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Article

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

Brain and behavior - 1 Apr 2017

Tripolszki Kornélia, Török Dóra, Goudenège David, Farkas Katalin, Sulák Adrienn, Török Nóra, Engelhardt József I, Klivényi Péter, Procaccio Vincent, Nagy Nikoletta, Széll Márta

Abstract excerpt

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of the motor neurons. To date, 126 genes have been implicated in ALS. Therefore, the heterogenous genetic background of ALS requires comprehensive genetic investigative approaches. METHODS: In this study, DNA from 28 Hungarian ALS patients was subjected to targeted high-throughput sequencing of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28413711
DOI: 10.1002/brb3.669
PMCID: PMC5390843

Genes

SETX
FUS

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.

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