Literature DB >> 25572163

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

Christoph Kuhm1, Constanze Gallenmüller, Thilo Dörk, Moritz Menzel, Saskia Biskup, Thomas Klopstock.   

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Year:  2015        PMID： 25572163     DOI： 10.1007/s00415-015-7636-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  7 in total

1.  Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

Authors:  Shaun P Scott; Regina Bendix; Philip Chen; Raymond Clark; Thilo Dork; Martin F Lavin
Journal:  Proc Natl Acad Sci U S A       Date:  2002-01-22       Impact factor: 11.205

2.  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

Review 3.  Molecular pathology of ataxia telangiectasia.

Authors:  A M R Taylor; P J Byrd
Journal:  J Clin Pathol       Date:  2005-10       Impact factor: 3.411

4.  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

5.  Clinical spectrum of ataxia-telangiectasia in adulthood.

Authors:  M M M Verhagen; W F Abdo; M A A P Willemsen; F B L Hogervorst; D F C M Smeets; J A P Hiel; E R Brunt; M A van Rijn; D Majoor Krakauer; R A Oldenburg; A Broeks; J I Last; L J van't Veer; M A J Tijssen; A M I Dubois; H P H Kremer; C M R Weemaes; A M R Taylor; M van Deuren
Journal:  Neurology       Date:  2009-06-17       Impact factor: 9.910

6.  Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

Authors:  R A Gatti; I Berkel; E Boder; G Braedt; P Charmley; P Concannon; F Ersoy; T Foroud; N G Jaspers; K Lange
Journal:  Nature       Date:  1988-12-08       Impact factor: 49.962

7.  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
  7 in total
  7 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.  Recent advances in genetics of chorea.

Authors:  Niccolò E Mencacci; Miryam Carecchio
Journal:  Curr Opin Neurol       Date:  2016-08       Impact factor: 5.710

Review 3.  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

4.  Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.

Authors:  Michaela Pogoda; Franz-Joachim Hilke; Ebba Lohmann; Marc Sturm; Florian Lenz; Jakob Matthes; Francesc Muyas; Stephan Ossowski; Alexander Hoischen; Ulrike Faust; Ilnaz Sepahi; Nicolas Casadei; Sven Poths; Olaf Riess; Christopher Schroeder; Kathrin Grundmann
Journal:  Front Neurol       Date:  2019-12-18       Impact factor: 4.003

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

Review 6.  Movement Disorders in Genetic Pediatric Ataxias.

Authors:  Simone Gana; Enza Maria Valente
Journal:  Mov Disord Clin Pract       Date:  2020-04-06

7.  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
  7 in total

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