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

doi:10.1007/s00415-015-7636-4

Case Reports

. 2015 Mar;262(3):768-70.

doi: 10.1007/s00415-015-7636-4. Epub 2015 Jan 9.

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

Affiliations

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

Case Reports

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

Christoph Kuhm et al. J Neurol. 2015 Mar.

. 2015 Mar;262(3):768-70.

doi: 10.1007/s00415-015-7636-4. Epub 2015 Jan 9.

Authors

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

Affiliation

¹ Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany.

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

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Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.
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Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
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Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.
Giri S, Ghosh A, Roy S, Sankhla CS, Das SK, Ray K, Ray J. Giri S, et al. J Mol Neurosci. 2021 Feb;71(2):325-337. doi: 10.1007/s12031-020-01653-1. Epub 2020 Jul 13. J Mol Neurosci. 2021. PMID: 32662044
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References

1. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):925-30 - PubMed
1. Mov Disord. 2013 Nov;28(13):1897-9 - PubMed
1. Neurology. 2012 Feb 28;78(9):649-57 - PubMed
1. Neurology. 2009 Aug 11;73(6):430-7 - PubMed
1. J Clin Pathol. 2005 Oct;58(10):1009-15 - PubMed

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[1] Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):925-30 - PubMed

[2] Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):925-30 - PubMed

[3] Mov Disord. 2013 Nov;28(13):1897-9 - PubMed

[4] Mov Disord. 2013 Nov;28(13):1897-9 - PubMed

[5] Neurology. 2012 Feb 28;78(9):649-57 - PubMed

[6] Neurology. 2012 Feb 28;78(9):649-57 - PubMed

[7] Neurology. 2009 Aug 11;73(6):430-7 - PubMed

[8] Neurology. 2009 Aug 11;73(6):430-7 - PubMed

[9] J Clin Pathol. 2005 Oct;58(10):1009-15 - PubMed

[10] J Clin Pathol. 2005 Oct;58(10):1009-15 - PubMed

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

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

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