Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne; Haack, Tobias B.

dc.contributor.author	Laugwitz, Lucia
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2019-07-16T08:33:46Z
dc.date.available	2019-07-16T08:33:46Z
dc.date.issued	2018
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/90583
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2018.10.005	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190321153956_00615
utue.publikation.seiten	817-825	de_DE
utue.personen.roh	Danhauser, Katharina
utue.personen.roh	Alhaddad, Bader
utue.personen.roh	Makowski, Christine
utue.personen.roh	Piekutowska-Abramczuk, Dorota
utue.personen.roh	Syrbe, Steffen
utue.personen.roh	Gomez-Ospina, Natalia
utue.personen.roh	Manning, Melanie A.
utue.personen.roh	Kostera-Pruszczyk, Anna
utue.personen.roh	Krahn-Peper, Claudia
utue.personen.roh	Berutti, Riccardo
utue.personen.roh	Kovacs-Nagy, Reka
utue.personen.roh	Gusic, Mirjana
utue.personen.roh	Graf, Elisabeth
utue.personen.roh	Laugwitz, Lucia
utue.personen.roh	Roeblitz, Michaela
utue.personen.roh	Wroblewski, Andreas
utue.personen.roh	Hartmann, Hans
utue.personen.roh	Das, Anibh M.
utue.personen.roh	Bueltmann, Eva
utue.personen.roh	Fang, Fang
utue.personen.roh	Xu, Manting
utue.personen.roh	Schatz, Ulrich A.
utue.personen.roh	Karall, Daniela
utue.personen.roh	Zellner, Herta
utue.personen.roh	Haberlandt, Edda
utue.personen.roh	Feichtinger, Rene G.
utue.personen.roh	Mayr, Johannes A.
utue.personen.roh	Meitinger, Thomas
utue.personen.roh	Prokisch, Holger
utue.personen.roh	Strom, Tim M.
utue.personen.roh	Ploski, Rafal
utue.personen.roh	Hoffmann, Georg F.
utue.personen.roh	Pronicki, Maciej
utue.personen.roh	Bonnen, Penelope E.
utue.personen.roh	Morlot, Susanne
utue.personen.roh	Haack, Tobias B.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	103	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE