(Q26779001)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

3 references

23 July 2020

10 September 2020

8 October 2022

Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

0 references

0 references

multiple system atrophy

3 references

25 April 2019

23 July 2020

10 September 2020

parkinsonian syndrome

3 references

25 April 2019

23 July 2020

8 October 2022

progressive supranuclear palsy

3 references

25 April 2019

23 July 2020

10 September 2020

genetic predisposition to disease

2 references

23 July 2020

10 September 2020

1 reference

2 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jose Bras

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Sonja W Scholz

series ordinal

1

0 references

language of work or name

English

0 references

publication date

16 October 2015

5 references

25 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

23 July 2020

10 September 2020

8 October 2022

International Journal of Molecular Sciences

4 references

25 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

23 July 2020

8 October 2022

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

24629-24655

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution

28 February 2020

copyright license

4 references

25 April 2019

23 July 2020

10 September 2020

8 October 2022

0 references

on focus list of Wikimedia project

ScienceSource

0 references

cites work

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7 April 2017

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p25alpha relocalizes in oligodendroglia from myelin to cytoplasmic inclusions in multiple system atrophy

7 April 2017

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GAKIN, a novel kinesin-like protein associates with the human homologue of the Drosophila discs large tumor suppressor in T lymphocytes

7 April 2017

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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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Accuracy of the clinical diagnosis of corticobasal degeneration: a clinicopathologic study

7 April 2017

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Mapping of a gene for Parkinson's disease to chromosome 4q21-q23

7 April 2017

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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

7 April 2017

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The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia

7 April 2017

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Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

7 April 2017

1 reference

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

7 April 2017

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Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review

7 April 2017

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Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

28 September 2017

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Natural history of multiple system atrophy in the USA: a prospective cohort study

28 September 2017

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Variants associated with Gaucher disease in multiple system atrophy

28 September 2017

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A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques

28 September 2017

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28 September 2017

Multiple-system atrophy

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LRRK2 exonic variants and risk of multiple system atrophy

28 September 2017

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The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases

28 September 2017

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Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

28 September 2017

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Neuropathology of multiple system atrophy: new thoughts about pathogenesis

28 September 2017

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28 September 2017

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A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study

28 September 2017

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28 September 2017

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The brainstem pathologies of Parkinson's disease and dementia with Lewy bodies.

28 September 2017

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

28 September 2017

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Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

28 September 2017

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Alpha-synuclein mRNA expression in oligodendrocytes in MSA.

28 September 2017

1 reference

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Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

28 September 2017

1 reference

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KIF13B enhances the endocytosis of LRP1 by recruiting LRP1 to caveolae.

28 September 2017

1 reference

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DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes

28 September 2017

1 reference

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Transmission of multiple system atrophy prions to transgenic mice

28 September 2017

1 reference

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Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

28 September 2017

1 reference

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Exome sequencing in familial corticobasal degeneration

28 September 2017

1 reference

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Mutations in COQ2 in familial and sporadic multiple-system atrophy

28 September 2017

1 reference

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Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

A novel α-synuclein missense mutation in Parkinson disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

APOE ε4 increases risk for dementia in pure synucleinopathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

The natural history of multiple system atrophy: a prospective European cohort study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Criteria for the diagnosis of corticobasal degeneration

28 September 2017

1 reference

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The many faces of α-synuclein: from structure and toxicity to therapeutic target

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

The genetics of dementia with Lewy bodies: what are we missing?

28 September 2017

1 reference

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Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

FUS and TDP43 genetic variability in FTD and CBS

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin 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=4632769

Genetic players in multiple system atrophy: unfolding the nature of the beast

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Sporadic corticobasal syndrome due to FTLD-TDP.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Is the pathology of corticobasal syndrome predictable in life?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

SNCA variants are associated with increased risk for multiple system atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Progressive supranuclear palsy: pathology and genetics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Quantitative PCR-based screening of alpha-synuclein multiplication in multiple system atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Transport of PIP3 by GAKIN, a kinesin-3 family protein, regulates neuronal cell polarity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

The North American Multiple System Atrophy Study Group

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Paraneoplastic progressive supranuclear palsy syndrome in a patient with B-cell lymphoma.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Parkinsonism among Gaucher disease carriers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Tau protein and neurodegeneration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Diagnostic accuracy of progressive supranuclear palsy in the Society for Progressive Supranuclear Palsy brain bank

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Neuropathological spectrum of synucleinopathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Lyme-associated parkinsonism: a neuropathologic case study and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Differential regulation of microtubule dynamics by three- and four-repeat tau: implications for the onset of neurodegenerative disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Progressive supranuclear palsy phenotype secondary to CADASIL.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Familial dementia with Lewy bodies with an atypical clinical presentation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Do published criteria improve clinical diagnostic accuracy in multiple system atrophy?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

The accuracy of diagnosis of parkinsonian syndromes in a specialist movement disorder service

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Effect of ApoE and tau on age of onset of progressive supranuclear palsy and multiple system atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Syntaxin 6: the promiscuous behaviour of a SNARE protein.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Ataxia associated with Hashimoto's disease: progressive non-familial adult onset cerebellar degeneration with autoimmune thyroiditis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Mitochondrial dysfunction in cybrid lines expressing mitochondrial genes from patients with progressive supranuclear palsy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Prevalence of progressive supranuclear palsy and multiple system atrophy: a cross-sectional study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Alzheimer's disease pathology in motor cortex in dementia with Lewy bodies clinically mimicking corticobasal degeneration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Incidence of progressive supranuclear palsy and multiple system atrophy in Olmsted County, Minnesota, 1976 to 1990.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Apolipoprotein E e4 allele frequency in patients with multiple system atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Possible clinical overlap between postencephalitic parkinsonism and progressive supranuclear palsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Progressive supranuclear palsy as the sole manifestation of systemic Whipple's disease treated with pefloxacine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Cerebellar syndrome in myxoedema revisited: a published case with carcinomatosis and multiple system atrophy at necropsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Cholinergic imaging in corticobasal syndrome, progressive supranuclear palsy and frontotemporal dementia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Analysis of the expression level of alpha-synuclein mRNA using postmortem brain samples from pathologically confirmed cases of multiple system atrophy

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

A "cortico-basal degeneration"-like syndrome as first sign of progressive multifocal leukoencephalopathy

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Filamentous alpha-synuclein inclusions link multiple system atrophy with Parkinson's disease and dementia with Lewy bodies

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Familial parkinsonism, dementia, and Lewy body disease: study of family G.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies: a clinical and pathological study.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Alterations of GABAergic neurons in the basal ganglia of patients with progressive supranuclear palsy: an in situ hybridization study of GAD67 messenger RNA.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Filamentous aggregates in Pick's disease, progressive supranuclear palsy, and Alzheimer's disease share antigenic determinants with microtubule-associated protein, tau.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Definite multiple system atrophy in a German family

31 May 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Multiplex families with multiple system atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Mutant COQ2 in multiple-system atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Mutation scanning of the COQ2 gene in ethnic Chinese patients with multiple-system atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Gene expression changes in postmortem tissue from the rostral pons of multiple system atrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Transcriptional changes in multiple system atrophy and Parkinson's disease putamen

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Reply to: SNCA variants are associated with increased risk of multiple system atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

SNCA variants rs2736990 and rs356220 as risk factors for Parkinson's disease but not for amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

SNCA variants and multiple system atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Features of probable multiple system atrophy patients identified among 4770 patients with parkinsonism enrolled in the multicentre registry of the German Competence Network on Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Early-onset familial parkinsonism due to POLG mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

The frequency of spinocerebellar ataxia type 23 in a UK population.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

LRRK2 mutations on Crete: R1441H associated with PD evolving to PSP.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

A novel PSEN2 mutation associated with a peculiar phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Intrafamilial diversity of phenotype associated with app duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Supranuclear gaze palsy in familial Creutzfeldt-Jakob disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Familial Creutzfeldt-Jakob disease with M232R mutation presented with corticobasal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Gluten sensitivity in Japanese patients with adult-onset cerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Lewy body and Alzheimer pathology in a family with the amyloid-beta precursor protein APP717 gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Office of Rare Diseases neuropathologic criteria for corticobasal degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Excessive dopamine neuron loss in progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Nigrostriatal upregulation of 5-HT2A receptors correlates with motor dysfunction in progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Association of an extended haplotype in the tau gene with progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Genetic evidence for the involvement of tau in progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Parkin polymorphisms in progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Neuropathology in the S305S tau gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Normal distribution of apolipoprotein E alleles in progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Neurodegenerative disorders mimicking progressive supranuclear palsy: a report of three cases

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Pathologic heterogeneity in clinically diagnosed corticobasal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

A case of Creutzfeldt-Jakob disease mimicking corticobasal degeneration: FDG PET, SPECT, and MRI findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Progressive "vascular" corticobasal syndrome due to bilateral ischemic hemispheric lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike?

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Primary antiphospholipid syndrome presenting as a corticobasal degeneration syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Incidence of Parkinson's disease and atypical parkinsonism: Russian population-based study.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Identification of amino-terminally cleaved tau fragments that distinguish progressive supranuclear palsy from corticobasal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Dementia with Lewy bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

A survey of genetic human cortical gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Lrrk2 R1441 substitution and progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Effect of MAPT and APOE on prognosis of progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Familial aggregation in atypical Parkinson’s disease: a case control study in multiple system atrophy and progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Mutant COQ2 in Multiple-System Atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Sporadic SCA8 mutation resembling corticobasal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS161024629

Asymmetric myoclonic parietal syndrome in a patient with Alzheimer's disease mimicking corticobasal degeneration.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Familial dementia with Lewy bodies (DLB).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4632769

Alpha-1-antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA)

28 November 2018

1 reference

12 December 2020

What is the accuracy of the clinical diagnosis of multiple system atrophy? A clinicopathologic study

1 reference

12 December 2020

Neurosyphilis masquerading as corticobasal degeneration

1 reference

12 December 2020

Vascular corticobasal syndrome caused by unilateral internal carotid artery occlusion

1 reference

12 December 2020

Survival in multiple system atrophy

1 reference

12 December 2020

Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation

1 reference

12 December 2020

Tau genotype: no effect on onset, symptom severity, or survival in progressive supranuclear palsy

1 reference

12 December 2020

SNP rs11931074 of the SNCA gene may not be associated with multiple system atrophy in Chinese population

1 reference

12 December 2020

Heredity in multiple system atrophy

1 reference

12 December 2020

Multiple system atrophy: sporadic or familial?

1 reference

12 December 2020

The neuropathology of progressive supranuclear palsy

1 reference

12 December 2020

Apolipoprotein E in progressive supranuclear palsy in Japan

1 reference

12 December 2020

Neurosyphilis presenting as progressive supranuclear palsy

1 reference

12 December 2020

CTA/CTG expansions at the SCA 8 locus in multiple system atrophy

1 reference

12 December 2020

The ADH1C stop mutation in multiple system atrophy patients and healthy probands in the United Kingdom and Germany

1 reference

12 December 2020

[A case of an anti-Ma2 antibody-positive patient presenting with variable CNS symptoms mimicking multiple system atrophy with a partial response to immunotherapy]

1 reference

12 December 2020

Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy

1 reference

12 December 2020

Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation

1 reference

12 December 2020

Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes

1 reference

12 December 2020

Prevalence of Parkinson’s disease and atypical parkinsonian syndromes in a rural Japanese district

1 reference

12 December 2020

Interleukin-8, intercellular adhesion molecule-1 and tumour necrosis factor-alpha gene polymorphisms and the risk for multiple system atrophy

1 reference

12 December 2020

Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease

1 reference

12 December 2020

Vascular progressive supranuclear palsy

1 reference

12 December 2020

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

1 reference

12 December 2020

Clinical features of familial diffuse Lewy body disease

1 reference

12 December 2020

Hyperparathyroidism associated with parkinsonism

1 reference

12 December 2020

Interleukin-1A (-889) genetic polymorphism increases the risk of multiple system atrophy

1 reference

12 December 2020

Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype

1 reference

12 December 2020

Corticobasal Degeneration

1 reference

12 December 2020

Gliomatosis cerebri may present as an atypical parkinsonian syndrome

1 reference

12 December 2020

Definite familial multiple system atrophy with unknown genetics

1 reference

12 December 2020

Supranuclear gaze palsy and eyelid apraxia in postencephalitic parkinsonism.

1 reference

12 December 2020

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

1 reference

12 December 2020

Genetic background of apparently idiopathic sporadic cerebellar ataxia

1 reference

12 December 2020

Identifiers

DOI

10.3390/IJMS161024629

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

26501269

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501269%20AND%20SRC:MED&resulttype=core&format=json