| P50 | author | Marek Napierala | Q111632390 |
| P2093 | author name string | David R Lynch | |
| | Arnulf H Koeppen | |
| | Lauren Hauser | |
| | Jill S Napierala | |
| | Urszula Polak | |
| | Ashlee Long | |
| P2860 | cites work | The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure | Q24538667 |
| | Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia | Q24634126 |
| | Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s Disease | Q27311065 |
| | Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes | Q28249379 |
| | Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion | Q28275699 |
| | Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia. | Q30539140 |
| | Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data | Q30883193 |
| | Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions. | Q33841806 |
| | Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability | Q34330367 |
| | The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. | Q34435679 |
| | A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia | Q35144024 |
| | Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats | Q35179287 |
| | DNA mismatch repair complex MutSβ promotes GAA·TTC repeat expansion in human cells | Q36215972 |
| | Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells | Q36216018 |
| | Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus | Q36302082 |
| | Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations | Q36658216 |
| | Clinical features of Friedreich ataxia | Q36907337 |
| | Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia | Q37223281 |
| | Friedreich ataxia: the clinical picture | Q37414025 |
| | Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example | Q38784205 |
| | Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia. | Q39786829 |
| | The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues | Q40149163 |
| | Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. | Q40241487 |
| | Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia | Q40405624 |
| | Mortality in Friedreich ataxia | Q43524683 |
| | Friedreich's ataxia: the European consortium | Q46051665 |
| | Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers. | Q47104232 |
| | The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model | Q48402943 |
| | Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming | Q48670933 |
| | Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. | Q50857914 |
| | Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system. | Q52193253 |
| | Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. | Q54559399 |
| | HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia | Q57599152 |
| | DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing | Q59071144 |
| | Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features | Q70901775 |
| | Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence | Q73168981 |
| | Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion | Q73343750 |
| | A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism | Q74257429 |
| | The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions | Q74633178 |
| | Expanded GAA repeats and clinical variation in Friedreich's ataxia | Q79341713 |
| | Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life | Q80325491 |
| | Expansion of GAA trinucleotide repeats in mammals | Q81550110 |
| P275 | copyright license | Creative Commons CC0 License | Q6938433 |
| P6216 | copyright status | copyrighted, dedicated to the public domain by copyright holder | Q88088423 |
| P4510 | describes a project that uses | ImageJ | Q1659584 |
| P433 | issue | 12 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Friedreich ataxia | Q913856 |
| P304 | page(s) | e0189990 | |
| P577 | publication date | 2017-12-19 | |
| P1433 | published in | PLOS One | Q564954 |
| P1476 | title | Somatic instability of the expanded GAA repeats in Friedreich's ataxia | |
| P478 | volume | 12 | |