Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Validation of next-generation sequencing technologies in genetic diagnosis of dementia.

Neurobiology of aging - 1 Jan 2014

Beck John, Pittman Alan, Adamson Gary, Campbell Tracy, Kenny Joanna, Houlden Henry, Rohrer Jon D, de Silva Rohan, Shoai Maryam, Uphill James, Poulter Mark, Hardy John, Mummery Catherine J, Warren Jason D, Schott Jonathan M, Fox Nick C, Rossor Martin N, Collinge John, Mead Simon

Abstract excerpt

Identification of a specific genetic cause of early onset dementia (EOD) is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of gene tests. Here we assess the use of next generation sequencing (NGS) technologies as a quick, accurate and cost effective method to determine genetic diagnosis in EOD. We developed gene panel based technologies to assess 16 genes known to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyloid beta-Protein Precursor
Share to C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dementia

Share to DNA Repeat Expansion

Share to Molecular Diagnostic Techniques

Share to Prion Proteins

Share to Prions

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 23998997
DOI: 10.1016/j.neurobiolaging.2013.07.017

Genes

APP
PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Validation of next-generation sequencing technologies in genetic diagnosis of dementia.PMID 23998997Read ↗

Clinical application of whole genome sequencing in young onset dementia: challenges and opportunities.Semantic proximity Read ↗

Clinical impact of whole-genome sequencing in patients with early-onset dementiaSemantic proximity Read ↗

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.Semantic proximity Read ↗

Genetic testing in dementia - utility and clinical strategies.Semantic proximity Read ↗

Clinical exome sequencing in dementias: a preliminary study.Semantic proximity Read ↗

Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer's disease and frontotemporal dementia.Semantic proximity Read ↗

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.Semantic proximity Read ↗

Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing.Semantic proximity Read ↗

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegenerationSemantic proximity Read ↗

Next Generation Sequencing in Alzheimer's Disease.Semantic proximity Read ↗

The Utility of Next-Generation Sequencing for Identifying the Genetic Basis of Dementia.Semantic proximity Read ↗

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.