Lista de obras - Dominique Campion - Dominio Público Uruguay

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

A concordance study of three electrophysiological measures in schizophrenia

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

ABCA7 rare variants and Alzheimer disease risk

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2002

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

article

Dementia in middle-aged patients with schizophrenia

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Early neurological phenotype in 4 children with biallelic PRODH mutations

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Frontotemporal dementia phenotype associated with MAPT gene duplication

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

Genome-wide analysis of genetic loci associated with Alzheimer disease

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Genome-wide association study of multiplex schizophrenia pedigrees.

artículo científico publicado en 2012

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

artículo científico publicado en 2020

Hyperprolinemia is not associated with childhood onset schizophrenia

artículo científico publicado en 2006

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Is the saitohin gene involved in neurodegenerative diseases?

artículo científico publicado en 2002

Is the urea cycle involved in Alzheimer's disease?

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

No pathogenic rearrangement within the DISC 1 gene in psychosis.

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 2015

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

artículo científico publicado en 2002

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Phenotype associated with APP duplication in five families

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2002

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

artículo científico publicado en 2018

Progranulin null mutations in both sporadic and familial frontotemporal dementia

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Seizures in dominantly inherited Alzheimer disease

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico

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

artículo científico publicado en 2009

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

artículo científico

TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.

artículo científico publicado en 2013

TYROBP genetic variants in early-onset Alzheimer's disease

artículo científico publicado en 2016

Tau is not normally degraded by the proteasome

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

article

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

artículo científico publicado en 2008

Type I hyperprolinemia: genotype/phenotype correlations

artículo científico publicado en 2010

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

artículo científico publicado en 2005

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

artículo científico

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

[Familial forms of Alzheimer's disease]

artículo científico publicado en 2003

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

scientific article published on 01 June 2016

Lista de obras de Dominique Campion

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

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

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

A concordance study of three electrophysiological measures in schizophrenia

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.

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

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

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

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

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

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

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

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

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

ABCA7 rare variants and Alzheimer disease risk

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

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

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

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

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

Amyloid precursor protein controls cholesterol turnover needed for neuronal activity

Amyloid-β protein precursor gene expression in alzheimer's disease and other conditions

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

Association between the extended tau haplotype and frontotemporal dementia.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Dementia in middle-aged patients with schizophrenia

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

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

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

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

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

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

Early neurological phenotype in 4 children with biallelic PRODH mutations

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

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

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

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

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

Frontotemporal dementia phenotype associated with MAPT gene duplication

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

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

Genome-wide analysis of genetic loci associated with Alzheimer disease

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

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

Genome-wide association study of multiplex schizophrenia pedigrees.

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

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

Hyperprolinemia is not associated with childhood onset schizophrenia

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

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

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

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

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

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

Is the saitohin gene involved in neurodegenerative diseases?

Is the urea cycle involved in Alzheimer's disease?