Autosomal dominant Parkinson's disease caused by SNCA duplications (Q36765217)

16 August 2017

Autosomal dominant Parkinson's disease caused by SNCA duplications (English)

1 reference

16 August 2017

1 reference

5

Zbigniew K Wszolek

1 reference

16 August 2017

2

Owen A Ross

1 reference

16 August 2017

Takuya Konno

1

1 reference

16 August 2017

Andreas Puschmann

series ordinal

3

1 reference

16 August 2017

Dennis W Dickson

series ordinal

4

1 reference

16 August 2017

3 September 2015

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Parkinsonism and Related Disorders

16 August 2017

1 reference

16 August 2017

22 Suppl 1

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16 August 2017

S1-6

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Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Genetics of Parkinson's disease: the yield

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Update on novel familial forms of Parkinson's disease and multiple system atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

The neuropathology of genetic Parkinson's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Expanding the clinical phenotype of SNCA duplication carriers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Genomic investigation of alpha-synuclein multiplication and parkinsonism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson's disease. Variability in familial Parkinson's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Diversity of pathological features other than Lewy bodies in familial Parkinson's disease due to SNCA mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Hippocampal degeneration differentiates diffuse Lewy body disease (DLBD) from Alzheimer's disease: Light and electron microscopic immunocytochemistry of CA2-3 neurites specific to DLBD

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Subthalamic deep brain stimulation for a Parkinson's disease patient with duplication of SNCA.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Successful subthalamic stimulation in genetic Parkinson's disease caused by duplication of the α-synuclein gene.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Cardiac sympathetic denervation in Parkinson's disease linked to SNCA duplication

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Autosomal dominant diffuse Lewy body disease

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820832

Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease

5 September 2018

1 reference

12 December 2020

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

1 reference

12 December 2020

Clinical Features of Familial Diffuse Lewy Body Disease

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.PARKRELDIS.2015.09.007

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

26350119

1 reference