Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation von Clayton, Emma L, Mancuso, Renzo, Nielsen, Troels Tolstrup, Mizielinska, Sarah, Holmes, Holly, Powell, Nicholas, Norona, Frances, Larsen, Jytte Overgaard, Milioto, Carmelo, Wilson, Katherine M, Lythgoe, Mark F, Ourselin, Sebastian, Nielsen, Jörgen E, Johannsen, Peter, Holm, Ida, Collinge, John, Oliver, Peter L, Gomez-Nicola, Diego, Isaacs, Adrian M

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Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation von Ochalek, Anna, Mihalik, Balázs, Avci, Hasan X, Chandrasekaran, Abinaya, Téglási, Annamária, Bock, István, Giudice, Maria Lo, Táncos, Zsuzsanna, Molnár, Kinga, László, Lajos, Nielsen, Jørgen E, Holst, Bjørn, Freude, Kristine, Hyttel, Poul, Kobolák, Julianna, Dinnyés, András

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Cocaine- and amphetamine-regulated transcript is increased in Huntington disease von Björkqvist, Maria, Leavitt, Blair R., Nielsen, Jörgen E., Landwehrmeyer, Bernhard, Ecker, Daniel, Mulder, Hindrik, Brundin, Patrik, Petersén, Åsa

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Hybrid 2-[F-18] FDG PET/MRI in premanifest Huntington's disease gene-expansion carriers: The significance of partial volume correction von Hellem, Marie N. N., Vinther-Jensen, Tua, Anderberg, Lasse, Budtz-Jorgensen, Esben, Hjermind, Lena E., Larsen, Vibeke Andree, Nielsen, Jorgen E., Law, Ian

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Glutamate-glutamine homeostasis is perturbed in neurons and astrocytes derived from patient iPSC models of frontotemporal dementia von Aldana, Blanca I., Zhang, Yu, Jensen, Pia, Chandrasekaran, Abinaya, Christensen, Sofie K., Nielsen, Troels T., Nielsen, Jorgen E., Hyttel, Poul, Larsen, Martin R., Waagepetersen, Helle S., Freude, Kristine K.

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Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease von Essen, Marina R., Hellem, Marie N. N., Vinther‐Jensen, Tua, Ammitzbøll, Cecilie, Hansen, Rikke H., Hjermind, Lena E., Nielsen, Troels T., Nielsen, Jørgen E., Sellebjerg, Finn

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On the association between apathy and deficits of social cognition and executive functions in Huntington’s disease von Hendel, Rebecca K., Hellem, Marie N.N., Hjermind, Lena E., Nielsen, Jørgen E., Vogel, Asmus

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Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology von Clayton, Emma L., Mizielinska, Sarah, Edgar, James R., Nielsen, Troels Tolstrup, Marshall, Sarah, Norona, Frances E., Robbins, Miranda, Damirji, Hana, Holm, Ida E., Johannsen, Peter, Nielsen, Jørgen E., Asante, Emmanuel A., Collinge, John, Isaacs, Adrian M.

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Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters von Cornelius, Nanna, Wardman, Jonathan H, Hargreaves, Iain P, Neergheen, Viruna, Bie, Anne Sigaard, Tümer, Zeynep, Nielsen, Jørgen E, Nielsen, Troels T

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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia von Sørensen, Sven Asger, Gade, Anders, Lloyd, Sarah L, Spillantini, Maria Grazia, Hodges, John R, Johannsen, Peter, Parkinson, Nicholas J, Hummerich, Holger, Gydesen, Susanne, Chakrabarti, Lisa, Brun, Arne, Brown, Jeremy M, Brandner, Sebastian, Collinge, John, Skibinski, Gaia, Rossor, Martin N, Fisher, Elizabeth MC, Nielsen, Jørgen E, Thusgaard, Tove

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Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 von Chelban, Viorica, Wiethoff, Sarah, Fabian‐Jessing, Bjørn K., Haridy, Nourelhoda A., Khan, Alaa, Efthymiou, Stephanie, Becker, Esther B. E., O'Connor, Emer, Hersheson, Joshua, Newland, Katrina, Hojland, Allan Thomas, Gregersen, Pernille A., Lindquist, Suzanne G., Petersen, Michael B., Nielsen, Jørgen E., Nielsen, Michael, Wood, Nicholas W., Giunti, Paola, Houlden, Henry

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Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients von Mou, Yongchao, Nandi, Ghata, Mukte, Sukhada, Chai, Eric, Chen, Zhenyu, Nielsen, Jorgen E, Nielsen, Troels T, Criscuolo, Chiara, Blackstone, Craig, Fraidakis, Matthew J, Li, Xue-Jun

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Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants von Toft, Anders, Birk, Steffen, Ballegaard, Martin, Dunø, Morten, Hjermind, Lena E., Nielsen, Jørgen E., Svenstrup, Kirsten

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Endophenotypical drift in Huntington's disease: a 5-year follow-up study von Hellem, Marie N. N., Hendel, Rebecca K., Vinther-Jensen, Tua, Larsen, Ida U., Nielsen, Troels T., Hjermind, Lena E., Budtz-Jorgensen, Esben, Vogel, Asmus, Nielsen, Jorgen E.

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A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer's disease von Boeddrich, Annett, Haenig, Christian, Neuendorf, Nancy, Blanc, Eric, Ivanov, Andranik, Kirchner, Marieluise, Schleumann, Philipp, Bayraktaroğlu, Irem, Richter, Matthias, Molenda, Christine Mirjam, Sporbert, Anje, Zenkner, Martina, Schnoegl, Sigrid, Suenkel, Christin, Schneider, Luisa-Sophie, Rybak-Wolf, Agnieszka, Kochnowsky, Bianca, Byrne, Lauren M, Wild, Edward J, Nielsen, Jørgen E, Dittmar, Gunnar, Peters, Oliver, Beule, Dieter, Wanker, Erich E

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Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B von Zhang, Yu, Schmid, Benjamin, Nikolaisen, Nanett K., Rasmussen, Mikkel A., Aldana, Blanca I., Agger, Mikkel, Calloe, Kirstine, Stummann, Tina C., Larsen, Hjalte M., Nielsen, Troels T., Huang, Jinrong, Xu, Fengping, Liu, Xin, Bolund, Lars, Meyer, Morten, Bak, Lasse K., Waagepetersen, Helle S., Luo, Yonglun, Nielsen, Jørgen E., Holst, Bjørn, Clausen, Christian, Hyttel, Poul, Freude, Kristine K.

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CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers von Rostgaard, Nina, Roos, Peter, Portelius, Erik, Blennow, Kaj, Zetterberg, Henrik, Simonsen, Anja H, Nielsen, Jørgen E

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Homozygosity for R47H in TREM2 and the Risk of Alzheimer’s Disease von Stefansson, Hreinn, Walters, G. Bragi, Sveinbjornsson, Gardar, Tragante, Vinicius, Einarsson, Gudmundur, Helgason, Hannes, Sigurðsson, Asgeir, Beyter, Doruk, Snaebjarnarson, Audunn S., Ivarsdottir, Erna V., Thorleifsson, Gudmar, Halldorsson, Bjarni V., Norddahl, Gudmundur, Styrkarsdottir, Unnur, Sturluson, Arni, Holm, Hilma, Helgason, Agnar, Moore, Kristjan, Eggertsson, Hannes P., Oddsson, Asmundur H., Jonsdottir, Gudrun A., Gunnarsson, Arni F., Bjornsdottir, Gyda, Gisladottir, Rosa S., Thorgeirsson, Thorgeir E., Skuladottir, Astros, Gudbjartsson, Daniel F., Sulem, Patrick, Jonsson, Palmi, Thordardottir, Steinunn, Snaedal, Jon, Eyjolfsdottir, Helga, Creese, Byron, Ballard, Clive, Corbett, Anne, Vasconcelos Da Silva, Miguel, Aarsland, Dag, Andreassen, Ole A., Selbæk, Geir, Djurovic, Srdjan, Stordal, Eystein, Fladby, Thormod, Haavik, Jan, Igland, Jannicke, Giil, Lasse M., Eriksson, Sture, Hallmans, Göran, Lövheim, Hugo, Lopatko Lindman, Karin, Trupp, Miles, Forsgren, Lars, Werge, Thomas, Banasik, Karina, Brunak, Søren, Ullum, Henrik, Frikke-Schmidt, Ruth, Ostrowski, Sisse R., Didriksen, Maria, Sørensen, Erik, Simonsen, Anja H., Nielsen, Jørgen E., Waldemar, Gunhild, Pedersen, Ole B., Erikstrup, Christian, Knowlton, Kirk U., Nadauld, Lincoln D., Stefansson, Kari

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Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients von Hellem, Marie N.N., Cheong, Rachel Y., Tonetto, Simone, Vinther-Jensen, Tua, Hendel, Rebecca K., Larsen, Ida U., Nielsen, Troels T., Hjermind, Lena E., Vogel, Asmus, Budtz-Jørgensen, Esben, Petersén, Åsa, Nielsen, Jørgen E.

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Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1 von Pires, Carlota, Schmid, Benjamin, Petræus, Carina, Poon, Anna, Nimsanor, Natakarn, Nielsen, Troels T., Waldemar, Gunhild, Hjermind, Lena E., Nielsen, Jørgen E., Hyttel, Poul, Freude, Kristine K.

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