Positions

Selected Publications

Book

Year Title Altmetric
2015 DNA triplet repeat expansion and mismatch repair.  Ed. 84.  2015

Chapter

Year Title Altmetric
2008 Toxic RNA in pathogenesis of human neuromuscular disorders.  325-353. 2008
2006 Involvement of genetic recombination in microsatellite instability.  597-615. 2006
2006 Structural characteristics of trinucleotide repeats in transcripts.  705-713. 2006

Principal Investigator On

  • Correction of the Friederich's Ataxia Gene Defect Using Zinc Finger Nucleases  awarded by Muscular Dystrophy Association
  • Defining The Molecular Signature of Friedreich's Ataxia to Identify Novel Biomarkers  awarded by Friedreich's Ataxia Research Alliance
  • Defining the Impact of Frataxin Point Mutations on Friedreich's Ataxia pathogenesis  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS
  • Designing Models and Testing Therapeutic Approaches for Friedreich’s Ataxia  awarded by Friedreich's Ataxia Research Alliance
  • Friedreich's Ataxia Induced Pluripotent Stem Cells (iPSCs) Repository.  awarded by Friedreich's Ataxia Research Alliance
  • GAA Repeats Induced Epigenetic Silencing in Friedreich's Ataxia  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS
  • GAA Repeats Induced Epigenetic Silencing in Friedrich's Ataxia  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS
  • Isolation of Friedreich's Ataxia Fibroblast Cell Lines  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA)
  • Mechanism of FXN Silencing  awarded by Friedreich's Ataxia Research Alliance
  • New GAA Expansion Mouse for Efficacy Studies of Treatments for Friedreich Ataxia  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS
  • Oligonucleotide-Mediated Therapy of Friedreich’s Ataxia  awarded by Muscular Dystrophy Association
  • Private Grant  awarded by RANA THERAPEUTICS
  • Private Grant  awarded by BIOMARIN PHARMACEUTICAL, INC.
  • Private Grant  awarded by CRISPR THERAPEUTICS AG
  • Private Grant  awarded by PTC THERAPEUTICS, INC.
  • Testing GAA Specific Oligos in FRDA Cell Lines  awarded by Friedreich's Ataxia Research Alliance
  • The Role of Mitochondrial DNA Mutations in Neuronal Degeneration in Friedreich's Ataxia  awarded by National Ataxia Foundation
  • Education And Training

  • Doctor of Philosophy in Biochemistry, 1999
  • Full Name

  • Marek Napierala