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List of works by Pau Pastor

1-Antichymotrypsin gene polymorphism and susceptibility to Parkinson's disease

article

5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration

scientific article published on November 2008

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

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

A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor

scientific article published on 21 July 2016

A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism

article

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

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

scientific article

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

scientific article published in May 2005

A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease

scientific article published in August 2003

A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.

scientific article

A polymorphism located at an ATG transcription start site of the heme oxygenase-2 gene is associated with classical Parkinson's disease.

scientific article published in September 2011

A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2

scientific article published on 15 September 2019

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

Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain

scientific article

Added value of CSF multi-marker analysis in diagnosis and progression of dementia

scientific article published on 24 November 2020

Age at onset in LRRK2-associated PD is modified by SNCA variants.

scientific article

Amygdalar and hippocampal MRI volumetric reductions in Parkinson's disease with dementia

scientific article published in May 2005

An association study between Heme oxygenase-1 genetic variants and Parkinson's disease

scientific article

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

scientific article

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor

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

Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease.

scientific article published in November 2001

Analysis of the exon 1 polymorphism in the Tau gene in transmissible spongiform encephalopathies

article

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

article

Analysis of theMicro-RNA-133andPITX3genes in Parkinson's disease

article

Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred

scientific article published in August 2003

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

Association Between Vitamin D Receptor rs731236 (Taq1) Polymorphism and Risk for Restless Legs Syndrome in the Spanish Caucasian Population.

scientific article

Association Between the rs1229984 Polymorphism in the Alcohol Dehydrogenase 1B Gene and Risk for Restless Legs Syndrome.

scientific article published on 16 October 2017

Association between the missense alcohol dehydrogenase rs1229984T variant with the risk for Parkinson's disease in women

scientific article published on 27 November 2018

Atlas-based segmentation of brainstem regions in neuromelanin-sensitive magnetic resonance images

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

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

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

scientific article

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

Cabergoline in the treatment of Parkinson's disease

scientific article published in May 2003

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

scientific article published on 20 September 2013

Clinic-Based Validation of Cerebrospinal Fluid Biomarkers with Florbetapir PET for Diagnosis of Dementia

scientific article published on 14 November 2017

Clinical and neuroimaging characteristics of 14 patients with prionopathy: a descriptive study

scientific article published on 26 February 2014

Comment: Double mutants of frontotemporal dementia genes--Simple co-occurrence?

article

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

scientific article published on 25 October 2017

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

scientific article published on 7 June 2021

Common variation in the LRRK2 gene is a risk factor for Parkinson's disease

scientific article

Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases

scientific article published on 9 October 2015

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

scientific article published on 18 January 2020

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

scientific article published on 27 April 2017

Delta-amino-levulinic acid dehydratase gene and essential tremor

scientific article published on 9 March 2017

Dementia in Parkinson disease: a proton magnetic resonance spectroscopy study

scientific article published in September 2002

Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy

scientific article

Dopamine receptor D2 intronic polymorphism in patients with Parkinson's disease

scholarly article by Pau Pastor et al published October 1999 in Neuroscience Letters

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis

scientific article

Enfermedad de Parkinson esporádica y familiar: estudio comparativo

scientific article published on 01 May 2001

Enhanced gain of blink reflex responses to ipsilateral supraorbital nerve afferent inputs in patients with facial nerve palsy

article

Examination of motor output pathways in patients with corticobasal ganglionic degeneration using transcranial magnetic stimulation.

scientific article

Exome-wide rare variant analysis in familial essential tremor

scientific article published on 24 November 2020

Familial neurodegeneration in progressive supranuclear palsy: more frequent than expected?

scientific article published on 6 May 2009

Forceps Minor Region Signal Abnormality “Ears of the Lynx”: An Early MRI Finding in Spastic Paraparesis with Thin Corpus Callosum and Mutations in the Spatacsin Gene(SPG11)on Chromosome 15

article

Frontobasal gray matter loss is associated with the TREM2 p.R47H variant

scientific article

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

scientific article

Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

scientific article published on 19 November 2020

Further extension of the H1 haplotype associated with progressive supranuclear palsy

Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans

scientific article

Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor

scientific article published on 5 September 2010

Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome

scientific article

Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor

scientific article published in July 2011

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article

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

scientific article

Genetic heterogeneity in Parkinson disease: The meaning of GWAS and replication studies

scholarly article by Pau Pastor published 11 July 2012 in Neurology

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

Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer's disease

scientific article

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

scientific article

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

scientific article published on 19 February 2015

Genetic variation in APOE cluster region and Alzheimer's disease risk.

scientific article published on 14 July 2011

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

scientific article published on 15 February 2021

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

scientific article published on 2 November 2015

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

scientific article published on 20 October 2016

Genome-wide estimates of heritability and genetic correlations in essential tremor

article

Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings

scientific article published on 12 June 2019

H1-MAPT and the risk for familial essential tremor

scientific article

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

Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor.

scientific article

Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Multiple Sclerosis

scientific article published on 12 February 2016

Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome.

scientific article

Heritability and genetic variance of dementia with Lewy bodies

scientific article published on 03 April 2019

Heterozygous mutation causes familial ataxia with cognitive affective syndrome (SCA48)

scientific article published on 31 October 2018

High ultrasensitive serum C-reactive protein may be related to freezing of gait in Parkinson's disease patients

scientific article published on 31 October 2019

Identification of Spanish familial Parkinson's disease and screening for the Ala53Thr mutation of the α-synuclein gene in early onset patients

article

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

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

scientific article

Isolated dysphagia due to paraneoplastic myasthenic syndrome with anti-P/Q-type voltage-gated calcium-channel and anti-acetylcholine receptor antibodies

scientific article published on 5 November 2010

LINGO1 and risk for essential tremor: results of a meta-analysis of rs9652490 and rs11856808.

scientific article published on 17 March 2012

LINGO1 gene analysis in Parkinson's disease phenotypes.

scientific article published on 4 January 2011

LINGO1 rs9652490 and rs11856808 are not associated with the risk of Parkinson’s disease: Results of a meta-analysis

article

LINGO1 rs9652490 and rs11856808 polymorphisms are not associated with risk for multiple sclerosis

scientific article

LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation

scientific article published on 28 October 2011

Lack of association of LINGO1 rs9652490 and rs11856808 SNPs with familial essential tremor.

scientific article

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population

scientific article published on 11 October 2016

Lack of interaction of SNCA and MAPT genotypes in Parkinson's disease.

scientific article

Long runs of homozygosity are associated with Alzheimer's disease

scientific article published on 24 February 2021

MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium

scientific article

MAPT association with REM sleep behavior disorder

scientific article published on 13 January 2017

MAPT p.V363I mutation: A rare cause of corticobasal degeneration

scientific article published on 25 June 2019

Memory decline evolves independently of disease activity in MS.

scientific article published on 23 June 2008

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

scientific article

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

scientific article

Molecular genetics of Alzheimer’s disease

article

Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.

scientific article

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

scientific article published on 7 May 2016

Nigrostriatal dopaminergic function in subjects with isolated action tremor.

scientific article published on 14 September 2011

No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population

scientific article

No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found

scientific article published in June 2004

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

scientific article

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

Novel haplotypes in 17q21 are associated with progressive supranuclear palsy

scientific article

Orthostatic myoclonus: an underrecognized cause of unsteadiness?

scientific article published on 2 August 2013

PINK1-linked parkinsonism is associated with Lewy body pathology

scientific article published on 30 March 2010

Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis

scientific article published on 19 June 2017

Plasma levels of soluble TREM2 and neurofilament light chain in TREM2 rare variant carriers

scientific article published on 28 November 2019

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

scientific article published on 10 April 2018

Pleural and peritoneal leishmaniasis in an AIDS patient.

scientific article published on March 1997

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

Progressive supranuclear palsy: clinical and genetic aspects

scientific article

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

scientific article published on 28 September 2015

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

scientific article

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

scientific article published on 17 February 2018

Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis

scientific article published on 17 September 2013

Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease

scientific article

Recruitment curve of the soleus H reflex in patients with neurogenic claudication

scientific article published on 01 August 1998

Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism

scientific article

Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.

scientific article

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease

scientific article published on 19 April 2016

Reversible oral-facial dyskinesia in a patient receiving ciprofloxacin hydrochloride

scientific article published on 01 August 1996

Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease

scientific article published on 01 November 2019

Selective brain gray matter atrophy associated with APOE ε4 and MAPT H1 in subjects with mild cognitive impairment

scientific article published in January 2013

Serum vitamin D, vitamin D receptor and binding protein genes polymorphisms in restless legs syndrome

scientific article published on 21 November 2020

Significant association between the tau gene A0/A0 genotype and Parkinson's disease

scientific article published in February 2000

Structural brain changes in Parkinson disease with dementia: a voxel-based morphometry study

scientific article published in February 2005

Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation

scientific article published on 01 August 2018

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

scientific article published on 23 December 2016

TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study

scientific article published on 24 December 2014

TREM2 and Neurodegenerative Disease

scientific article published on 01 October 2013

TREM2 is associated with the risk of Alzheimer's disease in Spanish population

scientific article published on 5 February 2013

Tau gene delN296 mutation, Parkinson's disease, and atypical supranuclear palsy.

scientific article published in March 2004

The Effect of MAPT H1 and APOE ε4 on Transition from Mild Cognitive Impairment to Dementia

scientific article published on 01 January 2010

Thr105Ile (rs11558538) polymorphism in the histamine-1-methyl-transferase (HNMT) gene and risk for restless legs syndrome

scientific article published on 11 November 2016

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

scientific article published on 12 February 2009

Update on genetics of essential tremor.

scientific article published on 18 May 2013

Usefulness of Positron Emission Tomography With Fludeoxyglucose F 18 and With Carbon 11–Tagged Methionine in the Diagnosis of Hippocampal Lesions

Utilidad de las secuencias potenciadas en susceptibilidad paramagnética (SWI) para diferenciar crisis somestésicas de accidentes isquémicos transitorios en un paciente con angiopatía amiloide cerebral

scientific article published on 01 May 2011

[Cerebral vascular complications in Conn's disease: report of two cases]

scientific article published on 01 May 1995

[New pharmacologic strategies for the treatment of Parkinson disease]

scientific article published on 01 May 1999

[Pseudothrombocytopenia of 5 years of development]

scientific article published on 01 October 1995

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