Literature DB >> 10700167

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?

G Stevanin, A Herman, A Dürr, C Jodice, M Frontali, Y Agid, A Brice.   

Abstract

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Year:  2000        PMID： 10700167     DOI： 10.1038/73408

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  13 in total

Review 1.  The spinocerebellar ataxias: order emerges from chaos.

Authors:  Russell L Margolis
Journal:  Curr Neurol Neurosci Rep       Date:  2002-09       Impact factor: 5.081

2.  SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications.

Authors:  Yih-Ru Wu; I-Cheng Chen; Bing-Wen Soong; Shih-Huan Kao; Ghin-Chueh Lee; Shu-Yi Huang; Hon-Chung Fung; Guey-Jen Lee-Chen; Chiung-Mei Chen
Journal:  Hum Genet       Date:  2009-02-20       Impact factor: 4.132

3.  SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.

Authors:  Yuishin Izumi; Hirofumi Maruyama; Masaya Oda; Hiroyuki Morino; Takayuki Okada; Hidefumi Ito; Iwao Sasaki; Hiroyasu Tanaka; Osamu Komure; Fukashi Udaka; Shigenobu Nakamura; Hideshi Kawakami
Journal:  Am J Hum Genet       Date:  2003-01-21       Impact factor: 11.025

Review 4.  Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.

Authors:  A Zeman; J Stone; M Porteous; E Burns; L Barron; J Warner
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-03       Impact factor: 10.154

5.  Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.

Authors:  Yoshio Ikeda; Joline C Dalton; Melinda L Moseley; Kathy L Gardner; Thomas D Bird; Tetsuo Ashizawa; William K Seltzer; Massimo Pandolfo; Aubrey Milunsky; Nicholas T Potter; Mikio Shoji; John B Vincent; John W Day; Laura P W Ranum
Journal:  Am J Hum Genet       Date:  2004-05-19       Impact factor: 11.025

6.  The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.

Authors:  Mark Wardle; Elisa Majounie; Mustapha B Muzaimi; Nigel M Williams; Huw R Morris; Neil P Robertson
Journal:  J Neurol       Date:  2009-03-06       Impact factor: 4.849

7.  Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.

Authors:  G Koutsis; G Karadima; A Pandraud; M G Sweeney; R Paudel; H Houlden; N W Wood; M Panas
Journal:  J Neurol       Date:  2012-09       Impact factor: 4.849

Review 8.  An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.

Authors:  Sanjog R Chintalaphani; Sandy S Pineda; Ira W Deveson; Kishore R Kumar
Journal:  Acta Neuropathol Commun       Date:  2021-05-25       Impact factor: 7.801

9.  SCA8 should not be tested in isolation for ataxia.

Authors:  Ricardo H Roda; Alice B Schindler; Craig Blackstone
Journal:  Neurol Genet       Date:  2017-04-21

10.  Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci.

Authors:  I-Cheng Chen; Hsuan-Yuan Lin; Ghin-Chueh Lee; Shih-Huan Kao; Chiung-Mei Chen; Yih-Ru Wu; Hsiu-Mei Hsieh-Li; Ming-Tsan Su; Guey-Jen Lee-Chen
Journal:  BMC Mol Biol       Date:  2009-02-10       Impact factor: 2.946
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