User profiles for "author:Alan Pittman"
Alan Michael PittmanLecturer in Genomics/Bioinformatics, St. Georges, University of London Verified email at sgul.ac.uk Cited by 12474 |
Untangling the tau gene association with neurodegenerative disorders
AM Pittman, HC Fung, R de Silva - Human molecular genetics, 2006 - academic.oup.com
Pathological tau protein inclusions have long been recognized to define the diverse range of
neurodegenerative disorders called the tauopathies, which include Alzheimer's disease …
neurodegenerative disorders called the tauopathies, which include Alzheimer's disease …
Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism
DR Williams, R de Silva, DC Paviour, A Pittman… - Brain, 2005 - academic.oup.com
The clinical diagnosis of progressive supranuclear palsy (PSP) relies on the identification of
characteristic signs and symptoms. A proportion of pathologically diagnosed cases do not …
characteristic signs and symptoms. A proportion of pathologically diagnosed cases do not …
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
MATR3 is an RNA-and DNA-binding protein that interacts with TDP-43, a disease protein
linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome …
linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome …
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23. 3
IPM Tomlinson, E Webb, L Carvajal-Carmona… - Nature …, 2008 - nature.com
To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide
association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal …
association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal …
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
To identify risk variants for colorectal cancer (CRC), we conducted a genome-wide
association study, genotyping 550,163 tag SNPs in 940 individuals with familial colorectal …
association study, genotyping 550,163 tag SNPs in 940 individuals with familial colorectal …
The expression of DJ‐1 (PARK7) in normal human CNS and idiopathic Parkinson's disease
R Bandopadhyay, AE Kingsbury, MR Cookson… - Brain, 2004 - academic.oup.com
Two mutations in the DJ‐1 gene on chromosome1p36 have been identified recently to
cause early‐onset, autosomal recessive Parkinson's disease. As no information is available …
cause early‐onset, autosomal recessive Parkinson's disease. As no information is available …
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W Van Rheenen, A Shatunov, AM Dekker… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …
associated loci, we assembled a custom imputation reference panel from whole-genome …
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia
MC Di Bernardo, D Crowther-Swanepoel, P Broderick… - Nature …, 2008 - nature.com
We conducted a genome-wide association study of 299,983 tagging SNPs for chronic
lymphocytic leukemia (CLL) and performed validation in two additional series totaling 1,529 …
lymphocytic leukemia (CLL) and performed validation in two additional series totaling 1,529 …
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26. 2, 12q13. 13 and 20q13. 33
RS Houlston, J Cheadle, SE Dobbins, A Tenesa… - Nature …, 2010 - nature.com
Genome-wide association studies (GWAS) have identified ten loci harboring common
variants that influence risk of developing colorectal cancer (CRC). To enhance the power to …
variants that influence risk of developing colorectal cancer (CRC). To enhance the power to …
Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome
DR Williams, JL Holton, C Strand, A Pittman, R de Silva… - Brain, 2007 - academic.oup.com
Clinical syndromes associated with progressive supranuclear palsy-tau pathology now
include progressive supranuclear palsy-parkinsonism (PSP-P), in addition to classic …
include progressive supranuclear palsy-parkinsonism (PSP-P), in addition to classic …