Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Relationship between C9orf72 repeat size and clinical phenotype
Van Mossevelde, Sara, van der Zee, Julie, Cruts, Marc, Van Broeckhoven, Christine
Published in Current opinion in genetics & development (01.06.2017)
Published in Current opinion in genetics & development (01.06.2017)
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TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis
Kleinberger, Gernot, Yamanishi, Yoshinori, Suárez-Calvet, Marc, Czirr, Eva, Lohmann, Ebba, Cuyvers, Elise, Struyfs, Hanne, Pettkus, Nadine, Wenninger-Weinzierl, Andrea, Mazaheri, Fargol, Tahirovic, Sabina, Lleó, Alberto, Alcolea, Daniel, Fortea, Juan, Willem, Michael, Lammich, Sven, Molinuevo, José L, Sánchez-Valle, Raquel, Antonell, Anna, Ramirez, Alfredo, Heneka, Michael T, Sleegers, Kristel, van der Zee, Julie, Martin, Jean-Jacques, Engelborghs, Sebastiaan, Demirtas-Tatlidede, Asli, Zetterberg, Henrik, Van Broeckhoven, Christine, Gurvit, Hakan, Wyss-Coray, Tony, Hardy, John, Colonna, Marco, Haass, Christian
Published in Science translational medicine (02.07.2014)
Published in Science translational medicine (02.07.2014)
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Journal Article
Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis
Götzl, Julia K., Mori, Kohji, Damme, Markus, Fellerer, Katrin, Tahirovic, Sabina, Kleinberger, Gernot, Janssens, Jonathan, van der Zee, Julie, Lang, Christina M., Kremmer, Elisabeth, Martin, Jean-Jacques, Engelborghs, Sebastiaan, Kretzschmar, Hans A., Arzberger, Thomas, Van Broeckhoven, Christine, Haass, Christian, Capell, Anja
Published in Acta neuropathologica (01.06.2014)
Published in Acta neuropathologica (01.06.2014)
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Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases
Perrone, Federica, Cacace, Rita, van der Zee, Julie, Van Broeckhoven, Christine
Published in Genome medicine (14.04.2021)
Published in Genome medicine (14.04.2021)
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Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth
Schmid, Bettina, Hruscha, Alexander, Hogl, Sebastian, Banzhaf-Strathmann, Julia, Strecker, Katrin, van der Zee, Julie, Teucke, Mathias, Eimer, Stefan, Hegermann, Jan, Kittelmann, Maike, Kremmer, Elisabeth, Cruts, Marc, Solchenberger, Barbara, Hasenkamp, Laura, van Bebber, Frauke, Van Broeckhoven, Christine, Edbauer, Dieter, Lichtenthaler, Stefan F., Haass, Christian
Published in Proceedings of the National Academy of Sciences - PNAS (26.03.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (26.03.2013)
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Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease
Rosas, Irene, Martínez, Carmen, Clarimón, Jordi, Lleó, Alberto, Illán-Gala, Ignacio, Dols-Icardo, Oriol, Borroni, Barbara, Almeida, Maria Rosário, van der Zee, Julie, Van Broeckhoven, Christine, Bruni, Amalia C., Anfossi, Maria, Bernardi, Livia, Maletta, Raffaele, Serpente, María, Galimberti, Daniela, Scarpini, Elio, Rossi, Giacomina, Caroppo, Paola, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Nacmias, Benedetta, Sorbi, Sandro, Piaceri, Irene, Bagnoli, Silvia, Antonell, Anna, Sánchez-Valle, Raquel, De la Casa-Fages, Beatriz, Grandas, Francisco, Diez-Fairen, Mónica, Pastor, Pau, Ferrari, Raffaele, Álvarez, Victoria, Menéndez-González, Manuel
Published in Neurobiology of aging (01.03.2020)
Published in Neurobiology of aging (01.03.2020)
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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
Perrone, Federica, Nguyen, Hung Phuoc, Van Mossevelde, Sara, Moisse, Matthieu, Sieben, Anne, Santens, Patrick, De Bleecker, Jan, Vandenbulcke, Mathieu, Engelborghs, Sebastiaan, Baets, Jonathan, Cras, Patrick, Vandenberghe, Rik, De Jonghe, Peter, De Deyn, Peter P, Martin, Jean-Jacques, Van Damme, Philip, Van Broeckhoven, Christine, van der Zee, Julie
Published in Neurobiology of aging (01.03.2017)
Published in Neurobiology of aging (01.03.2017)
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Serum biomarker for progranulin-associated frontotemporal lobar degeneration
Sleegers, Kristel, Brouwers, Nathalie, Van Damme, Philip, Engelborghs, Sebastiaan, Gijselinck, Ilse, van der Zee, Julie, Peeters, Karin, Mattheijssens, Maria, Cruts, Marc, Vandenberghe, Rik, De Deyn, Peter P., Robberecht, Wim, Van Broeckhoven, Christine
Published in Annals of neurology (01.05.2009)
Published in Annals of neurology (01.05.2009)
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NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients
Nguyen, Hung Phuoc, Van Mossevelde, Sara, Dillen, Lubina, De Bleecker, Jan L., Moisse, Matthieu, Van Damme, Philip, Van Broeckhoven, Christine, van der Zee, Julie, Engelborghs, Sebastiaan, Crols, Roeland, De Deyn, Peter P., De Jonghe, Peter, Baets, Jonathan, Cras, Patrick, Mercelis, Rudy, Vandenberghe, Rik, Sieben, Anne, Santens, Patrick, Ivanoiu, Adrian, Deryck, Olivier, Vanopdenbosch, Ludo, Delbeck, Jean
Published in Neurobiology of aging (01.01.2018)
Published in Neurobiology of aging (01.01.2018)
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Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study
Le Ber, Isabelle, Camuzat, Agnès, Hannequin, Didier, Pasquier, Florence, Guedj, Eric, Rovelet-Lecrux, Anne, Hahn-Barma, Valérie, van der Zee, Julie, Clot, Fabienne, Bakchine, Serge, Puel, Michèle, Ghanim, Mustapha, Lacomblez, Lucette, Mikol, Jacqueline, Deramecourt, Vincent, Lejeune, Pascal, de la Sayette, Vincent, Belliard, Serge, Vercelletto, Martine, Meyrignac, Christian, Van Broeckhoven, Christine, Lambert, Jean-Charles, Verpillat, Patrice, Campion, Dominique, Habert, Marie-Odile, Dubois, Bruno, Brice, Alexis
Published in Brain (London, England : 1878) (01.03.2008)
Published in Brain (London, England : 1878) (01.03.2008)
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Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis
van der Zee, Julie, Dillen, Lubina, Baradaran-Heravi, Yalda, Gossye, Helena, Koçoğlu, Cemile, Cuyt, Ivy, Dermaut, Bart, Sieben, Anne, Baets, Jonathan, De Jonghe, Peter, Vandenberghe, Rik, De Deyn, Peter, Cras, Patrick, Engelborghs, Sebastiaan, Van Broeckhoven, Christine
Published in Neurobiology of disease (01.08.2021)
Published in Neurobiology of disease (01.08.2021)
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Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene
Benussi, Luisa, Longobardi, Antonio, Kocoglu, Cemile, Carrara, Matteo, Bellini, Sonia, Ferrari, Clarissa, Nicsanu, Roland, Saraceno, Claudia, Bonvicini, Cristian, Fostinelli, Silvia, Zanardini, Roberta, Catania, Marcella, Moisse, Matthieu, Van Damme, Philip, Di Fede, Giuseppe, Binetti, Giuliano, Van Broeckhoven, Christine, van der Zee, Julie, Ghidoni, Roberta
Published in International journal of molecular sciences (20.12.2021)
Published in International journal of molecular sciences (20.12.2021)
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FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
Urwin, Hazel, Josephs, Keith A., Rohrer, Jonathan D., Mackenzie, Ian R., Neumann, Manuela, Authier, Astrid, Seelaar, Harro, Van Swieten, John C., Brown, Jeremy M., Johannsen, Peter, Nielsen, Jorgen E., Holm, Ida E., Dickson, Dennis W., Rademakers, Rosa, Graff-Radford, Neill R., Parisi, Joseph E., Petersen, Ronald C., Hatanpaa, Kimmo J., White III, Charles L., Weiner, Myron F., Geser, Felix, Van Deerlin, Vivianna M., Trojanowski, John Q., Miller, Bruce L., Seeley, William W., van der Zee, Julie, Kumar-Singh, Samir, Engelborghs, Sebastiaan, De Deyn, Peter P., Van Broeckhoven, Christine, Bigio, Eileen H., Deng, Han-Xiang, Halliday, Glenda M., Kril, Jillian J., Munoz, David G., Mann, David M., Pickering-Brown, Stuart M., Doodeman, Valerie, Adamson, Gary, Ghazi-Noori, Shabnam, Fisher, Elizabeth M. C., Holton, Janice L., Revesz, Tamas, Rossor, Martin N., Collinge, John, Mead, Simon, Isaacs, Adrian M.
Published in Acta neuropathologica (01.07.2010)
Published in Acta neuropathologica (01.07.2010)
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Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration
Goossens, Joery, Bjerke, Maria, Van Mossevelde, Sara, Van den Bossche, Tobi, Goeman, Johan, De Vil, Bart, Sieben, Anne, Martin, Jean-Jacques, Cras, Patrick, De Deyn, Peter Paul, Van Broeckhoven, Christine, van der Zee, Julie, Engelborghs, Sebastiaan
Published in Alzheimer's research & therapy (20.03.2018)
Published in Alzheimer's research & therapy (20.03.2018)
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Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity
Parobkova, Eva, van der Zee, Julie, Dillen, Lubina, Van Broeckhoven, Christine, Rusina, Robert, Matej, Radoslav
Published in Frontiers in neurology (30.11.2020)
Published in Frontiers in neurology (30.11.2020)
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Subclinical epileptiform activity in the Alzheimer continuum: association with disease, cognition and detection method
Nous, Amber, Seynaeve, Laura, Feys, Odile, Wens, Vincent, De Tiège, Xavier, Van Mierlo, Pieter, Baroumand, Amir G, Nieboer, Koenraad, Allemeersch, Gert-Jan, Mangelschots, Shana, Michiels, Veronique, van der Zee, Julie, Van Broeckhoven, Christine, Ribbens, Annemie, Houbrechts, Ruben, De Witte, Sara, Wittens, Mandy Melissa Jane, Bjerke, Maria, Vanlersberghe, Caroline, Ceyssens, Sarah, Nagels, Guy, Smolders, Ilse, Engelborghs, Sebastiaan
Published in Alzheimer's research & therapy (23.01.2024)
Published in Alzheimer's research & therapy (23.01.2024)
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Alzheimer and Parkinson Diagnoses in Progranulin Null Mutation Carriers in an Extended Founder Family
Brouwers, Nathalie, Nuytemans, Karen, van der Zee, Julie, Gijselinck, Ilse, Engelborghs, Sebastiaan, Theuns, Jessie, Kumar-Singh, Samir, Pickut, Barbara A, Pals, Philippe, Dermaut, Bart, Bogaerts, Veerle, De Pooter, Tim, Serneels, Sally, Van den Broeck, Marleen, Cuijt, Ivy, Mattheijssens, Maria, Peeters, Karin, Sciot, Raf, Martin, Jean-Jacques, Cras, Patrick, Santens, Patrick, Vandenberghe, Rik, De Deyn, Peter P, Cruts, Marc, Van Broeckhoven, Christine, Sleegers, Kristel
Published in Archives of neurology (Chicago) (01.10.2007)
Published in Archives of neurology (Chicago) (01.10.2007)
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