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000137840 041__ $$aEnglish
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000137840 1001_ $$0P:(DE-HGF)0$$aKuhm, Christoph$$b0
000137840 245__ $$aNovel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
000137840 260__ $$aBerlin$$bSpringer73057$$c2015
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000137840 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aAtaxia Telangiectasia Mutated Proteins
000137840 650_2 $$2MeSH$$aAtaxia Telangiectasia: genetics
000137840 650_2 $$2MeSH$$aAtaxia Telangiectasia Mutated Proteins: genetics
000137840 650_2 $$2MeSH$$aDystonic Disorders: complications
000137840 650_2 $$2MeSH$$aDystonic Disorders: genetics
000137840 650_2 $$2MeSH$$aFemale
000137840 650_2 $$2MeSH$$aGermany
000137840 650_2 $$2MeSH$$aHumans
000137840 650_2 $$2MeSH$$aMiddle Aged
000137840 650_2 $$2MeSH$$aMutation: genetics
000137840 7001_ $$0P:(DE-2719)9000092$$aGallenmüller, Constanze$$b1$$udzne
000137840 7001_ $$aDörk, Thilo$$b2
000137840 7001_ $$aMenzel, Moritz$$b3
000137840 7001_ $$0P:(DE-HGF)0$$aBiskup, Saskia$$b4
000137840 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b5$$eLast author$$udzne
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000137840 999C5 $$1RA Gatti$$2Crossref$$9-- missing cx lookup --$$a10.1038/336577a0$$p577 -$$tNature$$uGatti RA, Berkel I, Boder E et al (1988) Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336:577–580$$v336$$y1988
000137840 999C5 $$1AM Taylor$$2Crossref$$9-- missing cx lookup --$$a10.1136/jcp.2005.026062$$p1009 -$$tJ Clin Pathol$$uTaylor AM, Byrd PJ (2005) Molecular pathology of ataxia telangiectasia. J Clin Pathol 58:1009–1015$$v58$$y2005
000137840 999C5 $$1MM Verhagen$$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0b013e3181af33bd$$p430 -$$tNeurology$$uVerhagen MM, Abdo WF, Willemsen MA et al (2009) Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 73:430–443$$v73$$y2009
000137840 999C5 $$1R Saunders-Pullman$$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0b013e3182494d51$$p649 -$$tNeurology$$uSaunders-Pullman R, Raymond D, Stoessl AJ et al (2012) Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 78:649–657$$v78$$y2012
000137840 999C5 $$1G Charlesworth$$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0b013e3182a55fa2$$p1148 -$$tNeurology$$uCharlesworth G, Mohire MD, Schneider SA, Stamelou M, Wood NW, Bhatia KP (2013) Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology 81:1148–1151$$v81$$y2013
000137840 999C5 $$1WG Meissner$$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.25487$$p1897 -$$tMov Disord$$uMeissner WG, Fernet M, Couturier J et al (2013) Isolated generalized dystonia in biallelic missense mutations of the ATM gene. Mov Disord 28:1897–1899$$v28$$y2013
000137840 999C5 $$1SP Scott$$2Crossref$$9-- missing cx lookup --$$a10.1073/pnas.012329699$$p925 -$$tProc Natl Acad Sci USA$$uScott 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$$v99$$y2002