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List of works by Pau Pastor

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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

scientific article
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

scientific article
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

scientific article
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019
Structural brain changes in Parkinson disease with dementia: a voxel-based morphometry study

scientific article published in February 2005
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

scientific article
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

scientific article
Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

scientific article
A novel Alzheimer disease locus located near the gene encoding tau protein.

scientific article
PINK1-linked parkinsonism is associated with Lewy body pathology

scientific article published on March 30, 2010
TREM2 is associated with the risk of Alzheimer's disease in Spanish population

scientific article published on 5 February 2013
Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred

scientific article published in August 2003
Amygdalar and hippocampal MRI volumetric reductions in Parkinson's disease with dementia

scientific article published in May 2005
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 20 September 2013
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

scientific article
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

scientific article
Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

article
Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

scientific article published on 13 September 2013
Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.

scientific article
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

scientific article published in May 2005
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article
TREM2 and Neurodegenerative Disease

scientific article published on 01 October 2013
Significant association between the tau gene A0/A0 genotype and Parkinson's disease

scientific article published in February 2000
Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer's disease

scientific article
Molecular genetics of Alzheimer’s disease

article
Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

scientific article published on 2 November 2015
No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

scientific article
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

scientific article published on 7 July 2015
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

scientific article
Further extension of the H1 haplotype associated with progressive supranuclear palsy

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016
LINGO1 and risk for essential tremor: results of a meta-analysis of rs9652490 and rs11856808.

scientific article published on 17 March 2012
A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease.

scientific article published on 11 November 2011
Automated analysis of FDG PET as a tool for single-subject probabilistic prediction and detection of Alzheimer's disease dementia.

scientific article published on 29 May 2013
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

scientific article published on 12 February 2009
Novel haplotypes in 17q21 are associated with progressive supranuclear palsy

scientific article
Memory decline evolves independently of disease activity in MS.

scientific article published on 23 June 2008
Genetic variation in APOE cluster region and Alzheimer's disease risk.

scientific article published on 14 July 2011
Analysis of theMicro-RNA-133andPITX3genes in Parkinson's disease

article
Genome-wide association study in essential tremor identifies three new loci

scientific article published on 20 October 2016
Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis

scientific article
Update on genetics of essential tremor.

scientific article published on 18 May 2013
Identification of Spanish familial Parkinson's disease and screening for the Ala53Thr mutation of the α-synuclein gene in early onset patients

article
Dementia in Parkinson disease: a proton magnetic resonance spectroscopy study

scientific article published in September 2002
Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor

scientific article published in July 2011
Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor

scientific article published on 5 September 2010
Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans

scientific article published in November 1999
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

scientific article published on 30 March 2016

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