List of works - Dominique Campion

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

scientific article (publication date: October 2009)

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Genome-wide analysis of genetic loci associated with Alzheimer disease

scientific article

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

scientific article

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

scientific article

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

scientific article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

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

scientific article

A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk

scientific article

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

scientific article published on April 2009

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

scientific article published in February 2008

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

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

scientific article

Phenotype associated with APP duplication in five families

scientific article published on 7 September 2006

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

scientific article published on December 19, 2012

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

scientific article (publication date: 15 September 2002)

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

scientific article

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

scientific article published on 29 November 2006

Implication of the Immune System in Alzheimer's Disease: Evidence from Genome-Wide Pathway Analysis

article

Progranulin null mutations in both sporadic and familial frontotemporal dementia

scientific article published on 01 September 2007

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

scientific article published on September 24, 2013

TREM2 R47H Variant as a Risk Factor for Early-Onset Alzheimer's Disease

scientific article published on January 1, 2013

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

scientific article published in April 2007

Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila.

scientific article published on 19 February 2007

Amyloid precursor protein controls cholesterol turnover needed for neuronal activity

scientific article published on April 2013

ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease

scientific article

The French Series of Autosomal Dominant Early Onset Alzheimer's Disease Cases: Mutation Spectrum and Cerebrospinal Fluid Biomarkers

scientific article published on January 1, 2012

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

scientific article

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

scientific article

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes

scientific article

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

scientific article

Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies.

scientific article published on 14 October 2010

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

scientific article

Systematic Analysis of Candidate Genes for Alzheimer's Disease in a French, Genome-Wide Association Study

article

No replication of genetic association between candidate polymorphisms and Alzheimer's disease

scientific article published on 3 November 2009

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

scientific article

A concordance study of three electrophysiological measures in schizophrenia

scientific article published in March 2005

Drosophila models of human tauopathies indicate that Tau protein toxicity in vivo is mediated by soluble cytosolic phosphorylated forms of the protein.

scientific article published on 27 February 2010

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

scientific article published on December 14, 2011

Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila

scientific article published on November 25, 2011

Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis

article

Genome-wide association study of multiplex schizophrenia pedigrees.

scientific article

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

scientific article published on 06 April 2015

PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

article by Gaël Nicolas et al published 7 March 2014 in Journal of Molecular Neuroscience

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

scientific article

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

scientific article published on 05 August 2015

PLD3 and sporadic Alzheimer's disease risk

scientific article published in April 2015

List of works by Dominique Campion

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Genome-wide analysis of genetic loci associated with Alzheimer disease

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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

A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

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

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Phenotype associated with APP duplication in five families

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

Implication of the Immune System in Alzheimer's Disease: Evidence from Genome-Wide Pathway Analysis

Progranulin null mutations in both sporadic and familial frontotemporal dementia

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

TREM2 R47H Variant as a Risk Factor for Early-Onset Alzheimer's Disease

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila.

Amyloid precursor protein controls cholesterol turnover needed for neuronal activity

ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease

The French Series of Autosomal Dominant Early Onset Alzheimer's Disease Cases: Mutation Spectrum and Cerebrospinal Fluid Biomarkers

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

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies.

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

Systematic Analysis of Candidate Genes for Alzheimer's Disease in a French, Genome-Wide Association Study

No replication of genetic association between candidate polymorphisms and Alzheimer's disease

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

A concordance study of three electrophysiological measures in schizophrenia

Drosophila models of human tauopathies indicate that Tau protein toxicity in vivo is mediated by soluble cytosolic phosphorylated forms of the protein.

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila

Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis

Genome-wide association study of multiplex schizophrenia pedigrees.

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

PLD3 and sporadic Alzheimer's disease risk