Literature DB >> 23640770

Isolated generalized dystonia in biallelic missense mutations of the ATM gene.

Wassilios G Meissner1, Marie Fernet, Jérôme Couturier, Janet Hall, Anthony Laugé, Patrick Henry, Dominique Stoppa-Lyonnet, François Tison.   

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Year:  2013        PMID： 23640770     DOI： 10.1002/mds.25487

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


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  9 in total

1.  Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

Authors:  Christoph Kuhm; Constanze Gallenmüller; Thilo Dörk; Moritz Menzel; Saskia Biskup; Thomas Klopstock
Journal:  J Neurol       Date:  2015-01-09       Impact factor: 4.849

2.  Clinical variability in ataxia-telangiectasia.

Authors:  Ebba Lohmann; Stefanie Krüger; Ann-Kathrin Hauser; Hasmet Hanagasi; Gamze Guven; Nihan Erginel-Unaltuna; Saskia Biskup; Thomas Gasser
Journal:  J Neurol       Date:  2015-05-10       Impact factor: 4.849

3.  Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.

Authors:  Ján Necpál; Michael Zech; Matej Škorvánek; Petra Havránková; Anna Fečíková; Juliane Winkelmann; Robert Jech
Journal:  Mov Disord Clin Pract       Date:  2017-12-03

Review 4.  More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.

Authors:  Toni S Pearson
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2016-07-16

Review 5.  Contemporary functional neuroanatomy and pathophysiology of dystonia.

Authors:  Norbert Brüggemann
Journal:  J Neural Transm (Vienna)       Date:  2021-01-24       Impact factor: 3.575

6.  Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Authors:  Tannaz Moeini Shad; Reza Yazdani; Parisa Amirifar; Samaneh Delavari; Marzieh Heidarzadeh Arani; Seyed Alireza Mahdaviani; Mahnaz Sadeghi-Shabestari; Asghar Aghamohammadi; Nima Rezaei; Hassan Abolhassani
Journal:  Front Immunol       Date:  2022-01-14       Impact factor: 7.561

7.  Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.

Authors:  Amit Rawat; Rahul Tyagi; Himanshi Chaudhary; Vignesh Pandiarajan; Ankur Kumar Jindal; Deepti Suri; Anju Gupta; Madhubala Sharma; Kanika Arora; Amanjit Bal; Priyanka Madaan; Lokesh Saini; Jitendra Kumar Sahu; Yumi Ogura; Tamaki Kato; Kohsuke Imai; Shigeaki Nonoyama; Surjit Singh
Journal:  Sci Rep       Date:  2022-03-08       Impact factor: 4.379

8.  A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

Authors:  Kotoka Nakamura; Francesca Fike; Sara Haghayegh; Rachel Saunders-Pullman; Angelika J Dawson; Thilo Dörk; Richard A Gatti
Journal:  Mol Genet Genomic Med       Date:  2014-03-13       Impact factor: 2.183

9.  Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.

Authors:  Majid Zaki-Dizaji; Mohammad Tajdini; Fatemeh Kiaee; Hossein Shojaaldini; Reza Shervin Badv; Hassan Abolhassani; Asghar Aghamohammadi
Journal:  Oman Med J       Date:  2020-02-17
  9 in total

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