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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.Psychiatry Research|January 1, 1993
Light visor treatment for seasonal affective disorder: a multicenter studyR T Joffe, D E Moul, R W Lam, 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.Journal of Medical Genetics|November 23, 2013
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1John H Livingston, Jean-Pierre Lin, Russell C Dale, et al.Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.Nature Communications|February 6, 2021
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidineVíctor Faundes, Martin D Jennings, Siobhan Crilly, et al.American Journal of Human Genetics|February 3, 2016
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual DisabilityPaul R Kasher, Katherine E Schertz, Megan Thomas, et al.European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.Pageof 17