Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum

Krenn, Martin; Salzer, Elisabeth; Simonitsch-Klupp, Ingrid; Rath, Jakob; Wagner, Matias; Haack, Tobias B.; Strom, Tim M.; Schaenzer, Anne; Kilimann, Manfred W.; Schmidt, Ralf L. J.; Schmetterer, Klaus G.; Zimprich, Alexander; Boztug, Kaan; Hahn, Andreas; Zimprich, Fritz

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2019-12-09T15:53:57Z
dc.date.available	2019-12-09T15:53:57Z
dc.date.issued	2018
dc.identifier.issn	1432-1459
dc.identifier.uri	http://hdl.handle.net/10900/95639
dc.language.iso	en	en
dc.publisher	Springer Heidelberg	de_DE
dc.relation.uri	http://dx.doi.org/10.1007/s00415-017-8710-x	de_DE
dc.subject.ddc	610	de_DE
dc.title	Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190321153956_03827
utue.publikation.seiten	394-401	de_DE
utue.personen.roh	Krenn, Martin
utue.personen.roh	Salzer, Elisabeth
utue.personen.roh	Simonitsch-Klupp, Ingrid
utue.personen.roh	Rath, Jakob
utue.personen.roh	Wagner, Matias
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Strom, Tim M.
utue.personen.roh	Schaenzer, Anne
utue.personen.roh	Kilimann, Manfred W.
utue.personen.roh	Schmidt, Ralf L. J.
utue.personen.roh	Schmetterer, Klaus G.
utue.personen.roh	Zimprich, Alexander
utue.personen.roh	Boztug, Kaan
utue.personen.roh	Hahn, Andreas
utue.personen.roh	Zimprich, Fritz
dcterms.isPartOf.ZSTitelID	Journal of Neurology	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	265	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE