Genetics of Progressive Supranuclear Palsy (Q26785904)

Creative Commons Attribution-NonCommercial 3.0 Unported

volume

8

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page(s)

122-9

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issue

3

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copyright license

start time

10 September 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Three sib-pairs of autopsy-confirmed progressive supranuclear palsy

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Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges

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Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

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

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

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Frontotemporal lobar degeneration: a clinical approach.

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New perspective on parkinsonism in frontotemporal lobar degeneration.

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

28 September 2017

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The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease

28 September 2017

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Familial progressive supranuclear palsy: a literature review

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Criteria for the diagnosis of corticobasal degeneration

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Frontotemporal dementia: implications for understanding Alzheimer disease

28 September 2017

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Behavioral changes as the earliest clinical manifestation of progressive supranuclear palsy

28 September 2017

1 reference

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

28 September 2017

1 reference

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Neuropathology of variants of progressive supranuclear palsy

28 September 2017

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Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond

28 September 2017

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Familial aggregation of parkinsonism in progressive supranuclear palsy.

28 September 2017

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Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy

28 September 2017

1 reference

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

28 September 2017

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The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

28 September 2017

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The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases

28 September 2017

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Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

28 September 2017

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

28 September 2017

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28 September 2017

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Tau haplotypes regulate transcription and are associated with Parkinson's disease.

28 September 2017

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PROGRESSIVE SUPRANUCLEAR PALSY. A HETEROGENEOUS DEGENERATION INVOLVING THE BRAIN STEM, BASAL GANGLIA AND CEREBELLUM WITH VERTICAL GAZE AND PSEUDOBULBAR PALSY, NUCHAL DYSTONIA AND DEMENTIA.

28 September 2017

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Tau mutations in frontotemporal dementia FTDP-17 and their relevance for Alzheimer's disease

28 September 2017

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Corticobasal degeneration look-alikes

28 September 2017

1 reference

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

28 September 2017

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Clinical genetics of familial progressive supranuclear palsy.

28 September 2017

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Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

28 September 2017

1 reference

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

28 September 2017

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Autopsy-proven progressive supranuclear palsy in two siblings

28 September 2017

1 reference

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Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop

28 September 2017

1 reference

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Familial progressive supranuclear palsy.

28 September 2017

1 reference

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Preliminary NINDS neuropathologic criteria for Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy).

28 September 2017

1 reference

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Familial progressive supranuclear palsy. Description of a pedigree and review of the literature

28 September 2017

1 reference

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Prevalence and natural history of 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=4572662

Novel haplotypes in 17q21 are associated 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=4572662

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=4572662

Further observations in progressive supranuclear palsy

31 May 2018

1 reference

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Progressive supranuclear palsy-like syndrome in two siblings of a consanguineous marriage

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Neuroanatomical correlates of the progressive supranuclear palsy corticobasal syndrome hybrid

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Autopsy-proven progressive supranuclear palsy presenting as behavioral variant frontotemporal dementia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Screening for LRRK2 R1441 mutations in a cohort of PSP patients from Germany.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Familial neurodegeneration in progressive supranuclear palsy: more frequent than expected?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

The tau S305S mutation causes frontotemporal dementia with parkinsonism.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Atypical progressive supranuclear palsy with corticospinal tract degeneration.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Neuropathology in the S305S tau gene mutation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Lrrk2 R1441 substitution and progressive supranuclear palsy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Atypical progressive supranuclear palsy underlying progressive apraxia of speech and nonfluent aphasia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

The structure of the tau haplotype in controls and in progressive supranuclear palsy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

The prevalence of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) in the UK.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Neurofibrillary pathology of Alzheimer's disease and other tauopathies.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Tau is a candidate gene for chromosome 17 frontotemporal dementia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Genetic evidence for the involvement of tau in progressive supranuclear palsy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Familial progressive supranuclear palsy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

New form of familial Parkinson-dementia syndrome: clinical and pathologic findings.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572662

Prevalence of progressive supranuclear palsy in Yonago, Japan

28 November 2018

1 reference

12 December 2020

Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS

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

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease

1 reference

12 December 2020

Neurodegenerative tauopathies: human disease and transgenic mouse models

1 reference

Crossref

https://api.crossref.org/works/10.14802%2FJMD.15033

7 January 2021

inferred from DOI database lookup

Progressive supranuclear palsy: a heterogeneous degeneration involving the brain stem, Basal Ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia.

1 reference

Crossref

https://api.crossref.org/works/10.14802%2FJMD.15033

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.14802/JMD.15033

1 reference

268767

268767

1 reference

1 reference

1 reference