List of works - Dominique Campion

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

scientific article

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

scientific article published in August 2002

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

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

article

Association between the extended tau haplotype and frontotemporal dementia

scientific article published in June 2002

ABCA7 rare variants and Alzheimer disease risk

scientific article published on April 2016

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

scientific article published on 5 January 2008

Is the urea cycle involved in Alzheimer's disease?

scientific article

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

scientific article

Is the saitohin gene involved in neurodegenerative diseases?

scientific article (publication date: December 2002)

Tau is not normally degraded by the proteasome

scientific article

TYROBP genetic variants in early-onset Alzheimer's disease

scientific article published on 8 August 2016

Frontotemporal dementia phenotype associated with MAPT gene duplication

scientific article published in January 2010

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype

scientific article published in December 2005

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

scientific article published on October 2006

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

scientific article

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

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

scientific article published on September 7, 2012

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

scientific article (publication date: 15 May 2003)

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

scientific article published in July 2005

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

scientific article published on April 2015

Early neurological phenotype in 4 children with biallelic PRODH mutations

scientific article

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

Seizures in dominantly inherited Alzheimer disease

scientific article published on 27 July 2016

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

scientific article

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

scientific article

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

scientific article published on 7 March 2012

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

scientific article published on 01 July 2010

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

scientific article published on August 1, 2012

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

scientific article published in October 2006

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

scientific article published in January 2012

Type I hyperprolinemia: genotype/phenotype correlations

scientific article published in August 2010

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

scientific article published on 13 August 2018

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

scientific article

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

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

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

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

scientific article published on 01 January 2012

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

scientific article

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

scientific article published on June 2016

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

scientific article published on 22 December 2016

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

scientific article

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

scientific article published on 28 June 2018

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

scientific article published on 23 September 2015

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

scientific article

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

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

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

scientific article

Hyperprolinemia is not associated with childhood onset schizophrenia

scientific article published in March 2006

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

scientific article published on 20 November 2017

List of works by Dominique Campion

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

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

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

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

Association between the extended tau haplotype and frontotemporal dementia

ABCA7 rare variants and Alzheimer disease risk

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

Is the urea cycle involved in Alzheimer's disease?

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

Is the saitohin gene involved in neurodegenerative diseases?

Tau is not normally degraded by the proteasome

TYROBP genetic variants in early-onset Alzheimer's disease

Frontotemporal dementia phenotype associated with MAPT gene duplication

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype

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

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

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

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

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

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

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

Early neurological phenotype in 4 children with biallelic PRODH mutations

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

Seizures in dominantly inherited Alzheimer disease

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

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

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

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

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

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

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

Type I hyperprolinemia: genotype/phenotype correlations

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Hyperprolinemia is not associated with childhood onset schizophrenia

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