Genomic investigation of alpha-synuclein multiplication and parkinsonism (Q37362778)

19 August 2017

Genomic investigation of alpha-synuclein multiplication and parkinsonism (English)

1 reference

19 August 2017

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16

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19 August 2017

9

Thomas Gasser

1 reference

19 August 2017

Adam T Braithwaite

2

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Julia Fuchs

Julia Fuchs

8

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Lisa Skipper

Lisa M Skipper

Marie-Christine Chartier-Harlin

3

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Marie-Christine Chartier-Harlin

13

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Matthew J. Farrer

Matthew J Farrer

18

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Nobutaka Hattori

17

Nobutaka Hattori

1 reference

19 August 2017

11

Charles H Adler

1 reference

19 August 2017

1

Owen A Ross

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19 August 2017

4

Kachergus J

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19 August 2017

5

Hulihan MM

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19 August 2017

6

Middleton FA

1 reference

19 August 2017

7

Nishioka K

1 reference

19 August 2017

PMCID

3850281

Demetrius M. Maraganore

10

Maraganore DM

1 reference

19 August 2017

12

Larvor L

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19 August 2017

14

Nilsson C

1 reference

19 August 2017

15

Langston JW

1 reference

19 August 2017

PMCID

3850281

language of work or name

English

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publication date

1 June 2008

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19 August 2017

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19 August 2017

63

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19 August 2017

743-750

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19 August 2017

6

1 reference

A comprehensive analysis of common copy-number variations in the human genome

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Global variation in copy number in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Parkinson's disease: the genetics of a heterogeneous disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Genetics of Parkinson disease: paradigm shifts and future prospects.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Alterations of tumor suppressor and tumor-related genes in the development and progression of gastric cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

High-resolution whole-genome association study of Parkinson disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

The wide spectrum of spinocerebellar ataxias (SCAs)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Whole-genome analysis of Alu repeat elements reveals complex evolutionary history

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

VISTA: computational tools for comparative genomics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

alpha-Synuclein locus triplication causes Parkinson's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Genome-wide loss of heterozygosity analysis from laser capture microdissected prostate cancer using single nucleotide polymorphic allele (SNP) arrays and a novel bioinformatics platform dChipSNP.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Alu repeats and human genomic diversity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Hereditary form of parkinsonism--dementia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

High-resolution single-nucleotide polymorphism array and clustering analysis of loss of heterozygosity in human lung cancer cell lines

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

The ups and downs of alpha-synuclein mRNA expression.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Unexpected rescue of alpha-synuclein and multimerin1 deletion in C57BL/6JOlaHsd mice by beta-adducin knockout.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Transcriptional analysis of multiple brain regions in Parkinson's disease supports the involvement of specific protein processing, energy metabolism, and signaling pathways, and suggests novel disease mechanisms.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Deletion of multimerin-1 in alpha-synuclein-deficient mice.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Alpha synuclein promoter and risk of Parkinson's disease: microsatellite and allelic size variability

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850281

Loss of epigenetic control of synuclein-gamma gene as a molecular indicator of metastasis in a wide range of human cancers

3 December 2018

1 reference

12 December 2020

Genomewide SNP assay reveals mutations underlying Parkinson disease

1 reference

12 December 2020

alpha-synuclein gene haplotypes are associated with Parkinson's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.21380

1 reference

19 August 2017

1 reference

19 August 2017

1 reference

PMCID

3850281