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Quadruple genetic variants in a sporadic ALS patient.

Rüstem YilmazKanchi WeishauptIvan ValkadinovAntje KnehrDavid BrennerJochen H Weishaupt
Published in: Molecular genetics & genomic medicine (2022)
Our study suggests that SALS can be caused by the additive or synergistic action of low-effect size mutations. Broader use of gene panel analysis or whole exome/genome sequencing may reveal a potentially treatable oligogenic causation in a higher percentage of SALS than previously thought.
Keyphrases
  • genome wide
  • copy number
  • single cell
  • amyotrophic lateral sclerosis
  • helicobacter pylori
  • late onset
  • dna methylation
  • drug delivery
  • transcription factor