Literature DB >> 29943235

Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China.

Minjin Wang1, Shuo Guo1, Wencong Yao1, Jun Wang1, Jianxia Tao1, Yanbing Zhou1, Binwu Ying2.   

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Year:  2018        PMID： 29943235      PMCID： PMC6129249          DOI： 10.1007/s12264-018-0247-1

Source DB:  PubMed          Journal:  Neurosci Bull        ISSN： 1995-8218            Impact factor:   5.203


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  10 in total

Review 1.  Cerebellar/spinocerebellar syndromes.

Authors:  C Mariotti; S Di Donato
Journal:  Neurol Sci       Date:  2001-11       Impact factor: 3.307

2.  Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.

Authors:  Zuzana Musova; Zdenek Sedlacek; Radim Mazanec; Jiri Klempir; Jan Roth; Pavlina Plevova; Martin Vyhnalek; Marta Kopeckova; Ludmila Apltova; Anna Krepelova; Alena Zumrova
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

3.  Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

Authors:  Melinda L Moseley; Tao Zu; Yoshio Ikeda; Wangcai Gao; Anne K Mosemiller; Randy S Daughters; Gang Chen; Marcy R Weatherspoon; H Brent Clark; Timothy J Ebner; John W Day; Laura P W Ranum
Journal:  Nat Genet       Date:  2006-06-25       Impact factor: 38.330

4.  An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Authors:  M D Koob; M L Moseley; L J Schut; K A Benzow; T D Bird; J W Day; L P Ranum
Journal:  Nat Genet       Date:  1999-04       Impact factor: 38.330

5.  SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance.

Authors:  M L Moseley; L J Schut; T D Bird; M D Koob; J W Day; L P Ranum
Journal:  Hum Mol Genet       Date:  2000-09-01       Impact factor: 6.150

6.  Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.

Authors:  V Juvonen; M Hietala; M Päivärinta; M Rantamäki; L Hakamies; S Kaakkola; O Vierimaa; M Penttinen; M L Savontaus
Journal:  Ann Neurol       Date:  2000-09       Impact factor: 10.422

7.  High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles.

Authors:  I Silveira; I Alonso; L Guimarães; P Mendonça; C Santos; P Maciel; J M Fidalgo De Matos; M Costa; C Barbot; A Tuna; J Barros; L Jardim; P Coutinho; J Sequeiros
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

8.  Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family.

Authors:  V P Cintra; C M Lourenço; M M V Rocha; P J Tomaselli; W Marques
Journal:  Acta Neurol Scand       Date:  2017-02-22       Impact factor: 3.209

9.  CTA/CTG expansions at the SCA 8 locus in multiple system atrophy.

Authors:  Renato P Munhoz; Hélio A Teive; Salmo Raskin; Lineu C Werneck
Journal:  Clin Neurol Neurosurg       Date:  2008-11-05       Impact factor: 1.876

10.  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
  10 in total
  1 in total

1.  Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.

Authors:  Yao Zhou; Yanchun Yuan; Zhen Liu; Sheng Zeng; Zhao Chen; Lu Shen; Hong Jiang; Kun Xia; Beisha Tang; Junling Wang
Journal:  J Neurol       Date:  2019-08-30       Impact factor: 4.849
  1 in total

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