Progressive supranuclear palsy: pathology and genetics (Q36817215)

16 August 2017

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title

Progressive supranuclear palsy: pathology and genetics (English)

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progressive supranuclear palsy

16 August 2017

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1

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16 August 2017

2

Rosa Rademakers

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16 August 2017

Michael L Hutton

3

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16 August 2017

1 January 2007

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16 August 2017

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16 August 2017

17

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16 August 2017

1

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16 August 2017

74-82

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Structure and novel exons of the human tau gene

16 August 2017

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Haplotype-specific expression of exon 10 at the human MAPT locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Lack of association between progressive supranuclear palsy and arterial hypertension: a clinicopathological study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Genetic evidence for the involvement of tau in progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Differences in a dinucleotide repeat polymorphism in the tau gene between Caucasian and Japanese populations: implication for progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Ballooned neurons in select neurodegenerative diseases contain phosphorylated neurofilament epitopes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Office of Rare Diseases neuropathologic criteria for corticobasal degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Presymptomatic hypertension is a major feature in the diagnosis of progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Constant neurofibrillary changes in the neocortex in progressive supranuclear palsy. Basic differences with Alzheimer's disease and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Microglial activation parallels system degeneration in progressive supranuclear palsy and corticobasal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Rates of cerebral atrophy in autopsy-confirmed progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Astrocytic plaques and tufts of abnormal fibers do not coexist in corticobasal degeneration and progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Autopsy case of pure akinesia showing pallidonigro-luysian atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Update on epidemiological aspects of progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Astrocytic pathology in progressive supranuclear palsy: significance for neuropathological diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Mental rotation of perspective stimuli in a California sea lion (Zalophus californianus).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Glial fibrillary tangles with straight tubules in the brains of patients with progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Decreased beta-amyloid peptide42 in cerebrospinal fluid of patients with progressive supranuclear palsy and corticobasal degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

New and reliable MRI diagnosis for progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Quantitative MRI measurement of superior cerebellar peduncle in progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Longitudinal MRI in progressive supranuclear palsy and multiple system atrophy: rates and regions of atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Tau is a candidate gene for chromosome 17 frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

The role of tau (MAPT) in frontotemporal dementia and related tauopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Parkinsonism, Lrrk2 G2019S, and tau neuropathology

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Corticodentatonigral Degeneration With Neuronal Achromasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Clinical genetics of familial progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

A common inversion under selection in Europeans

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

The basal nucleus of Meynert in patients with progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Ultrastructure of Neurofibrillary Tangles in Steele-Richardson-Olszewski Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Ballooned neurons in progressive supranuclear palsy are usually due to concurrent argyrophilic grain disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Argyrophilic grain disease is a sporadic 4-repeat tauopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Ballooned neurons expressing alphaB-crystallin as a constant feature of the amygdala in argyrophilic grain disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Lewy bodies are not increased in progressive supranuclear palsy compared with normal controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

APOE E4 is a determinant for Alzheimer type pathology in progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Atrophy of superior cerebellar peduncle in progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Cholinergic systems in progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Significant Changes in the Tau A0 and A3 Alleles in Progressive Supranuclear Palsy and Improved Genotyping by Silver Detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

Lrrk2 R1441 substitution and progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00054.X

10.1111/J.1750-3639.2007.00054.X

21 January 2018

Identifiers

DOI

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16 August 2017

1 reference

PubMed ID

17493041