Literature DB >> 14508711

SCA8 repeat expansion coexists with SCA1--not only with SCA6.

Anna Sulek, Dorota Hoffman-Zacharska, Elzbieta Zdzienicka, Jacek Zaremba.   

Abstract

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Year:  2003        PMID： 14508711      PMCID： PMC1180618          DOI： 10.1086/378524

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  3 in total

1.  Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

Authors:  M Y Chung; L P Ranum; L A Duvick; A Servadio; H Y Zoghbi; H T Orr
Journal:  Nat Genet       Date:  1993-11       Impact factor: 38.330

2.  Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

Authors:  H T Orr; M Y Chung; S Banfi; T J Kwiatkowski; A Servadio; A L Beaudet; A E McCall; L A Duvick; L P Ranum; H Y Zoghbi
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

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
  3 in total
  10 in total

1.  Spinocerebellar Ataxia 2 and 12 Mutations in an Indian Family with Cerebellar Ataxia and Slow Saccades.

Authors:  Mohammed Faruq; Sunil Shakya; Ajay Garg; Achal Kumar Srivastava
Journal:  Mov Disord Clin Pract       Date:  2014-07-31

2.  Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.

Authors:  J F Baizabal-Carvallo; G Xia; P Botros; J Laguna; T Ashizawa; J Jankovic
Journal:  Acta Neurol Scand       Date:  2015-01-28       Impact factor: 3.209

3.  A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8.

Authors:  Jennifer M Gass; Jake McKay; Kimberly J Guthrie; Nicole Boczek; Paldeep S Atwal; Jay Van Gerpen
Journal:  Mov Disord Clin Pract       Date:  2016-07-23

4.  A Novel Co-existence of Spinocerebellar Ataxia 1 and Spinocerebellar Ataxia 2 Mutations in Indian Patients.

Authors:  Pooja Sharma; Akhilesh K Sonakar; Vinay Goel; Ajay Garg; Achal K Srivastava; Mohammed Faruq
Journal:  Mov Disord Clin Pract       Date:  2022-05-10

Review 5.  RNA-mediated toxicity in neurodegenerative disease.

Authors:  Veronique V Belzil; Tania F Gendron; Leonard Petrucelli
Journal:  Mol Cell Neurosci       Date:  2012-12-29       Impact factor: 4.314

6.  Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.

Authors:  Yoshio Ikeda; Randy S Daughters; Laura P W Ranum
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

7.  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

8.  The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.

Authors:  Jun Sawada; Takayuki Katayama; Takashi Tokashiki; Shiori Kikuchi; Kohei Kano; Kae Takahashi; Tsukasa Saito; Yoshiki Adachi; Yuji Okamoto; Akiko Yoshimura; Hiroshi Takashima; Naoyuki Hasebe
Journal:  Intern Med       Date:  2019-09-26       Impact factor: 1.271

9.  Genetic and molecular aspects of spinocerebellar ataxias.

Authors:  Viktor Honti; László Vécsei
Journal:  Neuropsychiatr Dis Treat       Date:  2005-06       Impact factor: 2.570

10.  Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease.

Authors:  Ji Sun Kim; Tae Ok Son; Jinyoung Youn; Chang-Seok Ki; Jin Whan Cho
Journal:  J Clin Neurol       Date:  2013-10-31       Impact factor: 3.077
  10 in total

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