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Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Variabilidad fenotípica y paraclínica de la ataxia espinocerebelosa 17 (SCA17) en población mexicana.
- Published in:
- Archivos de Neurociencias, 2008, v. 13, p. 8
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- Publication type:
- Article
Variabilidad fenotípica y paraclínica de la ataxia espinocerebelosa 17 (SCA17) en población mexicana.
- Published in:
- Archivos de Neurociencias, 2007, v. 12, p. 24
- By:
- Publication type:
- Article
Distribución única en población mexicana de ataxia espinocerebelosa autosómica dominante.
- Published in:
- Archivos de Neurociencias, 2007, v. 12, p. 8
- By:
- Publication type:
- Article
Inestabilidad meiótica y fenómeno de anticipación en ataxia espinocerebelosa tipo 17 (SCA17).
- Published in:
- Archivos de Neurociencias, 2007, v. 12, p. 1
- By:
- Publication type:
- Article
Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 4, p. 522, doi. 10.1002/ana.24249
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- Publication type:
- Article
A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Pms2 Suppresses Large Expansions of the (GAA·TTC)<sub>n</sub> Sequence in Neuronal Tissues.
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047085
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- Publication type:
- Article
Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.752921
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- Publication type:
- Article
Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 11, p. 5095, doi. 10.1093/nar/gkw107
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- Publication type:
- Article
Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. 2, p. 526, doi. 10.1093/nar/gkq788
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- Publication type:
- Article
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 1, doi. 10.1186/1471-2350-11-4
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- Publication type:
- Article
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09002-5
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- Publication type:
- Article
Repair of DNA double-strand breaks within the (GAA•TTC)n sequence results in frequent deletion of the triplet-repeat sequence.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 2, p. 489
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- Publication type:
- Article
Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA·TTC)n sequence when GAA is the lagging strand template.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 20, p. 6884, doi. 10.1093/nar/gkm810
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- Publication type:
- Article
Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 21, p. 6352, doi. 10.1093/nar/gkl846
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- Publication type:
- Article
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 19, p. 5962, doi. 10.1093/nar/gkh933
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- Publication type:
- Article
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09002-5
- By:
- Publication type:
- Article
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3818, doi. 10.1093/hmg/ddaa267
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- Publication type:
- Article
Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 6, p. 607, doi. 10.1002/ana.21139
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- Publication type:
- Article
Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patients.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 1, p. 55, doi. 10.1002/ana.21052
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- Publication type:
- Article
Friedreich ataxia in carriers of unstable borderline GAA triplet‐repeat alleles.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 6, p. 898
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- Publication type:
- Article
The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2175, doi. 10.1093/hmg/11.18.2175
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- Publication type:
- Article
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.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2425, doi. 10.1093/hmg/8.13.2425
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- Publication type:
- Article
FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138437
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- Publication type:
- Article
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
- Published in:
- 2022
- By:
- Publication type:
- journal article