Article
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
Annals of neurology - 1 Oct 2018
Jabbari Edwin, Woodside John, Tan Manuela M X, Shoai Maryam, Pittman Alan, Ferrari Raffaele, Mok Kin Y, Zhang David, Reynolds Regina H, de Silva Rohan, Grimm Max-Joseph, Respondek Gesine, Müller Ulrich, Al-Sarraj Safa, Gentleman Stephen M, Lees Andrew J, Warner Thomas T, Hardy John, Revesz Tamas, Höglinger Günter U, Holton Janice L, Ryten Mina, Morris Huw R
Abstract excerpt
OBJECTIVE: The basis for clinical variation related to underlying progressive supranuclear palsy (PSP) pathology is unknown. We performed a genome-wide association study (GWAS) to identify genetic determinants of PSP phenotype. METHODS: Two independent pathological and clinically diagnosed PSP cohorts were genotyped and phenotyped to create Richardson syndrome (RS) and non-RS groups. We carried out separate...
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