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American Journal of Human Genetics|May 4, 2020
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and CystsAndrew P Badrock, Carolina Uggenti, Ludivine Wacheul, et al.Neuron|October 31, 2001
The binding site of acetylcholine receptor as visualized in the X-Ray structure of a complex between alpha-bungarotoxin and a mimotope peptideM Harel, R Kasher, A Nicolas, et al.Disease Models & Mechanisms|May 23, 2025
The role of 25-hydroxycholesterol in the pathophysiology of brain vessel dysfunction associated with infection and cholesterol dysregulationVictor S Tapia, Sarah E Withers, Ran Zhou, et al.Frontiers in Immunology|March 23, 2023
Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndromeSarah E Withers, Charlie F Rowlands, Victor S Tapia, et al.Annals of Neurology|May 4, 2026
Hematoma Interleukin-1 Receptor Antagonist Concentrations Predict Long-Term Outcome in Acute Human Intracerebral HemorrhageAdrian R Parry-Jones, Blessing Nyakutsikwa, Michael H Askenase, et al.Iscience|February 8, 2024
Brazilin is a natural product inhibitor of the NLRP3 inflammasomeEmily McMahon, Sherihan El-Sayed, Jack Green, et al.Journal of Neurochemistry|May 21, 2009
Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patientsPaul R Kasher, Kurt J De Vos, Stephen B Wharton, et al.Human Molecular Genetics|October 21, 2011
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyMarian A J Weterman, Vincenzo Sorrentino, Paul R Kasher, et al.F1000Research|November 29, 2018
Using zebrafish larval models to study brain injury, locomotor and neuroinflammatory outcomes following intracerebral haemorrhageSiobhan Crilly, Alexandra Njegic, Sarah E Laurie, et al.Pediatric Rheumatology Online Journal|October 4, 2014
Mutations in CECR1 associated with a neutrophil signature in peripheral bloodAlexandre Belot, Evangeline Wassmer, Marinka Twilt, et al.Pageof 5