List of works - Jose Bras

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

scientific article published on 24 October 2018

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

scientific article published on June 2013

A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.

scientific article published on 14 December 2017

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

A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation

scientific article

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

scientific article

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

scientific article published on 20 April 2016

Action Myoclonus and Seizure in Kufor-Rakeb Syndrome

scientific article published on 28 December 2017

Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause

scientific article published on 01 January 2018

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment

scientific article published on 24 May 2019

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 27 November 2019

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

scientific article

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

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

scientific article published on 29 January 2020

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Assessment of Parkinson's disease risk loci in Greece

scientific article published on 27 September 2013

Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway

scientific article published on 09 March 2017

Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation

scientific article published on 10 April 2014

CHCHD2 and Parkinson's disease.

scientific article published in July 2015

CLN6 disease caused by the same mutation originating in Pakistan has varying pathology

scientific article published on 02 June 2013

CLN8 disease caused by large genomic deletions

scientific article published on 23 November 2016

Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity

scientific article published on 31 March 2020

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus

scientific article published on 09 October 2018

Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium

scientific article

EIF4G1 mutations do not cause Parkinson's disease

scientific article published on 9 May 2015

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

scientific article

Exome sequencing in Parkinson's disease

scientific article

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation

scientific article published on 04 July 2016

Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease

scientific article published in January 2015

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

scientific article

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

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

Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease

scientific article published on 15 March 2016

Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders

scientific article

Genetics of synucleins in neurodegenerative diseases

scientific article published on 01 August 2020

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 reveals genetic risk underlying Parkinson's disease

scientific article

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

scientific article published on 27 December 2014

Heritability and genetic variance of dementia with Lewy bodies

scientific article published on 03 April 2019

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

scientific article

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease

scientific article

Influence of single nucleotide polymorphisms in COMT, MAO-A and BDNF genes on dyskinesias and levodopa use in Parkinson's disease

scientific article

Insights into TREM2 biology by network analysis of human brain gene expression data

scientific article

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

scientific article

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

scientific article published on 16 December 2017

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

scientific article

KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia

scientific article published on 25 March 2020

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

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

scientific article (publication date: September 2014)

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

scientific article published on 29 November 2017

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

scientific article

Lysosomal storage disorders and iron.

scientific article published on January 2013

Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity

scientific article published on 28 March 2019

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

Mouse models of kufor-rakeb disease link Parkinson's disease closer to neuronal ceroid lipofuscinosis, suggesting lysosomal dysfunction as shared mechanism

scientific article published on 10 January 2017

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

scientific article published on 28 March 2017

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

scientific article

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

scientific article

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array

scientific article published on 23 September 2016

Mutation of TBCK causes a rare recessive developmental disorder

scientific article published on 24 May 2016

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

scientific article

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

scientific article

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

scientific article

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

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

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

scientific article

Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family

scientific article

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia

scientific article published on 01 January 2019

Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease

scientific article published on 10 October 2017

Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.

scientific article

Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.

scientific article published on 14 July 2016

RARS2 mutations in a sibship with infantile spasms

scientific article published on 8 April 2016

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

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

scientific article

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. ⬇️

scientific article published on 28 July 2016

SNCA variants are associated with increased risk for multiple system atrophy

scientific article

Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease

scientific article published on 29 December 2015

Screening for VPS35 mutations in Parkinson's disease

scientific article published on 7 December 2011

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

scientific article

SnapShot: Genetics of ALS and FTD.

scientific article

SnapShot: Genetics of Parkinson's disease

scientific article published on 01 January 2015

SnapShot: genetics of Alzheimer's disease

scientific article

Study protocol: Insight 46 - a neuroscience sub-study of the MRC National Survey of Health and Development

scientific article

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

scientific article published on 13 April 2017

TREM2 Variants in Alzheimer's Disease

scientific article

TYROBP genetic variants in early-onset Alzheimer's disease

scientific article published on 8 August 2016

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

scientific article published on 13 January 2016

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 age factor in Alzheimer's disease

scientific article published on 20 October 2015

The clinical syndrome of dystonia with anarthria/aphonia

scientific article

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

scientific article published on 19 May 2016

Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia

scientific article published on 20 November 2019

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

scientific article published on 20 June 2012

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement

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

Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.

scientific article published on 27 November 2017

Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation

scientific article published in 2022

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

scientific article published in December 2012

List of works by Jose Bras

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

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.

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

A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

Action Myoclonus and Seizure in Kufor-Rakeb Syndrome

Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

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

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

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

Analysis of shared heritability in common disorders of the brain

Assessment of Parkinson's disease risk loci in Greece

Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway

Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation

CHCHD2 and Parkinson's disease.

CLN6 disease caused by the same mutation originating in Pakistan has varying pathology

CLN8 disease caused by large genomic deletions

Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus

Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium

EIF4G1 mutations do not cause Parkinson's disease

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

Exome sequencing in Parkinson's disease

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation

Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease

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

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

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

Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease

Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders

Genetics of synucleins in neurodegenerative diseases

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

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

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Heritability and genetic variance of dementia with Lewy bodies

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease

Influence of single nucleotide polymorphisms in COMT, MAO-A and BDNF genes on dyskinesias and levodopa use in Parkinson's disease

Insights into TREM2 biology by network analysis of human brain gene expression data

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia

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

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

Lysosomal storage disorders and iron.

Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity

Missense variant in TREML2 protects against Alzheimer's disease

Mouse models of kufor-rakeb disease link Parkinson's disease closer to neuronal ceroid lipofuscinosis, suggesting lysosomal dysfunction as shared mechanism

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array

Mutation of TBCK causes a rare recessive developmental disorder

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

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

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia

Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease

Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.

Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.

RARS2 mutations in a sibship with infantile spasms

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

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

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. ⬇️

SNCA variants are associated with increased risk for multiple system atrophy