A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome von Wiseman, Frances K., Al-Janabi, Tamara, Hardy, John, Karmiloff-Smith, Annette, Nizetic, Dean, Tybulewicz, Victor L. J., Fisher, Elizabeth M. C., Strydom, André

Volltext

Is SOD1 loss of function involved in amyotrophic lateral sclerosis? von SACCON, Rachele A, BUNTON-STASYSHYN, Rosie K. A, FISHER, Elizabeth M. C, FRATTA, Pietro

Volltext

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia von Fratta, Pietro, Poulter, Mark, Lashley, Tammaryn, Rohrer, Jonathan D., Polke, James M., Beck, Jon, Ryan, Natalie, Hensman, Davina, Mizielinska, Sarah, Waite, Adrian J., Lai, Mang-Ching, Gendron, Tania F., Petrucelli, Leonard, Fisher, Elizabeth M. C., Revesz, Tamas, Warren, Jason D., Collinge, John, Isaacs, Adrian M., Mead, Simon

Volltext

Species-Specific Transcription in Mice Carrying Human Chromosome 21 von Wilson, Michael D, Barbosa-Morais, Nuno L, Schmidt, Dominic, Conboy, Caitlin M, Vanes, Lesley, Tybulewicz, Victor L.J, Fisher, Elizabeth M.C, Tavaré, Simon, Odom, Duncan T

Volltext

SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments von Joyce, Peter I., Fratta, Pietro, Fisher, Elizabeth M. C., Acevedo-Arozena, Abraham

Volltext

Correlation of clinical and molecular features in spinal bulbar muscular atrophy von Fratta, Pietro, Nirmalananthan, Niranjanan, Masset, Luc, Skorupinska, Iwona, Collins, Toby, Cortese, Andrea, Pemble, Sally, Malaspina, Andrea, Fisher, Elizabeth M.C, Greensmith, Linda, Hanna, Michael G

Volltext

Endosomal structure and APP biology are not altered in a preclinical mouse cellular model of Down syndrome von Cannavo, Claudia, Cleverley, Karen, Maduro, Cheryl, Mumford, Paige, Moulding, Dale, Fisher, Elizabeth M C, Wiseman, Frances K

Volltext

Genetic analysis of the cytoplasmic dynein subunit families von Pfister, K Kevin, Shah, Paresh R, Hummerich, Holger, Russ, Andreas, Cotton, James, Annuar, Azlina Ahmad, King, Stephen M, Fisher, Elizabeth M C

Volltext

Down syndrome—recent progress and future prospects von Wiseman, Frances K., Alford, Kate A., Tybulewicz, Victor L.J., Fisher, Elizabeth M.C.

Volltext

Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes von O'Doherty, Aideen, Ruf, Sandra, Mulligan, Claire, Hildreth, Victoria, Errington, Mick L, Cooke, Sam, Sesay, Abdul, Modino, Sonie, Vanes, Lesley, Hernandez, Diana, Linehan, Jacqueline M, Sharpe, Paul T, Brandner, Sebastian, Bliss, Timothy V. P, Henderson, Deborah J, Nizetic, Dean, Tybulewicz, Victor L. J, Fisher, Elizabeth M. C

Volltext

Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration von Watson-Scales, Sheona, Kalmar, Bernadett, Lana-Elola, Eva, Gibbins, Dorota, La Russa, Federica, Wiseman, Frances, Williamson, Matthew, Saccon, Rachele, Slender, Amy, Olerinyova, Anna, Mahmood, Radma, Nye, Emma, Cater, Heather, Wells, Sara, Yu, Y Eugene, Bennett, David L H, Greensmith, Linda, Fisher, Elizabeth M C, Tybulewicz, Victor L J

Volltext

Humanising the mouse genome piece by piece von Zhu, Fei, Nair, Remya R., Fisher, Elizabeth M. C., Cunningham, Thomas J.

Volltext

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations von Urwin, Hazel, Authier, Astrid, Nielsen, Jorgen E., Metcalf, Daniel, Powell, Caroline, Froud, Kristina, Malcolm, Denise S., Holm, Ida, Johannsen, Peter, Brown, Jeremy, Fisher, Elizabeth M.C., van der Zee, Julie, Bruyland, Marc, Van Broeckhoven, Christine, Collinge, John, Brandner, Sebastian, Futter, Clare, Isaacs, Adrian M.

Volltext

point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice von Becker, Esther B.E, Oliver, Peter L, Glitsch, Maike D, Banks, Gareth T, Achilli, Francesca, Hardy, Andrea, Nolan, Patrick M, Fisher, Elizabeth M.C, Davies, Kay E

Volltext

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice von GHAZI-NOORI, Shabnam, FROUD, Kristina E, ASANTE, Emmanuel A, BRANDNER, Sebastian, COLLINGE, John, ISAACS, Adrian M, MIZIELINSKA, Sarah, POWELL, Caroline, SMIDAK, Michelle, DE MARCO, Mar Fernandez, O'MALLEY, Catherine, FARMER, Michael, PARKINSON, Nick, FISHER, Elizabeth M. C

Volltext

Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome von Gribble, Susan M, Wiseman, Frances K, Clayton, Stephen, Prigmore, Elena, Langley, Elizabeth, Yang, Fengtang, Maguire, Sean, Fu, Beiyuan, Rajan, Diana, Sheppard, Olivia, Scott, Carol, Hauser, Heidi, Stephens, Philip J, Stebbings, Lucy A, Ng, Bee Ling, Fitzgerald, Tomas, Quail, Michael A, Banerjee, Ruby, Rothkamm, Kai, Tybulewicz, Victor L J, Fisher, Elizabeth M C, Carter, Nigel P

Volltext

Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years von Hithersay, Rosalyn, Startin, Carla M, Hamburg, Sarah, Mok, Kin Y, Hardy, John, Fisher, Elizabeth M. C, Tybulewicz, Victor L. J, Nizetic, Dean, Strydom, André

Volltext

Cathepsin B abundance, activity and microglial localisation in Alzheimer's disease-Down syndrome and early onset Alzheimer's disease; the role of elevated cystatin B von Wu, Yixing, Mumford, Paige, Noy, Suzanna, Cleverley, Karen, Mrzyglod, Alicja, Luo, Dinghao, van Dalen, Floris, Verdoes, Martijn, Fisher, Elizabeth M C, Wiseman, Frances K

Volltext

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans von van de Leemput, Joyce, Chandran, Jayanth, Knight, Melanie A, Holtzclaw, Lynne A, Scholz, Sonja, Cookson, Mark R, Houlden, Henry, Gwinn-Hardy, Katrina, Fung, Hon-Chung, Lin, Xian, Hernandez, Dena, Simon-Sanchez, Javier, Wood, Nick W, Giunti, Paola, Rafferty, Ian, Hardy, John, Storey, Elsdon, Gardner, R J McKinlay, Forrest, Susan M, Fisher, Elizabeth M C, Russell, James T, Cai, Huaibin, Singleton, Andrew B

Volltext

Genomically humanized mice: technologies and promises von Devoy, Anny, Bunton-Stasyshyn, Rosie K. A., Tybulewicz, Victor L. J., Smith, Andrew J. H., Fisher, Elizabeth M. C.

Volltext