Literature DB >> 30363071

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

Ján Necpál1, Michael Zech2,3, Matej Škorvánek4, Petra Havránková5, Anna Fečíková5, Juliane Winkelmann2,3,6,7, Robert Jech5.   

Abstract

https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312564-sup-v001_1.htm.

Entities:  

Keywords:  ataxia telangiectasia; case report; compound heterozygote; isolated segmental dystonia

Year:  2017        PMID： 30363071      PMCID： PMC6090590          DOI： 10.1002/mdc3.12564

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


  10 in total

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

Authors:  Wassilios G Meissner; Marie Fernet; Jérôme Couturier; Janet Hall; Anthony Laugé; Patrick Henry; Dominique Stoppa-Lyonnet; François Tison
Journal:  Mov Disord       Date:  2013-05-02       Impact factor: 10.338

2.  Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Authors:  Mijke M M Verhagen; James I Last; Frans B L Hogervorst; Dominique F C M Smeets; Nel Roeleveld; Frans Verheijen; Coriene E Catsman-Berrevoets; Nico M Wulffraat; Jan M Cobben; Johan Hiel; Ewout R Brunt; Els A J Peeters; Encarna B Gómez Garcia; Marjo S van der Knaap; Carsten R Lincke; Laura A E M Laan; Marina A J Tijssen; Monique A van Rijn; Danielle Majoor-Krakauer; Marjan Visser; Laura J van 't Veer; Wim J Kleijer; Bart P C van de Warrenburg; Adilia Warris; Imelda J M de Groot; Ronald de Groot; Annegien Broeks; Frank Preijers; Berry H P H Kremer; Corry M R Weemaes; Malcolm A M R Taylor; Marcel van Deuren; Michèl A A P Willemsen
Journal:  Hum Mutat       Date:  2012-01-25       Impact factor: 4.878

3.  Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

Authors:  R Saunders-Pullman; D Raymond; A J Stoessl; D Hobson; K Nakamura; T Nakamura; S Pullman; D Lefton; M S Okun; R Uitti; R Sachdev; K Stanley; M San Luciano; J Hagenah; R Gatti; L J Ozelius; S B Bressman
Journal:  Neurology       Date:  2012-02-15       Impact factor: 9.910

Review 4.  Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.

Authors:  Hélio A G Teive; Adriana Moro; Mariana Moscovich; Walter O Arruda; Renato P Munhoz; Salmo Raskin; Tetsuo Ashizawa
Journal:  J Neurol Sci       Date:  2015-05-29       Impact factor: 3.181

5.  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

6.  Ataxia-telangiectasia: without ataxia or telangiectasia?

Authors:  Rachel J Saunders-Pullman; Richard Gatti
Journal:  Neurology       Date:  2009-07-15       Impact factor: 9.910

7.  Ataxia without telangiectasia.

Authors:  J H Friedman; A Weitberg
Journal:  Mov Disord       Date:  1993-04       Impact factor: 10.338

8.  A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

Authors:  K Savitsky; A Bar-Shira; S Gilad; G Rotman; Y Ziv; L Vanagaite; D A Tagle; S Smith; T Uziel; S Sfez; M Ashkenazi; I Pecker; M Frydman; R Harnik; S R Patanjali; A Simmons; G A Clines; A Sartiel; R A Gatti; L Chessa; O Sanal; M F Lavin; N G Jaspers; A M Taylor; C F Arlett; T Miki; S M Weissman; M Lovett; F S Collins; Y Shiloh
Journal:  Science       Date:  1995-06-23       Impact factor: 47.728

Review 9.  Ataxia telangiectasia: a review.

Authors:  Cynthia Rothblum-Oviatt; Jennifer Wright; Maureen A Lefton-Greif; Sharon A McGrath-Morrow; Thomas O Crawford; Howard M Lederman
Journal:  Orphanet J Rare Dis       Date:  2016-11-25       Impact factor: 4.123

10.  Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

Authors:  Gavin Charlesworth; Mahavir D Mohire; Susanne A Schneider; Maria Stamelou; Nicholas W Wood; Kailash P Bhatia
Journal:  Neurology       Date:  2013-08-14       Impact factor: 9.910
  10 in total
  6 in total

1.  Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.

Authors:  Subhajit Giri; Arunibha Ghosh; Shubhrajit Roy; Charulata Savant Sankhla; Shyamal Kumar Das; Kunal Ray; Jharna Ray
Journal:  J Mol Neurosci       Date:  2020-07-13       Impact factor: 3.444

Review 2.  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

Review 3.  Orange is the new black: Kinases are the new master regulators of tumor suppression.

Authors:  Elvira An; John Brognard
Journal:  IUBMB Life       Date:  2018-12-11       Impact factor: 3.885

Review 4.  Contemporary functional neuroanatomy and pathophysiology of dystonia.

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

5.  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

6.  The natural history of ataxia-telangiectasia (A-T): A systematic review.

Authors:  Emily Petley; Alexander Yule; Shaun Alexander; Shalini Ojha; William P Whitehouse
Journal:  PLoS One       Date:  2022-03-15       Impact factor: 3.752
  6 in total

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