Literature DB >> 30363857

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

Mohammed Faruq1,2, Sunil Shakya1, Ajay Garg3, Achal Kumar Srivastava1.   

Abstract

Entities:  

Keywords:  SCA12; SCA2; coexisting SCA mutations

Year:  2014        PMID： 30363857      PMCID： PMC6182980          DOI： 10.1002/mdc3.12073

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  10 in total

Review 1.  SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia.

Authors:  S E Holmes; E O Hearn; C A Ross; R L Margolis
Journal:  Brain Res Bull       Date:  2001 Oct-Nov 1       Impact factor: 4.077

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

Authors:  Anna Sulek; Dorota Hoffman-Zacharska; Elzbieta Zdzienicka; Jacek Zaremba
Journal:  Am J Hum Genet       Date:  2003-10       Impact factor: 11.025

Review 3.  Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.

Authors:  Alexandra Durr
Journal:  Lancet Neurol       Date:  2010-09       Impact factor: 44.182

4.  SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias.

Authors:  Mohammed Faruq; Vinod Scaria; Inder Singh; Shivani Tyagi; Achal K Srivastava; Mitali Mukerji
Journal:  Hum Mutat       Date:  2009-07       Impact factor: 4.878

5.  A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene.

Authors:  Qian Xu; Qinghua Li; Junling Wang; Hong Jiang; Lu Shen; Xiaohui Li; Beisha Tang
Journal:  Int J Neurosci       Date:  2010-02       Impact factor: 2.292

6.  Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12.

Authors:  A K Srivastava; S Choudhry; M S Gopinath; S Roy; M Tripathi; S K Brahmachari; S Jain
Journal:  Ann Neurol       Date:  2001-12       Impact factor: 10.422

7.  Association of spinocerebellar ataxia type 3 and spinocerebellar ataxia type 8 microsatellite expansions: genetic counseling implications.

Authors:  Sabrina Paganoni; Christina A Seelaus; Kelly E Ormond; Puneet Opal
Journal:  Mov Disord       Date:  2008-01       Impact factor: 10.338

8.  Two in one: report of a patient with spinocerebellar ataxia types 2 and 10.

Authors:  Sachin S Kapur; Jennifer G Goldman
Journal:  Arch Neurol       Date:  2012-09

Review 9.  A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis.

Authors:  N Wadia; J Pang; J Desai; A Mankodi; M Desai; S Chamberlain
Journal:  Brain       Date:  1998-12       Impact factor: 13.501

10.  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
  10 in total
  1 in total

1.  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
  1 in total

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