| 1 |
35595154 | A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia. | 2022 May 17 |
1 |
| 2 |
34299126 | Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner. | 2021 Jul 13 |
1 |
| 3 |
34692905 | Construction of DNA/RNA Triplex Helices Based on GAA/TTC Trinucleotide Repeats. | 2021 Sep 20 |
2 |
| 4 |
31399954 | Exploring the Potential of Small Molecule-Based Therapeutic Approaches for Targeting Trinucleotide Repeat Disorders. | 2020 Jan |
1 |
| 5 |
32821947 | Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA/DNA hybrids. | 2020 Sep 25 |
1 |
| 6 |
30874991 | Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia. | 2019 Apr |
1 |
| 7 |
31680804 | Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich's Ataxia (FRDA) Patients. | 2019 |
1 |
| 8 |
28605995 | DNA trinucleotide (GAA) repeats in human genome: hint for disease pathogenesis? | 2018 Jun |
1 |
| 9 |
30076049 | Activating frataxin expression by single-stranded siRNAs targeting the GAA repeat expansion. | 2018 Sep 15 |
1 |
| 10 |
30159187 | Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases. | 2018 |
1 |
| 11 |
30235822 | Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon? | 2018 Sep 19 |
1 |
| 12 |
28282710 | Early-Onset Friedreich's Ataxia With Oculomotor Apraxia. | 2017 Feb |
1 |
| 13 |
28451558 | Comparison of Two Different PCR-based Methods for Detection of GAA Expansions in Frataxin Gene. | 2017 Feb |
1 |
| 14 |
28653660 | Phosphate steering by Flap Endonuclease 1 promotes 5'-flap specificity and incision to prevent genome instability. | 2017 Jun 27 |
1 |
| 15 |
26842135 | Activating frataxin expression by repeat-targeted nucleic acids. | 2016 Feb 4 |
1 |
| 16 |
27417533 | A dynamic trinucleotide repeat (TNR) expansion in the DMD gene. | 2016 Aug |
3 |
| 17 |
26180750 | Familial segmental spinal myoclonus: a rare clinical feature of Friedreich's ataxia. | 2015 |
1 |
| 18 |
26301374 | Atypical Presentation for Friedreich Ataxia in a Child. | 2015 Sep |
1 |
| 19 |
24291012 | Genome-wide scan for analysis of simple and imperfect microsatellites in diverse carlaviruses. | 2014 Jan |
1 |
| 20 |
24749505 | Cell and gene therapy for Friedreich ataxia: progress to date. | 2014 Aug |
1 |
| 21 |
25606453 | In- silico exploration of thirty alphavirus genomes for analysis of the simple sequence repeats. | 2014 Dec |
1 |
| 22 |
23418481 | Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia. | 2013 |
1 |
| 23 |
23454978 | Friedreich's ataxia-associated GAA repeats induce replication-fork reversal and unusual molecular junctions. | 2013 Apr |
1 |
| 24 |
23533785 | Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy. | 2013 |
1 |
| 25 |
22752493 | Clinical features of Friedreich ataxia. | 2012 Sep |
1 |
| 26 |
23280845 | Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes. | 2012 Dec |
1 |
| 27 |
20506029 | Variations of frataxin protein levels in normal individuals. | 2011 Apr |
1 |
| 28 |
21051337 | Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats. | 2011 Mar |
1 |
| 29 |
21181307 | Generation of induced pluripotent stem cell lines from Friedreich ataxia patients. | 2011 Sep |
1 |
| 30 |
21249181 | Friedreich's ataxia (GAA)n•(TTC)n repeats strongly stimulate mitotic crossovers in Saccharomyces cerevisae. | 2011 Jan 13 |
1 |
| 31 |
21486239 | Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. | 2011 Mar |
2 |
| 32 |
21985033 | Friedreich's ataxia: the vicious circle hypothesis revisited. | 2011 Oct 11 |
1 |
| 33 |
20103114 | A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels. | 2010 Feb 5 |
1 |
| 34 |
20156111 | Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. | 2010 Sep 1 |
1 |
| 35 |
19718722 | A small molecule affecting the replication of trinucleotide repeat d(GAA)n. | 2009 Oct 12 |
1 |
| 36 |
18759347 | Predictors of progression in patients with Friedreich ataxia. | 2008 Oct 30 |
1 |
| 37 |
16316739 | Expansion of GAA trinucleotide repeats in mammals. | 2006 Jan |
2 |
| 38 |
16581313 | Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia. | 2006 Apr |
1 |
| 39 |
14978261 | Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH. | 2004 |
1 |
| 40 |
11810294 | Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland. | 2002 Jan |
1 |
| 41 |
11843702 | Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene. | 2002 Feb |
2 |
| 42 |
11862710 | [Association of polymorphic trinucleotide repeat (GAA)n of the Frataxin gene with diabetes mellitus type 2 in the Moscow population]. | 2002 Jan-Feb |
1 |
| 43 |
11907009 | Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. | 2002 Apr |
1 |
| 44 |
12112211 | Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. | 2002 May |
2 |
| 45 |
11269509 | The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia. | 2001 |
1 |
| 46 |
11351269 | Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review). | 2001 Jun |
1 |
| 47 |
11748752 | Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia. | 2001 Nov |
1 |
| 48 |
10869006 | Early onset of Friedreich's ataxia in a compound heterozygote. | 2000 Jul |
1 |
| 49 |
10896266 | Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia. | 2000 May |
1 |
| 50 |
11038274 | Detection of triplet repeat expansion in the human genome by use of hybridization signal intensity. | 2000 Nov 1 |
1 |