(Q34244138)

31 July 2017

title

Nonsense mutation in PRNP associated with clinical Alzheimer's disease (English)

1 reference

31 July 2017

0 references

5

John Hardy

1 reference

31 July 2017

1

Rita Guerreiro

1 reference

31 July 2017

4

Rosa Rademakers

1 reference

31 July 2017

José Brás

2

1 reference

31 July 2017

Aleksandra Wojtas

series ordinal

3

1 reference

31 July 2017

Neill Graff-Radford

series ordinal

6

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31 July 2017

publication date

27 May 2014

1 reference

31 July 2017

published in

Neurobiology of Aging

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31 July 2017

volume

35

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31 July 2017

issue

11

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31 July 2017

page(s)

2656.e13-6

1 reference

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

A novel prion disease associated with diarrhea and autonomic neuropathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

SnapShot: genetics of Alzheimer's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

TREM2 Variants in Alzheimer's Disease

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175176

High frequency of mutations in four different disease genes in early-onset dementia

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24958194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2014.05.013

1 reference

31 July 2017

1 reference

31 July 2017

1 reference