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@ARTICLE{Kuhm:137840,
author = {Kuhm, Christoph and Gallenmüller, Constanze and Dörk,
Thilo and Menzel, Moritz and Biskup, Saskia and Klopstock,
Thomas},
title = {{N}ovel {ATM} mutation in a {G}erman patient presenting as
generalized dystonia without classical signs of
ataxia-telangiectasia.},
journal = {Journal of neurology},
volume = {262},
number = {3},
issn = {0340-5354},
address = {Berlin},
publisher = {Springer73057},
reportid = {DZNE-2020-04162},
pages = {768-770},
year = {2015},
subtyp = {Letter},
keywords = {Ataxia Telangiectasia: genetics / Ataxia Telangiectasia
Mutated Proteins: genetics / Dystonic Disorders:
complications / Dystonic Disorders: genetics / Female /
Germany / Humans / Middle Aged / Mutation: genetics / Ataxia
Telangiectasia Mutated Proteins (NLM Chemicals)},
cin = {Ext LMU Klinik / Clinical Dementia Research München},
ddc = {610},
cid = {I:(DE-2719)5000049 / I:(DE-2719)1111016},
pnm = {344 - Clinical and Health Care Research (POF3-344)},
pid = {G:(DE-HGF)POF3-344},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:25572163},
doi = {10.1007/s00415-015-7636-4},
url = {https://pub.dzne.de/record/137840},
}