(Q30628518)

19 October 2017

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations (English)

1 reference

19 October 2017

1 reference

1 reference

frontotemporal dementia

1 reference

inferred from title

parkinsonian syndrome

1 reference

Kailash Phatechand Bhatia

inferred from title

author

15

object named as

Kailash P Bhatia

1 reference

19 October 2017

Alan M Pittman

11

0 references

John Anthony Hardy

17

object named as

John Hardy

1 reference

19 October 2017

16

Niall Quinn

1 reference

19 October 2017

13

Andrew B Singleton

1 reference

19 October 2017

9

Dena G Hernandez

1 reference

19 October 2017

18

Janice L Holton

1 reference

19 October 2017

8

Amelie Pandraud

1 reference

19 October 2017

5

Seth Love

1 reference

19 October 2017

Eleanna Kara

1

1 reference

19 October 2017

Aoife P Kiely

2

1 reference

19 October 2017

Christos Proukakis

3

1 reference

19 October 2017

Nicola Giffin

4

1 reference

19 October 2017

Jason Hehir

6

1 reference

19 October 2017

Khadija Rantell

7

1 reference

19 October 2017

Elizabeth Nacheva

10

1 reference

19 October 2017

Mike A Nalls

12

1 reference

19 October 2017

Tamas Revesz

14

1 reference

19 October 2017

Henry Houlden

19

1 reference

19 October 2017

language of work or name

English

0 references

publication date

1 September 2014

1 reference

19 October 2017

1 reference

19 October 2017

71

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19 October 2017

9

1 reference

19 October 2017

1162-1171

1 reference

describes a project that uses

19 October 2017

1 reference

10 June 2022

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&rettype=xml&id=4362700

cites work

Multi-level modelling of longitudinal child growth data from the Birth-to-Twenty Cohort: a comparison of growth models

1 reference

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Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Distinct α-synuclein strains differentially promote tau inclusions in neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Alternative α-synuclein transcript usage as a convergent mechanism in Parkinson's disease pathology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Genome wide assessment of young onset Parkinson's disease from Finland

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

A genome-wide analysis of common fragile sites: what features determine chromosomal instability in the human genome?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

A two-stage meta-analysis identifies several new loci for Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Genome-wide association study reveals genetic risk underlying Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Expanding the clinical phenotype of SNCA duplication carriers

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Genomic investigation of alpha-synuclein multiplication and parkinsonism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Are men at greater risk for Parkinson's disease than women?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

alpha-Synuclein locus triplication causes Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

DSPP mutation in dentinogenesis imperfecta Shields type II

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

A note on robust variance estimation for cluster-correlated data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Alpha-synuclein in Lewy bodies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Sample size tables for logistic regression

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

A case of α-synuclein gene duplication presenting with head-shaking movements.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Estimating multilevel logistic regression models when the number of clusters is low: a comparison of different statistical software procedures.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Heterogeneity in male to female risk for Parkinson's disease

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Characterization of a conserved aphidicolin-sensitive common fragile site at human 4q22 and mouse 6C1: possible association with an inherited disease and cancer

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Autosomal dominant diffuse Lewy body disease

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

Development of a clinical prediction model for an ordinal outcome: the World Health Organization Multicentre Study of Clinical Signs and Etiological agents of Pneumonia, Sepsis and Meningitis in Young Infants. WHO/ARI Young Infant Multicentre Study G

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362700

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

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25003242

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25003242

12 December 2020

inferred from PubMed ID database lookup

Repetitive elements and genome instability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25003242

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1001/JAMANEUROL.2014.994

1 reference

19 October 2017

1 reference

19 October 2017

1 reference