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

Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.

Neurobiology of aging - 1 Dec 2014

Liu Zhi-Jun, Li Hong-Fu, Tan Guo-He, Tao Qing-Qing, Ni Wang, Cheng Xue-Wen, Xiong Zhi-Qi, Wu Zhi-Ying

Abstract excerpt

To date, at least 18 causative genes have been identified in amyotrophic lateral sclerosis (ALS). Because of the clinical and genetic heterogeneity, molecular diagnosis for ALS faces great challenges. HaloPlex target enrichment system is a new targeted sequencing approach, which can detect already known mutations or candidate genes. We performed this approach to screen 18 causative genes of ALS, including SOD1,...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to Dynactin Complex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Microtubule-Associated Proteins

Share to Mutation, Missense

Share to Superoxide Dismutase

Share to Superoxide Dismutase-1

Source

Identifiers

PMID: 25109764
DOI: 10.1016/j.neurobiolaging.2014.07.003

Genes

DCTN1
SOD1
ALS2
ANG
DAO
FIG4
FUS
OPTN
PFN1
SETX
SIGMAR1
SPG11
SQSTM1
TARDBP
UBQLN2
VAPB
VCP

Variants

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

Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.PMID 25109764Read ↗

High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.Semantic proximity Read ↗

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic FormsSemantic proximity Read ↗

FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.Semantic proximity Read ↗

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis.Semantic proximity Read ↗

Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.Semantic proximity Read ↗

Mutation spectrum of amyotrophic lateral sclerosis in Central South China.Semantic proximity Read ↗

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.Semantic proximity Read ↗

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

Mutation spectrum of Chinese patients with familial and sporadic amyotrophic lateral sclerosisSemantic proximity Read ↗

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.Semantic proximity Read ↗

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

Next Generation Sequencing and ALS: known genes, different phenotyphes.Semantic proximity Read ↗

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