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Trinucleotide repeat expansion
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Keyword
keyword
Trinucleotide repeat expansion
RIS
0.001
(Research Intensity Score)
Papers
26
Top papers
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
2022 · 256 citations
Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice
2025 · 28 citations
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions
2025 · 20 citations
Blocking somatic repeat expansion and lowering huntingtin via RNA interference synergize to prevent Huntington’s disease pathogenesis in mice
2025 · 8 citations
Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience
2025 · 7 citations
Toxic PR n poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export
2017 · 256 citations
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
2014 · 999 citations
High Prevalence of the Intronic GAA- FGF14 Repeat Expansion in Dutch Patients With Late-Onset Ataxia
2025 · 6 citations
Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia
2025 · 3 citations
Newest papers
Nuclear aging in polyglutamine-induced neurodegeneration
2026 · 1 citations
Trinucleotide Repeat (TNR) expansions mining algorithm based on the Apriori algorithm
2026
Autophagy at the Crossroads of Protein and RNA Toxicity in Repeat Expansion Cerebellar Ataxias
2026
Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice
2025 · 28 citations
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions
2025 · 20 citations
Blocking somatic repeat expansion and lowering huntingtin via RNA interference synergize to prevent Huntington’s disease pathogenesis in mice
2025 · 8 citations
Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience
2025 · 7 citations
High Prevalence of the Intronic GAA- FGF14 Repeat Expansion in Dutch Patients With Late-Onset Ataxia
2025 · 6 citations
Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia
2025 · 3 citations
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