TETSUO ASHIZAWA to Mutation
This is a "connection" page, showing publications TETSUO ASHIZAWA has written about Mutation.
Connection Strength
1.150
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Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. PLoS One. 2017; 12(4):e0175958.
Score: 0.199
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SPG7 and Impaired Emotional Communication. Cerebellum. 2017 04; 16(2):595-598.
Score: 0.198
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Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome. Arch Neurol. 2003 Apr; 60(4):502-3.
Score: 0.075
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A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. Neurology. 2000 Dec 12; 55(11):1697-703.
Score: 0.064
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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.
Score: 0.047
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SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure. PLoS One. 2015; 10(8):e0135906.
Score: 0.044
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De novo myotonic dystrophy mutation in a Nigerian kindred. Am J Hum Genet. 1995 May; 56(5):1067-74.
Score: 0.043
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Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13. Cerebellum. 2013 Dec; 12(6):932-6.
Score: 0.039
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Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms. PLoS One. 2013; 8(10):e76749.
Score: 0.039
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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12.
Score: 0.034
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Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. Rev Biol Trop. 2008 Mar; 56(1):1-11.
Score: 0.026
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The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene. Arq Neuropsiquiatr. 2007 Dec; 65(4A):965-8.
Score: 0.026
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Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family. Neurology. 2007 Jul 10; 69(2):216-8.
Score: 0.025
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Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Neurology. 2004 Oct 26; 63(8):1509-12.
Score: 0.021
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Echo of silence: silent mutations, RNA splicing, and neuromuscular diseases. Neurology. 2003 Nov 25; 61(10):1330-1.
Score: 0.020
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SCA10 and ATTCT repeat expansion: clinical features and molecular aspects. Cytogenet Genome Res. 2003; 100(1-4):184-8.
Score: 0.018
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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: 0.017
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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: 0.016
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Primary coenzyme Q10 deficiency due to COQ8A gene mutations. Mol Genet Genomic Med. 2020 10; 8(10):e1420.
Score: 0.016
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Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis. Proc Natl Acad Sci U S A. 2020 04 07; 117(14):8154-8165.
Score: 0.015
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Getting a grip on the myotonic dystrophies. Neurology. 1999 Jan 01; 52(1):12-3.
Score: 0.014
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RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. Neuron. 2017 Sep 13; 95(6):1292-1305.e5.
Score: 0.013
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Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet. 1997 May; 60(5):1251-6.
Score: 0.012
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Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease. Am J Med Genet. 1996 Dec 18; 66(3):281-6.
Score: 0.012
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Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? J Neurol. 1996 Oct; 243(10):715-21.
Score: 0.012
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Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci. 2015 Aug 15; 355(1-2):3-6.
Score: 0.011
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Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients. PLoS One. 2015; 10(2):e0117488.
Score: 0.011
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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: 0.011
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Bolivian kindred with combined spinocerebellar ataxia types 2 and 10. Acta Neurol Scand. 2015 Aug; 132(2):139-42.
Score: 0.011
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Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. PLoS One. 2013; 8(11):e81342.
Score: 0.010
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Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet. 2012 Mar 09; 90(3):434-44.
Score: 0.009
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Gene symbol: CLCN1. Disease: Myotonia congenita. Hum Genet. 2008 Feb; 123(1):104-5.
Score: 0.007
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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: 0.006
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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.
Score: 0.005
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Huntington's disease--like 2 can present as chorea-acanthocytosis. Neurology. 2003 Oct 14; 61(7):1002-4.
Score: 0.005
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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: 0.005
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Immunohistochemical and molecular analysis of giant cell carcinoma of the pancreas: a report of three cases. Pancreas. 1999 Apr; 18(3):308-15.
Score: 0.004
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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.
Score: 0.003
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Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics. 1995 Jul 01; 28(1):1-14.
Score: 0.003
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An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992 Mar 06; 255(5049):1256-8.
Score: 0.002