Literature DB >> 25847575

Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.

Ling-Yan Ma1, Lin Wang, Ying-Mai Yang, Tao Feng, Xin-Hua Wan.   

Abstract

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Year:  2015        PMID： 25847575     DOI： 10.1002/mds.26190

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  5 in total

Review 1.  Isolated dystonia: clinical and genetic updates.

Authors:  Aloysius Domingo; Rachita Yadav; Laurie J Ozelius
Journal:  J Neural Transm (Vienna)       Date:  2020-11-27       Impact factor: 3.575

2.  A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

Authors:  Patrick R Blackburn; Michael T Zimmermann; Jennifer M Gass; Kimberly G Harris; Margot A Cousin; Nicole J Boczek; Owen A Ross; Eric W Klee; Paul W Brazis; Jay A Van Gerpen; Paldeep S Atwal
Journal:  BMC Med Genet       Date:  2016-12-05       Impact factor: 2.103

Review 3.  Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?

Authors:  Dineke S Verbeek; Thomas Gasser
Journal:  Front Neurol       Date:  2017-01-16       Impact factor: 4.003

4.  Clinical and genetic features of cervical dystonia in a large multicenter cohort.

Authors:  Mark S LeDoux; Satya R Vemula; Jianfeng Xiao; Misty M Thompson; Joel S Perlmutter; Laura J Wright; H A Jinnah; Ami R Rosen; Peter Hedera; Cynthia L Comella; Anne Weissbach; Johanna Junker; Joseph Jankovic; Richard L Barbano; Stephen G Reich; Ramon L Rodriguez; Brian D Berman; Sylvain Chouinard; Lawrence Severt; Pinky Agarwal; Natividad P Stover
Journal:  Neurol Genet       Date:  2016-04-11

5.  Youngest presenting patient with dystonia 24 and review of the literature.

Authors:  Sarah Nelin; Richard Hussey; Brian M Faux; Luis Rohena
Journal:  Clin Case Rep       Date:  2018-09-15
  5 in total

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