Elizabeth Fisher

UCL Institute of Neurology, Queen Square, London, England, United Kingdom 
"Elizabeth Fisher"
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Lana-Elola E, Watson-Scales S, Slender A, et al. (2020) Correction: Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel. Elife. 9
Humphrey J, Birsa N, Milioto C, et al. (2020) FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention. Nucleic Acids Research
Cunningham TJ, Fisher E, Fratta P, et al. (2020) DNA Editing for Amyotrophic Lateral Sclerosis: Leading Off First Base. The Crispr Journal. 3: 75-77
Thomas JR, LaCombe J, Long R, et al. (2020) Interaction of sexual dimorphism and gene dosage imbalance in skeletal deficits associated with Down syndrome. Bone. 115367
Sleigh JN, Tosolini AP, Gordon D, et al. (2020) Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes. Cell Reports. 30: 3655-3662.e2
Terenzio M, Di Pizio A, Rishal I, et al. (2020) DYNLRB1 is essential for dynein mediated transport and neuronal survival. Neurobiology of Disease. 104816
Nair RR, Corrochano S, Gasco S, et al. (2019) Uses for humanised mouse models in precision medicine for neurodegenerative disease. Mammalian Genome : Official Journal of the International Mammalian Genome Society
De Giorgio F, Maduro C, Fisher EMC, et al. (2019) Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis. Disease Models & Mechanisms. 12
Sivakumar P, De Giorgio F, Ule AM, et al. (2018) TDP-43 mutations increase HNRNP A1-7B through gain of splicing function. Brain : a Journal of Neurology
Fratta P, Sivakumar P, Humphrey J, et al. (2018) Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. The Embo Journal
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