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Cell Reports. Medicine|August 2, 2021
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactionsAlex J Clark, Umaiyal Kugathasan, Georgios Baskozos, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|April 8, 2011
Behavioral and other phenotypes in a cytoplasmic Dynein light intermediate chain 1 mutant mouseGareth T Banks, Matilda A Haas, Samantha Line, et al.
Brain : a Journal of Neurology|October 21, 2017
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin miceAnny Devoy, Bernadett Kalmar, Michelle Stewart, et al.
Plos Genetics|May 11, 2018
Analysis of motor dysfunction in Down Syndrome reveals motor neuron degenerationSheona Watson-Scales, Bernadett Kalmar, Eva Lana-Elola, et al.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Science Translational Medicine|March 25, 2016
Targeting protein homeostasis in sporadic inclusion body myositisMhoriam Ahmed, Pedro M Machado, Adrian Miller, et al.
Current Pharmaceutical Design|August 28, 2012
Hydroximic acid derivatives: pleiotropic HSP co-inducers restoring homeostasis and robustnessTim Crul, Noemi Toth, Stefano Piotto, et al.
The EMBO Journal|May 17, 2018
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosisPietro Fratta, Prasanth Sivakumar, Jack Humphrey, et al.
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