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Acta Neuropathologica|September 12, 2015
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathologyEmma L Clayton, Sarah Mizielinska, James R Edgar, et al.
Human Molecular Genetics|October 25, 2007
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitroJulie van der Zee, Hazel Urwin, Sebastiaan Engelborghs, et al.
Brain : a Journal of Neurology|February 28, 2012
Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic miceShabnam Ghazi-Noori, Kristina E Froud, Sarah Mizielinska, et al.
Frontiers in Neuroscience|September 20, 2021
Dysregulation in Subcellular Localization of Myelin Basic Protein mRNA Does Not Result in Altered Myelination in Amyotrophic Lateral SclerosisSamantha K Barton, Jenna M Gregory, Bhuvaneish T Selvaraj, et al.
Elife|March 19, 2021
Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in DrosophilaMagda L Atilano, Sebastian Grönke, Teresa Niccoli, et al.
G3 (Bethesda, Md.)|March 20, 2016
Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogasterJanani Iyer, Qingyu Wang, Thanh Le, et al.
The EMBO Journal|November 18, 2021
C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradationNausicaa V Licata, Riccardo Cristofani, Sally Salomonsson, et al.
Acta Neuropathologica|January 6, 2018
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanismBart Swinnen, Andre Bento-Abreu, Tania F Gendron, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 12, 2003
A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouseAdrian M Isaacs, Peter L Oliver, Emma L Jones, et al.
Human Molecular Genetics|March 13, 2010
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutationsHazel Urwin, Astrid Authier, Jorgen E Nielsen, et al.
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