List of works - Javier Simón Sánchez

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 homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

scientific article published on 3 March 2016

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 7 December 2012

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 13 November 2013

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies

scientific article published on 17 December 2016

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

scientific article published in April 2005

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

scientific article published on October 2013

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

scientific article

Cervical dystonia and genetic common variation in the dopamine pathway

scientific article published on 14 September 2012

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

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

scientific article

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

scientific article published on 30 January 2017

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

scientific article

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Genome-wide association study reveals genetic risk underlying Parkinson's disease

scientific article

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

scientific journal article

Genomewide SNP assay reveals mutations underlying Parkinson disease

scientific article published on 01 February 2008

Genotype, haplotype and copy-number variation in worldwide human populations

scientific article (publication date: 21 February 2008)

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.

scientific article published in February 2006

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 replication of association between GIGYF2 variants and Parkinson disease.

scientific article

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

scientific article

Parkinson disease GWAS: the question of lumping or splitting is back again

scientific article published on 6 February 2015

Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques

scientific article published on 01 November 2006

Profiling transcription initiation in human aged brain using deep-CAGE.

scientific article published on 21 November 2011

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

scientific article published on 13 February 2013

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

scientific article published on February 2012

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report

scientific article published on 3 November 2016

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

scientific article

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

scientific article published on 13 August 2012

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease

scientific article published on 14 February 2013

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

scientific article

List of works by Javier Simón Sánchez

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

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

Cervical dystonia and genetic common variation in the dopamine pathway

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

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Genome-wide association study reveals genetic risk underlying Parkinson's disease

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

Genomewide SNP assay reveals mutations underlying Parkinson disease

Genotype, haplotype and copy-number variation in worldwide human populations

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.

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

Lack of replication of association between GIGYF2 variants and Parkinson disease.

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

Parkinson disease GWAS: the question of lumping or splitting is back again

Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques

Profiling transcription initiation in human aged brain using deep-CAGE.

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.