsel, Bigio, Eileen, Koros, Christos, Papatriantafyllou, John, Kroupis, Christos, Stefanis, Leonidas, Shoesmith, Christien, Robertson, Erik, Coppola, Giovanni, Da Silva Ramos, Eliana Marisa, Geschwind, Daniel, Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Jr, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita, Bras, Jose, Rohrer, Jonathan D ^*

Source: In The Lancet Neurology February 2020 19(2):145-156

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

Authors: Rossor, Martin N., Warren, Jason D., Fox, Nick C., Woollacott, Ione O.C., Shafei, Rachelle, Greaves, Caroline, Guerreiro, Rita, Bras, Jose, Thomas, David L., Nicholas, Jennifer, Mead, Simon, van Minkelen, Rick, Barandiaran, Myriam, Indakoetxea, Begoña, Gabilondo, Alazne, Tainta, Mikel, de Arriba, Maria, Gorostidi, Ana, Zulaica, Miren, Villanua, Jorge, Diaz, Zigor, Borrego-Ecija, Sergi, Olives, Jaume, Lladó, Albert, Balasa, Mircea, Antonell, Anna, Bargallo, Nuria, Premi, Enrico, Cosseddu, Maura, Gazzina, Stefano, Padovani, Alessandro, Gasparotti, Roberto, Archetti, Silvana, Black, Sandra, Mitchell, Sara, Rogaeva, Ekaterina, Freedman, Morris, Keren, Ron, Tang-Wai, David, Öijerstedt, Linn, Andersson, Christin, Jelic, Vesna, Thonberg, Hakan, Arighi, Andrea, Fenoglio, Chiara, Scarpini, Elio, Fumagalli, Giorgio, Cope, Thomas, Timberlake, Carolyn, Rittman, Timothy, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Wilke, Carlo, Karnath, Hans-Otto, Bender, Benjamin, Bruffaerts, Rose, Vandamme, Philip, Vandenbulcke, Mathieu, Ferreira, Catarina B., Miltenberger, Gabriel, Maruta, Carolina, Verdelho, Ana, Afonso, Sónia, Taipa, Ricardo, Caroppo, Paola, Di Fede, Giuseppe, Giaccone, Giorgio, Prioni, Sara, Redaelli, Veronica, Rossi, Giacomina, Tiraboschi, Pietro, Duro, Diana, Rosario Almeida, Maria, Castelo-Branco, Miguel, João Leitão, Maria, Tabuas-Pereira, Miguel, Santiago, Beatriz, Gauthier, Serge, Schonecker, Sonja, Semler, Elisa, Anderl-Straub, Sarah, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Pievani, Michela, Lombardi, Gemma, Nacmias, Benedetta, Ferrari, Camilla, Bessi, Valentina, van der Ende, Emma L, Meeter, Lieke H, Poos, Jackie M, Panman, Jessica L, Jiskoot, Lize C, Dopper, Elise G P, Papma, Janne M, de Jong, Frank Jan, Verberk, Inge M W, Teunissen, Charlotte, Rizopoulos, Dimitris, Heller, Carolin, Convery, Rhian S, Moore, Katrina M, Bocchetta, Martina, Neason, Mollie, Cash, David M, Borroni, Barbara, Galimberti, Daniela, Sanchez-Valle, Raquel, Laforce, Robert, Jr, Moreno, Fermin, Synofzik, Matthis, Graff, Caroline, Masellis, Mario, Carmela Tartaglia, Maria, Rowe, James B, Vandenberghe, Rik, Finger, Elizabeth, Tagliavini, Fabrizio, de Mendonça, Alexandre, Santana, Isabel, Butler, Chris, Ducharme, Simon, Gerhard, Alex, Danek, Adrian, Levin, Johannes, Otto, Markus, Frisoni, Giovanni B, Cappa, Stefano, Pijnenburg, Yolande A L, Rohrer, Jonathan D, van Swieten, John C ^*

Source: In The Lancet Neurology December 2019 18(12):1103-1111

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Authors: Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita, Bras, Jose, Rohrer, Jonathan D

Source: Lancet neurology. 19(2):145-156

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Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

Authors: van der Ende, Emma L, Meeter, Lieke H, Poos, Jackie M, Panman, Jessica L, Jiskoot, Lize C, Dopper, Elise G P, Papma, Janne M, de Jong, Frank Jan, Verberk, Inge M W, Teunissen, Charlotte, Rizopoulos, Dimitris, Heller, Carolin, Convery, Rhian S, Moore, Katrina M, Bocchetta, Martina, Neason, Mollie, Cash, David M, Borroni, Barbara, Galimberti, Daniela, Sanchez-Valle, Raquel, Laforce, Robert, Moreno, Fermin, Synofzik, Matthis, Graff, Caroline, Masellis, Mario, Carmela Tartaglia, Maria, Rowe, James B, Vandenberghe, Rik, Finger, Elizabeth, Tagliavini, Fabrizio, de Mendonça, Alexandre, Santana, Isabel, Butler, Chris, Ducharme, Simon, Gerhard, Alex, Danek, Adrian, Levin, Johannes, Otto, Markus, Frisoni, Giovanni B, Cappa, Stefano, Pijnenburg, Yolande A L, Rohrer, Jonathan D, van Swieten, John C

Source: Lancet neurology. 18(12):1103-1111

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CSF placental growth factor – a novel candidate biomarker of frontotemporal dementia

Authors: Hansson, Oskar, Santillo, Alexander F., Meeter, Lieke H., Nilsson, Karin, Landqvist Waldö, Maria, Nilsson, Christer, Blennow, Kaj, Swieten, John C., Janelidze, Shorena

Source: Annals of clinical and translational neurology. 6(5):863-872

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Novel CSF biomarkers in genetic frontotemporal dementia identified by proteomics

Authors: Ende, Emma L., Meeter, Lieke H., Stingl, Christoph, Rooij, Jeroen G. J., Stoop, Marcel P., Nijholt, Diana A. T., Sanchez‐Valle, Raquel, Graff, Caroline, Öijerstedt, Linn, Grossman, Murray, McMillan, Corey, Pijnenburg, Yolande A. L., Laforce, Robert, Binetti, Giuliano, Benussi, Luisa, Ghidoni, Roberta, Luider, Theo M., Seelaar, Harro, Swieten, John C.

Source: Annals of clinical and translational neurology. 6(4):698-707

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Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia

Authors: Jiskoot, Lize C., Panman, Jessica L., van Asseldonk, Lauren, Franzen, Sanne, Meeter, Lieke H. H., Donker Kaat, Laura, van der Ende, Emma L., Dopper, Elise G. P., Timman, Reinier, van Minkelen, Rick, van Swieten, John C., van den Berg, Esther, Papma, Janne M.

Source: Journal of neurology. 265(6):1381-1392

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Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross‐sectional diffusion tensor imaging study

Authors: Jiskoot, Lize C., Bocchetta, Martina, Nicholas, Jennifer M., Cash, David M., Thomas, David, Modat, Marc, Ourselin, Sebastien, Rombouts, Serge A.R.B., Dopper, Elise G.P., Meeter, Lieke H., Panman, Jessica L., Minkelen, Rick, Ende, Emma L., Donker Kaat, Laura, Pijnenburg, Yolande A.L., Borroni, Barbara, Galimberti, Daniela, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James, Graff, Caroline, Tagliavini, Fabrizio, Frisoni, Giovanni B., Laforce, Robert, Finger, Elizabeth, Mendonça, Alexandre, Sorbi, Sandro, Papma, Janne M., Swieten, John C., Rohrer, Jonathan D., Andersson, Christin, Archetti, Silvana, Arighi, Andrea, Benussi, Luisa, Black, Sandra, Cosseddu, Maura, Fallström, Marie, Ferreira, Carlos, Fenoglio, Chiara, Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Gazzina, Stefano, Ghidoni, Roberta, Grisoli, Marina, Jelic, Vesna, Keren, Ron, Lombardi, Gemma, Maruta, Carolina, Mead, Simon, Nacmias, Benedetta, Öijerstedt, Linn, Padovani, Alessandro, Pievani, Michela, Polito, Cristina, Premi, Enrico, Prioni, Sara, Rademakers, Rosa, Rogaeva, Ekaterina, Rossi, Giacomina, Rossor, Martin, Scarpini, Elio, Tang‐Wai, David, Thonberg, Hakan, Tiraboschi, Pietro, Verdelho, Ana, Warren, Jason

Source: Annals of clinical and translational neurology. 5(9):1025-1036

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Serum neurofilament light chain in progressive supranuclear palsy

Authors: Donker Kaat, Laura, Meeter, Lieke H., Chiu, Wan Zheng, Melhem, Shami, Boon, Agnita J.W., Blennow, Kaj, Zetterberg, Henrik, van Swieten, John C.

Source: Parkinsonism & related disorders. 56:98-101

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Distinctive cell‐free DNA methylation characterizes presymptomatic genetic frontotemporal dementia.

Authors: Giannini, Lucia A. A., Boers, Ruben G., van der Ende, Emma L., Poos, Jackie M., Jiskoot, Lize C., Boers, Joachim B., van IJcken, Wilfred F. J., Dopper, Elise G., Pijnenburg, Yolande A. L., Seelaar, Harro, Meeter, Lieke H., van Rooij, Jeroen G. J., Scheper, Wiep, Gribnau, Joost, van Swieten, John C.

Source: Annals of Clinical & Translational Neurology; Mar2024, Vol. 11 Issue 3, p744-756, 13p

Subject Terms: CELL-free DNA, FRONTOTEMPORAL dementia, DNA methylation, GENETIC carriers, BRAIN damage, CIRCULATING tumor DNA

Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study.

Authors: van der Ende, Emma L., Heller, Carolin, Sogorb-Esteve, Aitana, Swift, Imogen J., McFall, David, Peakman, Georgia, Bouzigues, Arabella, Poos, Jackie M., Jiskoot, Lize C., Panman, Jessica L., Papma, Janne M., Meeter, Lieke H., Dopper, Elise G. P., Bocchetta, Martina, Todd, Emily, Cash, David, Graff, Caroline, Synofzik, Matthis, Moreno, Fermin, Finger, Elizabeth

Source: Journal of Neuroinflammation; 9/5/2022, Vol. 19 Issue 1, p1-13, 13p

Subject Terms: FRONTOTEMPORAL dementia, BLOOD proteins, GLIAL fibrillary acidic protein, FRONTOTEMPORAL lobar degeneration, CEREBROSPINAL fluid, CIRCULATING tumor DNA, COMPLEMENT (Immunology), PICK'S disease of the brain, RESEARCH funding, LONGITUDINAL method

A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia.

Authors: Ende, Emma L van der¹, Bron, Esther E², Poos, Jackie M¹, Jiskoot, Lize C¹, Panman, Jessica L¹, Papma, Janne M¹, Meeter, Lieke H¹, Dopper, Elise G P¹, Wilke, Carlo^3,4, Synofzik, Matthis^3,4, Heller, Carolin⁵, Swift, Imogen J⁵, Sogorb-Esteve, Aitana^5,6, Bouzigues, Arabella⁶, Borroni, Barbara⁷, Sanchez-Valle, Raquel⁸, Moreno, Fermin^9,10, Graff, Caroline^11,12, Laforce, Robert¹³, Galimberti, Daniela^14,15

Source: Brain: A Journal of Neurology; May2022, Vol. 145 Issue 5, p1805-1817, 13p

Modelling the cascade of biomarker changes in -related frontotemporal dementia.

Authors: Panman, Jessica L., Venkatraghavan, Vikram, van der Ende, Emma L., Steketee, Rebecca M. E., Jiskoot, Lize C., Poos, Jackie M., Dopper, Elise G. P., Meeter, Lieke H. H., Kaat, Laura Donker, Rombouts, Serge A. R. B., Vernooij, Meike W., Kievit, Anneke J. A., Premi, Enrico, Cosseddu, Maura, Bonomi, Elisa, Olives, Jaume, Rohrer, Jonathan D., Sánchez-Valle, Raquel, Borroni, Barbara, Bron, Esther E.

Source: Journal of Neurology, Neurosurgery & Psychiatry; May2021, Vol. 92 Issue 5, p494-501, 8p

Subject Terms: FRONTOTEMPORAL lobar degeneration, FRONTOTEMPORAL dementia, BIOMARKERS, HUNTINGTON disease, MEDICAL ethics, DIFFUSION tensor imaging, GRAY matter (Nerve tissue), BRAIN, DISEASE progression, RESEARCH, GENETIC mutation, NERVE tissue proteins, RESEARCH methodology, COGNITION, MAGNETIC resonance imaging, LANGUAGE & languages, MEDICAL cooperation, EVALUATION research, NEUROPSYCHOLOGICAL tests, COMPARATIVE studies, RESEARCH funding, PHENOTYPES

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Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia.

Authors: van der Ende, Emma L., Meifang Xiao, Desheng Xu, Poos, Jackie M., Panman, Jessica L., Jiskoot, Lize C., Meeter, Lieke H., Dopper, Elise G. P., Papma, Janne M., Heller, Carolin, Convery, Rhian, Moore, Katrina, Bocchetta, Martina, Neason, Mollie, Peakman, Georgia, Cash, David M., Teunissen, Charlotte E., Graff, Caroline, Synofzik, Matthis, Moreno, Fermin

Source: Journal of Neurology, Neurosurgery & Psychiatry; Jun2020, Vol. 91 Issue 6, p612-621, 10p, 3 Charts, 5 Graphs

Subject Terms: C-reactive protein, DISEASE progression, RESEARCH, NERVE tissue proteins, RESEARCH methodology, EVALUATION research, MEDICAL cooperation, GENETIC carriers, COMPARATIVE studies, RESEARCH funding, FRONTOTEMPORAL dementia

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CSF proteome profiling identifies novel biomarkers for Frontotemporal Dementia and its pathological subtypes.

Authors: Hok‐A‐Hin, Yanaika S., Vermunt, Lisa, Peeters, Carel F.W., van der Ende, Emma L., de Boer, Sterre C.M., Meeter, Lieke H., van Swieten, John C., Hu, William T., Lleó, Alberto, Alcolea, Daniel, Engelborghs, Sebastiaan, Sieben, Anne, Chen‐Plotkin, Alice, Irwin, David J., van der Flier, Wiesje M., Pijnenburg, Yolande A.L., Teunissen, Charlotte E., del Campo, Marta

Source: Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Dec2023 Supplement 14, Vol. 19, p1-2, 2p