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TETSUO ASHIZAWA to Alleles

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This is a "connection" page, showing publications TETSUO ASHIZAWA has written about Alleles.
TETSUO ASHIZAWA
Connection Strength
0.862
Alleles
  1. Extended haplotype with rs41524547-G defines the ancestral origin of SCA10. Hum Mol Genet. 2024 09 03; 33(18):1567-1574.
    View in: PubMed
    Score: 0.165
  2. Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. PLoS One. 2017; 12(4):e0175958.
    View in: PubMed
    Score: 0.099
  3. SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure. PLoS One. 2015; 10(8):e0135906.
    View in: PubMed
    Score: 0.088
  4. Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology. 2006 May 23; 66(10):1602-4.
    View in: PubMed
    Score: 0.046
  5. Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann Neurol. 2004 Dec; 56(6):898-901.
    View in: PubMed
    Score: 0.042
  6. Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology. 2002 Mar 26; 58(6):983-4.
    View in: PubMed
    Score: 0.035
  7. Alcohol dehydrogenase polymorphism and Parkinson's disease. Neurosci Lett. 2001 Jun 01; 305(1):70-2.
    View in: PubMed
    Score: 0.033
  8. Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor? Neurology. 2000 Mar 14; 54(5):1195-8.
    View in: PubMed
    Score: 0.030
  9. 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.
    View in: PubMed
    Score: 0.030
  10. Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease. Neurobiol Aging. 2019 03; 75:225.e1-225.e8.
    View in: PubMed
    Score: 0.028
  11. Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy. Genomics. 1996 Aug 15; 36(1):47-53.
    View in: PubMed
    Score: 0.024
  12. Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients. PLoS One. 2015; 10(2):e0117488.
    View in: PubMed
    Score: 0.021
  13. Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics. 2014 Mar; 15(1):59-64.
    View in: PubMed
    Score: 0.020
  14. Somatic instability of CTG repeat in myotonic dystrophy. Neurology. 1993 Dec; 43(12):2674-8.
    View in: PubMed
    Score: 0.020
  15. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochem Biophys Res Commun. 2012 Aug 03; 424(3):404-8.
    View in: PubMed
    Score: 0.018
  16. 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.
    View in: PubMed
    Score: 0.018
  17. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet. 2012 Mar 09; 90(3):434-44.
    View in: PubMed
    Score: 0.017
  18. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Mar 06; 78(10):690-5.
    View in: PubMed
    Score: 0.017
  19. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12.
    View in: PubMed
    Score: 0.017
  20. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol. 2007 Jun; 61(6):607-10.
    View in: PubMed
    Score: 0.012
  21. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA. 2006 Aug 09; 296(6):661-70.
    View in: PubMed
    Score: 0.012
  22. A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. Arch Neurol. 2005 Jan; 62(1):74-8.
    View in: PubMed
    Score: 0.011
  23. Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients. Nucleic Acids Res. 2004; 32(21):6334-46.
    View in: PubMed
    Score: 0.010
  24. Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects. Neurology. 2004 Jan 27; 62(2):269-74.
    View in: PubMed
    Score: 0.010
  25. Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. Ann Neurol. 2002 Oct; 52(4):435-41.
    View in: PubMed
    Score: 0.009
  26. An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia. Neurology. 2000 Jan 25; 54(2):491-3.
    View in: PubMed
    Score: 0.007
  27. Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13. Epilepsia. 2000 Jan; 41(1):24-7.
    View in: PubMed
    Score: 0.007
  28. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology. 1998 Oct; 51(4):1081-6.
    View in: PubMed
    Score: 0.007
  29. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan; 15(1):62-9.
    View in: PubMed
    Score: 0.006
  30. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics. 1995 Jul 01; 28(1):1-14.
    View in: PubMed
    Score: 0.005
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.