HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis

por Riemslagh, Frederike W., Lans, Hannes, Seelaar, Harro, Severijnen, Lies-Anne W. F. M., Melhem, Shamiram, Vermeulen, Wim, Aronica, Eleonora, Pasterkamp, R. Jeroen, van Swieten, John C., Willemsen, Rob
Publicado 2019

FTD-tau S320F mutation stabilizes local structure and allosterically promotes amyloid motif-dependent aggregation

por Chen, Dailu, Bali, Sofia, Singh, Ruhar, Wosztyl, Aleksandra, Mullapudi, Vishruth, Vaquer-Alicea, Jaime, Jayan, Parvathy, Melhem, Shamiram, Seelaar, Harro, van Swieten, John C., Diamond, Marc I., Joachimiak, Lukasz A.
Publicado 2023

A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

por Hukema, Renate K, Riemslagh, Fréderike W, Melhem, Shamiram, van der Linde, Herma C, Severijnen, Lies-Anne WFM, Edbauer, Dieter, Maas, Alex, Charlet-Berguerand, Nicolas, Willemsen, Rob, van Swieten, John C
Publicado 2014

Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

por Hukema, Renate K., Riemslagh, Fréderike W., Melhem, Shamiram, van der Linde, Herma C., Severijnen, Lies-Anne W. F. M., Edbauer, Dieter, Maas, Alex, Charlet-Berguerand, Nicolas, Willemsen, Rob, van Swieten, John C.
Publicado 2016

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

por Gami‐Patel, Priya, van Dijken, Irene, Meeter, Lieke H., Melhem, Shamiram, Morrema, Tjado H. J., Scheper, Wiep, van Swieten, John C., Rozemuller, Annemieke J. M., Dijkstra, Anke A., Hoozemans, Jeroen J. M.
Publicado 2020

Cortical iron accumulation in MAPT ‐ and C9orf 72‐associated frontotemporal lobar degeneration

por Giannini, Lucia A. A., Bulk, Marjolein, Kenkhuis, Boyd, Rajicic, Ana, Melhem, Shamiram, Hegeman‐Kleinn, Ingrid, Bossoni, Lucia, Suidgeest, Ernst, Dopper, Elise G. P., van Swieten, John C., van der Weerd, Louise, Seelaar, Harro
Publicado 2023

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

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

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