TETSUO ASHIZAWA to Phenotype
This is a "connection" page, showing publications TETSUO ASHIZAWA has written about Phenotype.
Connection Strength
1.002
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Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families. Clin Neurol Neurosurg. 2019 Sep; 184:105427.
Score: 0.308
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Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. PLoS One. 2017; 12(4):e0175958.
Score: 0.066
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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: 0.059
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Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells. Stem Cells. 2015 Jun; 33(6):1829-38.
Score: 0.058
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Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H). Neurology. 2012 Sep 11; 79(11):1181-2.
Score: 0.048
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Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model. J Neurosci Res. 2012 Mar; 90(3):706-14.
Score: 0.045
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Recent progress in spinocerebellar ataxia type-10 (SCA10). Cerebellum. 2005; 4(1):37-42.
Score: 0.028
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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: 0.025
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Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. Arch Neurol. 2002 Aug; 59(8):1285-90.
Score: 0.024
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Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion. Epilepsia Open. 2021 03; 6(1):102-111.
Score: 0.021
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Genetic testing in spinocerebellar ataxias: defining a clinical role. Arch Neurol. 2001 Feb; 58(2):191-5.
Score: 0.021
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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: 0.021
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Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy. Ann Neurol. 2020 12; 88(6):1132-1143.
Score: 0.021
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Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10. PLoS One. 2020; 15(3):e0228789.
Score: 0.020
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Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Ann Neurol. 1999 Mar; 45(3):407-11.
Score: 0.019
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Getting a grip on the myotonic dystrophies. Neurology. 1999 Jan 01; 52(1):12-3.
Score: 0.019
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Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease. Neurobiol Aging. 2019 03; 75:225.e1-225.e8.
Score: 0.018
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Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection. Arq Neuropsiquiatr. 2015 Aug; 73(8):725-7.
Score: 0.015
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Bolivian kindred with combined spinocerebellar ataxia types 2 and 10. Acta Neurol Scand. 2015 Aug; 132(2):139-42.
Score: 0.014
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Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics. 2014 Mar; 15(1):59-64.
Score: 0.013
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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: 0.013
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Phenotypic expression of the myotonic dystrophy gene in monozygotic twins. Neurology. 1992 Sep; 42(9):1815-7.
Score: 0.012
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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: 0.011
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Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene. Muscle Nerve. 2011 Oct; 44(4):499-502.
Score: 0.011
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Spinocerebellar ataxia type 10 - A review. Parkinsonism Relat Disord. 2011 Nov; 17(9):655-61.
Score: 0.011
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Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients. Mov Disord. 2010 Dec 15; 25(16):2875-8.
Score: 0.011
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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: 0.009
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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: 0.009
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Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10. Arch Neurol. 2007 Apr; 64(4):591-4.
Score: 0.008
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Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology. 2006 May 23; 66(10):1602-4.
Score: 0.008
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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28; 63(12):2280-7.
Score: 0.007
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Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Neurology. 2004 Oct 26; 63(8):1509-12.
Score: 0.007
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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: 0.006
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Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25; 55(2):224-30.
Score: 0.005
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An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia. Neurology. 2000 Jan 25; 54(2):491-3.
Score: 0.005
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Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology. 1998 Oct; 51(4):1081-6.
Score: 0.005