Literature DB >> 35146067

Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite.

Jacky Ganguly1, Mellany Tuesta Bernaola1, Sharan Goobie2, Asuri Prasad3, Mandar Jog1,2,3.   

Abstract

Entities:  

Keywords:  Canadian Mennonite; ataxia‐telangiectasia; myoclonus‐dystonia

Year:  2021        PMID： 35146067      PMCID： PMC8810443          DOI： 10.1002/mdc3.13369

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


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  14 in total

1.  Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia.

Authors:  Gemma Cummins; Tania Jawad; Malcolm Taylor; Timothy Lynch
Journal:  Parkinsonism Relat Disord       Date:  2013-09-06       Impact factor: 4.891

Review 2.  Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment.

Authors:  Emmanuel Roze; Anthony E Lang; Marie Vidailhet
Journal:  Curr Opin Neurol       Date:  2018-08       Impact factor: 5.710

3.  Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia.

Authors:  Tojo Nakayama; Yuko Sato; Mitsugu Uematsu; Masatoshi Takagi; Setsuko Hasegawa; Satoko Kumada; Atsuo Kikuchi; Naomi Hino-Fukuyo; Yoji Sasahara; Kazuhiro Haginoya; Shigeo Kure
Journal:  Brain Dev       Date:  2014-06-18       Impact factor: 1.961

4.  The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.

Authors:  Aurélie Méneret; Yara Ahmar-Beaugendre; Guillaume Rieunier; Nizar Mahlaoui; Bertrand Gaymard; Emmanuelle Apartis; Christine Tranchant; Sophie Rivaud-Péchoux; Bertrand Degos; Baya Benyahia; Felipe Suarez; Thierry Maisonobe; Michel Koenig; Alexandra Durr; Marc-Henri Stern; Catherine Dubois d'Enghien; Alain Fischer; Marie Vidailhet; Dominique Stoppa-Lyonnet; David Grabli; Mathieu Anheim
Journal:  Neurology       Date:  2014-08-13       Impact factor: 9.910

Review 5.  Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction.

Authors:  Elisa Menozzi; Bettina Balint; Anna Latorre; Enza Maria Valente; John C Rothwell; Kailash P Bhatia
Journal:  Mov Disord       Date:  2019-08-26       Impact factor: 10.338

6.  ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

Authors:  M Mitui; E Bernatowska; B Pietrucha; J Piotrowska-Jastrzebska; L Eng; S Nahas; S Teraoka; G Sholty; A Purayidom; P Concannon; R A Gatti
Journal:  Ann Hum Genet       Date:  2005-11       Impact factor: 1.670

7.  Dystonia as presenting manifestation of ataxia telangiectasia : a case report.

Authors:  V Goyal; M Behari
Journal:  Neurol India       Date:  2002-06       Impact factor: 2.117

Review 8.  Ataxia-telangiectasia: A review of clinical features and molecular pathology.

Authors:  Parisa Amirifar; Mohammad Reza Ranjouri; Reza Yazdani; Hassan Abolhassani; Asghar Aghamohammadi
Journal:  Pediatr Allergy Immunol       Date:  2019-03-20       Impact factor: 6.377

9.  Myoclonus in ataxia-telangiectasia.

Authors:  Pichet Termsarasab; Amy C Yang; Steven J Frucht
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2015-03-13
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  1 in total

Review 1.  Skin Conditions and Movement Disorders: Hiding in Plain Sight.

Authors:  Kristina Kulcsarova; Janette Baloghova; Jan Necpal; Matej Skorvanek
Journal:  Mov Disord Clin Pract       Date:  2022-03-24
  1 in total

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