Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration (Q37619559)

21 August 2017

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

1 reference

corticobasal degeneration

21 August 2017

1 reference

1 reference

21 August 2017

Leonard Petrucelli

1 reference

21 August 2017

Ryan J Uitti

1 reference

21 August 2017

Zbigniew K Wszolek

1 reference

21 August 2017

Rosa Rademakers

1 reference

21 August 2017

Owen A Ross

1 reference

21 August 2017

Bradley F Boeve

1 reference

21 August 2017

Neill R Graff-Radford

series ordinal

object named as

Neill R Graff-Radford

1 reference

21 August 2017

Keith A Josephs

1 reference

21 August 2017

Joseph E Parisi

1 reference

21 August 2017

Naomi Kouri

1 reference

21 August 2017

Michael A DeTure

1 reference

21 August 2017

Amanda M Liesinger

1 reference

21 August 2017

Yari Carlomagno

1 reference

21 August 2017

Matthew Baker

series ordinal

1 reference

21 August 2017

Richard J Caselli

series ordinal

1 reference

21 August 2017

1 February 2014

1 reference

21 August 2017

Acta Neuropathologica

1 reference

21 August 2017

127

1 reference

21 August 2017

1 reference

21 August 2017

271-282

1 reference

Exome sequencing in familial corticobasal degeneration

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Three repeat isoforms of tau inhibit assembly of four repeat tau filaments

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

PLINK: a tool set for whole-genome association and population-based linkage analyses

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

No alteration in tau exon 10 alternative splicing in tangle-bearing neurons of the Alzheimer's disease brain

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Tau suppression in a neurodegenerative mouse model improves memory function

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Hereditary tauopathies and parkinsonism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Neuropathologic differentiation of progressive supranuclear palsy and corticobasal degeneration

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Corticobasal degeneration: a pathologically distinct 4R tauopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Novel haplotypes in 17q21 are associated with progressive supranuclear palsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7.

25 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

1 September 2018

https://api.crossref.org/works/10.1007%2FS00401-013-1193-7

A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Office of Rare Diseases neuropathologic criteria for corticobasal degeneration.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Pathologic heterogeneity in clinically diagnosed corticobasal degeneration

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Genetic evidence for the involvement of tau in progressive supranuclear palsy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943649

Clinical and neuropathologic features of progressive supranuclear palsy with severe pallido-nigro-luysial degeneration and axonal dystrophy

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00401-013-1193-7

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00401-013-1193-7

Disulfide-cross-linked tau and MAP2 homodimers readily promote microtubule assembly

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24121548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24121548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24121548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00401-013-1193-7

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24121548

1 reference