TETSUO ASHIZAWA to Trinucleotide Repeat Expansion
This is a "connection" page, showing publications TETSUO ASHIZAWA has written about Trinucleotide Repeat Expansion.
Connection Strength
3.859
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DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases. Neurotherapeutics. 2021 07; 18(3):1710-1728.
Score: 0.670
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RNA toxicity and foci formation in microsatellite expansion diseases. Curr Opin Genet Dev. 2017 Jun; 44:17-29.
Score: 0.495
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The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10. J Neurol. 2025 Mar 11; 272(4):261.
Score: 0.217
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ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy. Cerebellum. 2025 Jan 16; 24(2):33.
Score: 0.214
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Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion. Adv Exp Med Biol. 2002; 516:79-97.
Score: 0.174
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CCG?CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. EMBO Mol Med. 2021 11 08; 13(11):e14095.
Score: 0.171
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"Mitotic drive" of expanded CTG repeats in myotonic dystrophy type 1 (DM1). Hum Mol Genet. 2001 Apr 01; 10(8):855-63.
Score: 0.165
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Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Hum Mol Genet. 1999 Dec; 8(13):2473-8.
Score: 0.150
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Therapeutic Genome Editing for Myotonic Dystrophy Type 1?Using CRISPR/Cas9. Mol Ther. 2018 Nov 07; 26(11):2617-2630.
Score: 0.138
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ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis. Ann Neurol. 2016 10; 80(4):600-15.
Score: 0.121
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Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China. PLoS One. 2015; 10(6):e0130336.
Score: 0.110
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The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis. PLoS Genet. 2015 Jan; 11(1):e1004749.
Score: 0.107
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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 Sep; 137(Pt 9):2444-55.
Score: 0.103
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Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Hum Mol Genet. 2012 Aug 15; 21(16):3558-67.
Score: 0.089
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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Mar 06; 78(10):690-5.
Score: 0.087
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Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet. 2008 Feb; 16(2):215-22.
Score: 0.065
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Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol. 2007 Jun; 61(6):607-10.
Score: 0.063
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MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. Hum Mol Genet. 2006 Jul 01; 15(13):2138-45.
Score: 0.059
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Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients. Nucleic Acids Res. 2004; 32(21):6334-46.
Score: 0.053
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Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol. 2004 Nov; 56(5):670-4.
Score: 0.053
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Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet. 2004 Jul; 75(1):3-16.
Score: 0.051
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Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn. 2004 May; 6(2):96-100.
Score: 0.051
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Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH. Nucleic Acids Res. 2004; 32(3):1224-31.
Score: 0.050
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Huntington's disease--like 2 can present as chorea-acanthocytosis. Neurology. 2003 Oct 14; 61(7):1002-4.
Score: 0.049
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Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions. Nat Rev Neurol. 2022 03; 18(3):145-157.
Score: 0.044
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Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial. PLoS One. 2020; 15(4):e0231000.
Score: 0.039
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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. Hum Mol Genet. 1999 Dec; 8(13):2425-36.
Score: 0.038
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Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias. Tremor Other Hyperkinet Mov (N Y). 2017; 7:492.
Score: 0.032
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Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease. Brain. 2017 04 01; 140(4):e25.
Score: 0.031
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High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression. Cerebellum. 2015 Dec; 14(6):677-81.
Score: 0.028
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Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3. PLoS Genet. 2015 Jan; 11(1):e1004834.
Score: 0.027
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Population stratification may bias analysis of PGC-1a as a modifier of age at Huntington disease motor onset. Hum Genet. 2012 Dec; 131(12):1833-40.
Score: 0.023
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Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. J Child Neurol. 2012 Sep; 27(9):1152-8.
Score: 0.022
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Antioxidant use in Friedreich ataxia. J Neurol Sci. 2008 Apr 15; 267(1-2):174-6.
Score: 0.016
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Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord. 2007 May 15; 22(7):1050-3.
Score: 0.016
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Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Neurology. 2004 Oct 26; 63(8):1509-12.
Score: 0.013
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Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. Ann Neurol. 2002 Oct; 52(4):435-41.
Score: 0.011
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The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum Mol Genet. 2002 Sep 01; 11(18):2175-87.
Score: 0.011