James Uphill
Wellcome Sanger Institute(GB)
Publications by Year
Research Areas
Prion Diseases and Protein Misfolding, Neurological diseases and metabolism, Alzheimer's disease research and treatments, Amyotrophic Lateral Sclerosis Research, Trace Elements in Health
Most-Cited Works
- → Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing(2019)3,123 cited
- → The heritability and genetics of frontotemporal lobar degeneration(2009)524 cited
- → Frontotemporal dementia and its subtypes: a genome-wide association study(2014)400 cited
- → Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population(2013)345 cited
- → A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure(2009)200 cited
- → Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study(2008)153 cited
- → Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia(2018)152 cited
- → Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series(2008)134 cited
- → Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease(2016)125 cited
- → R47H TREM2 variant increases risk of typical early‐onset Alzheimer's disease but not of prion or frontotemporal dementia(2014)116 cited