• Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[570]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828; PubMed=32291635).
  
• Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1200]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828; PubMed=32291635).
  

PubMed=25758173; DOI=10.1038/mt.2015.41; PMCID=PMC4817761
Yan-Jie Li, Urszula Polak, Angela D. Bhalla, Natalia Rozwadowska, Jill S. Butler, David R. Lynch, Sharon Yoder Roth Dent, Marek Napierala;
Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich's ataxia.
Mol. Ther. 23:1055-1065(2015)

PubMed=27002638; DOI=10.1089/bio.2015.0117; PMCID=PMC4991587
Yan-Jie Li, Urszula Polak, Amanda D. Clark, Angela D. Bhalla, Yu-Yun Chen, Ji-Xue Li, Jennifer Farmer, Lauren Seyer, David R. Lynch, Jill S. Butler, Marek Napierala;
Establishment and maintenance of primary fibroblast repositories for rare diseases -- Friedreich's ataxia example.
Biopreserv. Biobank. 14:324-329(2016)

PubMed=29125828; DOI=10.1242/dmm.030536; PMCID=PMC5719256
Jill Sergesketter Napierala, Yan-Jie Li, Yue Lu, Kevin Lin, Lauren A. Hauser, David R. Lynch, Marek Napierala;
Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
Dis. Model. Mech. 10:1353-1369(2017)

PubMed=32291635; DOI=10.1007/s12035-020-01899-1; PMCID=PMC7253519
Julia Oliwia Misiorek, Anna Maria Schreiber, Martyna Olga Urbanek-Trzeciak, Lauren A. Hauser, David R. Lynch, Jill Sergesketter Napierala, Marek Napierala;
A comprehensive transcriptome analysis identifies FXN and BDNF as novel targets of miRNAs in Friedreich's ataxia patients.
Mol. Neurobiol. 57:2639-2653(2020)