The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schuele, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni; Schoels, Ludger; Brice, Alexis; Huebner, Christian A.; Beetz, Christian

dc.contributor.author	Schüle-Freyer, Rebecca
dc.contributor.author	Schöls, Ludger
dc.date.accessioned	2016-06-20T13:48:45Z
dc.date.available	2016-06-20T13:48:45Z
dc.date.issued	2015
dc.identifier.issn	1750-1172
dc.identifier.uri	http://hdl.handle.net/10900/70704
dc.language.iso	en	de_DE
dc.publisher	Biomed Central Ltd	de_DE
dc.relation.uri	http://dx.doi.org/10.1186/s13023-015-0359-x	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8	de_DE
dc.type	Article	de_DE
utue.quellen.id	20160427062602_00438
utue.personen.roh	Jahic, Amir
utue.personen.roh	Khundadze, Mukhran
utue.personen.roh	Jaenisch, Nadine
utue.personen.roh	Schuele, Rebecca
utue.personen.roh	Klimpe, Sven
utue.personen.roh	Klebe, Stephan
utue.personen.roh	Frahm, Christiane
utue.personen.roh	Kassubek, Jan
utue.personen.roh	Stevanin, Giovanni
utue.personen.roh	Schoels, Ludger
utue.personen.roh	Brice, Alexis
utue.personen.roh	Huebner, Christian A.
utue.personen.roh	Beetz, Christian
dcterms.isPartOf.ZSTitelID	Orphanet Journal of Rare Diseases	de_DE
dcterms.isPartOf.ZS-Issue	Article 147	de_DE
dcterms.isPartOf.ZS-Volume	10	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE