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| Home > Publications Database > Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. > print |
| 001 | 137840 | ||
| 005 | 20240321220326.0 | ||
| 024 | 7 | _ | |a 10.1007/s00415-015-7636-4 |2 doi |
| 024 | 7 | _ | |a pmid:25572163 |2 pmid |
| 024 | 7 | _ | |a 0012-1037 |2 ISSN |
| 024 | 7 | _ | |a 0340-5354 |2 ISSN |
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| 037 | _ | _ | |a DZNE-2020-04162 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Kuhm, Christoph |0 P:(DE-HGF)0 |b 0 |
| 245 | _ | _ | |a Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. |
| 260 | _ | _ | |a Berlin |c 2015 |b Springer73057 |
| 264 | _ | 1 | |3 online |2 Crossref |b Springer Science and Business Media LLC |c 2015-01-09 |
| 264 | _ | 1 | |3 print |2 Crossref |b Springer Science and Business Media LLC |c 2015-03-01 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1590750555_15073 |2 PUB:(DE-HGF) |x Letter |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
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| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 536 | _ | _ | |a 344 - Clinical and Health Care Research (POF3-344) |0 G:(DE-HGF)POF3-344 |c POF3-344 |f POF III |x 0 |
| 542 | _ | _ | |i 2015-01-09 |2 Crossref |u http://www.springer.com/tdm |
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| 650 | _ | 7 | |a Ataxia Telangiectasia Mutated Proteins |0 EC 2.7.11.1 |2 NLM Chemicals |
| 650 | _ | 2 | |a Ataxia Telangiectasia: genetics |2 MeSH |
| 650 | _ | 2 | |a Ataxia Telangiectasia Mutated Proteins: genetics |2 MeSH |
| 650 | _ | 2 | |a Dystonic Disorders: complications |2 MeSH |
| 650 | _ | 2 | |a Dystonic Disorders: genetics |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Germany |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Mutation: genetics |2 MeSH |
| 700 | 1 | _ | |a Gallenmüller, Constanze |0 P:(DE-2719)9000092 |b 1 |u dzne |
| 700 | 1 | _ | |a Dörk, Thilo |b 2 |
| 700 | 1 | _ | |a Menzel, Moritz |b 3 |
| 700 | 1 | _ | |a Biskup, Saskia |0 P:(DE-HGF)0 |b 4 |
| 700 | 1 | _ | |a Klopstock, Thomas |0 P:(DE-2719)2810704 |b 5 |e Last author |u dzne |
| 773 | 1 | 8 | |a 10.1007/s00415-015-7636-4 |b Springer Science and Business Media LLC |d 2015-01-09 |n 3 |p 768-770 |3 journal-article |2 Crossref |t Journal of Neurology |v 262 |y 2015 |x 0340-5354 |
| 773 | _ | _ | |a 10.1007/s00415-015-7636-4 |g Vol. 262, no. 3, p. 768 - 770 |0 PERI:(DE-600)1421299-7 |n 3 |q 262:3<768 - 770 |p 768-770 |t Journal of neurology |v 262 |y 2015 |x 0340-5354 |
| 909 | C | O | |o oai:pub.dzne.de:137840 |p VDB |
| 910 | 1 | _ | |a Deutsches Zentrum für Neurodegenerative Erkrankungen |0 I:(DE-588)1065079516 |k DZNE |b 1 |6 P:(DE-2719)9000092 |
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| 999 | C | 5 | |a 10.1038/336577a0 |9 -- missing cx lookup -- |1 RA Gatti |p 577 - |2 Crossref |u Gatti RA, Berkel I, Boder E et al (1988) Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336:577–580 |t Nature |v 336 |y 1988 |
| 999 | C | 5 | |a 10.1136/jcp.2005.026062 |9 -- missing cx lookup -- |1 AM Taylor |p 1009 - |2 Crossref |u Taylor AM, Byrd PJ (2005) Molecular pathology of ataxia telangiectasia. J Clin Pathol 58:1009–1015 |t J Clin Pathol |v 58 |y 2005 |
| 999 | C | 5 | |a 10.1212/WNL.0b013e3181af33bd |9 -- missing cx lookup -- |1 MM Verhagen |p 430 - |2 Crossref |u Verhagen MM, Abdo WF, Willemsen MA et al (2009) Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 73:430–443 |t Neurology |v 73 |y 2009 |
| 999 | C | 5 | |a 10.1212/WNL.0b013e3182494d51 |9 -- missing cx lookup -- |1 R Saunders-Pullman |p 649 - |2 Crossref |u Saunders-Pullman R, Raymond D, Stoessl AJ et al (2012) Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 78:649–657 |t Neurology |v 78 |y 2012 |
| 999 | C | 5 | |a 10.1212/WNL.0b013e3182a55fa2 |9 -- missing cx lookup -- |1 G Charlesworth |p 1148 - |2 Crossref |u Charlesworth G, Mohire MD, Schneider SA, Stamelou M, Wood NW, Bhatia KP (2013) Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology 81:1148–1151 |t Neurology |v 81 |y 2013 |
| 999 | C | 5 | |a 10.1002/mds.25487 |9 -- missing cx lookup -- |1 WG Meissner |p 1897 - |2 Crossref |u Meissner WG, Fernet M, Couturier J et al (2013) Isolated generalized dystonia in biallelic missense mutations of the ATM gene. Mov Disord 28:1897–1899 |t Mov Disord |v 28 |y 2013 |
| 999 | C | 5 | |a 10.1073/pnas.012329699 |9 -- missing cx lookup -- |1 SP Scott |p 925 - |2 Crossref |u Scott SP, Bendix R, Chen P, Clark R, Dork T, Lavin MF (2002) Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc Natl Acad Sci USA 99:925–930 |t Proc Natl Acad Sci USA |v 99 |y 2002 |
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