A comprehensive screening of copy number variability in dementia with Lewy bodies (Q93191817)

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4 May 2020

title

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

1 reference

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dementia with Lewy bodies

4 May 2020

main subject

1 reference

3

1 reference

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Claire E Shepherd

7

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Sonja Scholz

11

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4 May 2020

Pau Pastor

44

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Mónica Díez-Fairen

45

1 reference

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Minna Oinas

49

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Rita Guerreiro

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Jose Bras

68

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27

Henrik Zetterberg

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55

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Dena G Hernandez

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Lee Darwent

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Safa Al-Sarraj

33

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Alberto Lleó

18

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21

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20

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Jordi Clarimón

17

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Afina Lemstra

23

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36

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54

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56

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Glenda M. Halliday

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64

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Michael G Heckman

10

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John C. Morris

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Andrew John Lees

51

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Andrew Lees

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Kristelle Brown

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Tatiana Orme

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Anne Braae

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37

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Pentti J Tienari

47

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John Hardy

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publication date

24 October 2018

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4 May 2020

published in

Neurobiology of Aging

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volume

75

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4 May 2020

page(s)

223.e1-223.e10

1 reference

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

4 May 2020

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

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Transcriptional network analysis in frontal cortex in Lewy body diseases with focus on dementia with Lewy bodies

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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.

11 February 2021

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17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

11 February 2021

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

11 February 2021

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Distribution and Load of Amyloid-β Pathology in Parkinson Disease and Dementia with Lewy Bodies.

11 February 2021

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Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations

11 February 2021

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Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

11 February 2021

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Altered Mitochondria, Protein Synthesis Machinery, and Purine Metabolism Are Molecular Contributors to the Pathogenesis of Creutzfeldt-Jakob Disease.

11 February 2021

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MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies.

11 February 2021

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Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

11 February 2021

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Exome sequencing in dementia with Lewy bodies

11 February 2021

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

11 February 2021

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Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases

11 February 2021

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Genome-wide association study of neocortical Lewy-related pathology

11 February 2021

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CHCHD2 and Parkinson's disease.

11 February 2021

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Genome-wide copy-number variation study of psychosis in Alzheimer's disease.

11 February 2021

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Mutation analysis of CHCHD10 in different neurodegenerative diseases

11 February 2021

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SnapShot: Genetics of ALS and FTD.

11 February 2021

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SnapShot: Genetics of Parkinson's disease

11 February 2021

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11 February 2021

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A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease

11 February 2021

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11 February 2021

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

11 February 2021

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SnapShot: genetics of Alzheimer's disease

11 February 2021

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11 February 2021

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Increased Rate of Sporadic and Recurrent Rare Genic Copy Number Variants in Parkinson's Disease Among Ashkenazi Jews

11 February 2021

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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

11 February 2021

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11 February 2021

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Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder

11 February 2021

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Analysis of copy number variation in Alzheimer's disease: the NIALOAD/ NCRAD Family Study

11 February 2021

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Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

11 February 2021

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DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

11 February 2021

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Copy number variation in familial Parkinson disease

11 February 2021

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Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study

11 February 2021

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Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease

11 February 2021

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A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

11 February 2021

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A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease

11 February 2021

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Frontotemporal dementia phenotype associated with MAPT gene duplication.

11 February 2021

1 reference

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Genome-wide scan of copy number variation in late-onset Alzheimer's disease

11 February 2021

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No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration

11 February 2021

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Microduplications of 16p11.2 are associated with schizophrenia

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Association of glucocerebrosidase mutations with dementia with lewy bodies

11 February 2021

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

11 February 2021

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

11 February 2021

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A genome-wide investigation of SNPs and CNVs in schizophrenia

11 February 2021

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Intrafamilial diversity of phenotype associated with app duplication.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Frontotemporal dementia mimicking dementia with Lewy bodies

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Large recurrent microdeletions associated with schizophrenia

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Association between microdeletion and microduplication at 16p11.2 and autism

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Progranulin locus deletion in frontotemporal dementia

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

MAPT gene duplications are not a cause of frontotemporal lobar degeneration.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

alpha-Synuclein gene duplication is present in sporadic Parkinson disease.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

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

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Distribution, type, and origin of Parkin mutations: review and case studies

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Beta-synuclein gene alterations in dementia with Lewy bodies

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

α-Synuclein Is Degraded by Both Autophagy and the Proteasome

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Is dementia with Lewy bodies the second most common cause of dementia?

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

beta-amyloid peptides enhance alpha-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Alpha-synuclein in Lewy bodies

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Autosomal dominant Lewy body parkinsonism in a four-generation family

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

The CYP2D6B mutant allele is overrepresented in the Lewy body variant of Alzheimer's disease.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6541211

10.1016/J.NEUROBIOLAGING.2018.10.019

11 February 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30448004%20AND%20SRC:MED&resulttype=core&format=json

4 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30448004%20AND%20SRC:MED&resulttype=core&format=json

4 May 2020

1 reference