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

Authors
  • Tripolszki, Kornélia1
  • Török, Dóra1
  • Goudenège, David2
  • Farkas, Katalin3
  • Sulák, Adrienn1
  • Török, Nóra4
  • Engelhardt, József I4
  • Klivényi, Péter4
  • Procaccio, Vincent2
  • Nagy, Nikoletta1, 3
  • Széll, Márta1, 3
  • 1 Department of Medical GeneticsUniversity of SzegedSzegedHungary. , (Hungary)
  • 2 Département de Biochimie et GénétiqueIBS-CHU AngersAngers Cedex 9France. , (France)
  • 3 MTA SZTE Dermatological Research GroupUniversity of SzegedSzegedHungary. , (Hungary)
  • 4 Department of NeurologyUniversity of SzegedSzegedHungary. , (Hungary)
Type
Published Article
Journal
Brain and behavior
Publication Date
Apr 01, 2017
Volume
7
Issue
4
Identifiers
DOI: 10.1002/brb3.669
PMID: 28413711
Source
Medline
Keywords
License
Unknown

Abstract

Our study contributes to the understanding of the genetic and phenotypic diversity of motor neuron diseases (MNDs). Our results also suggest that the elucidation of the genetic background of MNDs requires a complex approach, including the screening of both Mendelian and non-Mendelian genes.

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