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List of works by Dominique Campion

A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila

scientific article published on 11 February 2020

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations

scientific article published on 10 July 2019

A case of logopenic primary progressive aphasia with C9ORF72 expansion and cortical florbetapir binding

scientific article

A concordance study of three electrophysiological measures in schizophrenia

scientific article published in March 2005

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

scientific article published on 23 September 2015

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

scientific article

A diagnosis of idiopathic basal ganglia calcification in an 82-year-old man.

scientific article published in November 2013

A diagnostic scale for Alzheimer's disease based on cerebrospinal fluid biomarker profiles

scientific article

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

scientific article published on December 14, 2011

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

scientific article

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

scientific article

A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism

scientific article published on 01 May 2003

A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease

scientific article

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

scientific article

ABCA7 rare variants and Alzheimer disease risk

scientific article published on April 2016

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review

scientific article published on 14 November 2016

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

scientific article

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

scientific article

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

scientific article published on November 25, 2011

Amyloid imaging with AV45 ((18)F-florbetapir) in a cognitively normal AβPP duplication carrier

scientific article published on 01 January 2012

Amyloid precursor protein controls cholesterol turnover needed for neuronal activity

scientific article published on April 2013

Amyloid-β Protein Precursor Gene Expression in Alzheimer's Disease and Other Conditions ⬇️

scientific article published on 01 January 2012

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

article

Association between the extended tau haplotype and frontotemporal dementia

scientific article published in June 2002

Association study of the GAB2 gene with the risk of developing Alzheimer's disease

scientific article published on 5 January 2008

Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease

scientific article

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

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

scientific article

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

scientific article published in January 2018

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

scientific article published on 01 June 2019

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques

scientific article published on October 2006

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

scientific article published on 14 October 2010

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

scientific article

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years

scientific article published on 01 January 2019

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

scientific article (publication date: May 2011)

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

scientific article

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

scientific article published on 14 July 2017

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease

scientific article published on 01 January 2019

Copy number variations involving the microtubule-associated protein tau in human diseases ⬇️

scientific article published on August 1, 2012

Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

scientific article published on 21 October 2015

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

scientific article published on 21 October 2019

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

scientific article published on 19 February 2007

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

scientific article published on 07 February 2020

Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers.

scientific article published in January 2012

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

scientific article published on 28 April 2017

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

article

Dementia in middle-aged patients with schizophrenia

scientific article published in January 2014

Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons

scientific article published on 23 August 2019

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

scientific article published on 26 June 2020

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease

scientific article

Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male

scientific article published on 01 November 2003

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

EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics ⬇️

scientific article published on September 7, 2012

Early neurological phenotype in 4 children with biallelic PRODH mutations

scientific article

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.

scientific article published on 20 November 2017

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

scientific article

FTLD/ALS-linked TDP-43 mutations do not alter TDP-43's ability to self-regulate its expression in Drosophila

scientific article published on 17 May 2018

Filamin-A and Myosin VI colocalize with fibrillary Tau protein in Alzheimer's disease and FTDP-17 brains

scientific article published on 10 May 2010

From Common to Rare Variants: The Genetic Component of Alzheimer Disease.

scientific article published on 22 December 2016

Frontotemporal dementia phenotype associated with MAPT gene duplication

scientific article published in January 2010

Gene-wide analysis detects two new susceptibility genes 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

Genome-wide analysis of genetic loci associated with Alzheimer disease

scientific article

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

scientific article published in October 2013

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

scientific article (publication date: October 2009)

Genome-wide association study of multiplex schizophrenia pedigrees.

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

scientific article published on 07 June 2020

Hyperprolinemia is not associated with childhood onset schizophrenia

scientific article published in March 2006

Identification of TCERG1 as a new genetic modulator of TDP-43 production in Drosophila

scientific article published on 12 December 2018

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

scientific article published on June 2016

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

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

article

Inhibition of proteasome and Shaggy/Glycogen synthase kinase-3beta kinase prevents clearance of phosphorylated tau in Drosophila.

scientific article published in October 2006

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

scientific article published on 29 November 2006

Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?

scientific article

Is the saitohin gene involved in neurodegenerative diseases?

scientific article (publication date: December 2002)

Is the urea cycle involved in Alzheimer's disease?

scientific article

MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype

scientific article published in January 2013

Manic Depressive Illness and Tyrosine Hydroxylase Gene: Linkage Heterogeneity and Association

article

Medical and developmental risk factors of catatonia in children and adolescents: a prospective case-control study

scientific article published on 7 March 2012

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

scientific article

Moderate Overexpression of Tau in Drosophila Exacerbates Amyloid-β-Induced Neuronal Phenotypes and Correlates with Tau Oligomerization

scientific article published on 01 January 2020

Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia

scientific article published on 01 July 2010

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

scientific article

Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

scientific article published on April 2015

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

scientific article published on December 19, 2012

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

scientific article

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

scientific article

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

scientific article published in April 2007

Neuron-to-Neuron Transfer of FUS in Drosophila Primary Neuronal Culture Is Enhanced by ALS-Associated Mutations.

scientific article published on 20 April 2017

No pathogenic rearrangement within the DISC 1 gene in psychosis

scientific article published in January 2009

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

scientific article published on 3 November 2009

No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease.

scientific article published in December 2003

Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification

P50 inhibitory gating deficit is correlated with the negative symptomatology of schizophrenia

scientific article published in July 2005

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

PLD3 and sporadic Alzheimer's disease risk

scientific article published in April 2015

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

scientific article (publication date: 15 September 2002)

Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.

scientific article

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration

scientific article published on 28 January 2014

Phenotype associated with APP duplication in five families

scientific article published on 7 September 2006

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

scientific article published in February 2008

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

scientific article published on 24 September 2013

Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease

scientific article published in August 2002

Primary brain calcification: an international study reporting novel variants and associated phenotypes

scientific article published on 28 June 2018

Progranulin null mutations in both sporadic and familial frontotemporal dementia

scientific article published on 01 September 2007

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

scientific article

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

scientific article published on 24 February 2020

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

scientific article

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

scientific article published on 25 March 2019

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

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

Seizures in dominantly inherited Alzheimer disease

scientific article published on 27 July 2016

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

scientific article (publication date: 15 May 2003)

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

scientific article published on 13 August 2018

Splicing factors act as genetic modulators of TDP-43 production in a new autoregulatory TDP-43 Drosophila model

scientific article published on September 2017

Study of thyroid hormone receptor alpha gene polymorphisms on Alzheimer's disease

scientific article

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

article

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

scientific article published on April 2009

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

scientific article published on January 1, 2013

TYROBP genetic variants in early-onset Alzheimer's disease

scientific article published on 8 August 2016

Tau is not normally degraded by the proteasome

scientific article

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

scientific article published on 14 January 2016

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

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

Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.

scientific article

Type I hyperprolinemia: genotype/phenotype correlations

scientific article published in August 2010

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype

scientific article published in December 2005

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

scientific article published on 06 April 2015

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

article

XPR1 mutations are a rare cause of primary familial brain calcification.

scientific article

ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia.

scientific article

[APP duplication causes autosomal dominant Alzheimer disease with cerebral amyloid angiopathy]

scientific article published on 01 May 2006

[Familial forms of Alzheimer's disease]

scientific article published on 01 May 2003

[Genetics of schizophrenia: is the complement component 4 a risk factor?]

scientific article published on 01 June 2016

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