Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

Husain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio

dc.contributor.author	Beck-Wödl, Stefanie
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2024-09-09T08:49:10Z
dc.date.available	2024-09-09T08:49:10Z
dc.date.issued	2024
dc.identifier.issn	0006-8950
dc.identifier.uri	http://hdl.handle.net/10900/157277
dc.language.iso	en	de_DE
dc.publisher	Oxford : Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awad434	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease	de_DE
dc.type	Article	de_DE
utue.quellen.id	20240730000000_00041
utue.publikation.seiten	1197-1205	de_DE
utue.personen.roh	Husain, Ralf A.
utue.personen.roh	Jiao, Xinfu
utue.personen.roh	Hennings, J. Christopher
utue.personen.roh	Giesecke, Jan
utue.personen.roh	Palsule, Geeta
utue.personen.roh	Beck-Woedl, Stefanie
utue.personen.roh	Osmanovic, Dina
utue.personen.roh	Bjorgo, Kathrine
utue.personen.roh	Mir, Asif
utue.personen.roh	Ilyas, Muhammad
utue.personen.roh	Abbasi, Saad M.
utue.personen.roh	Efthymiou, Stephanie
utue.personen.roh	Dominik, Natalia
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Houlden, Henry
utue.personen.roh	Rankin, Julia
utue.personen.roh	Pagnamenta, Alistair T.
utue.personen.roh	Nashabat, Marwan
utue.personen.roh	Altwaijri, Waleed
utue.personen.roh	Alfadhel, Majid
utue.personen.roh	Umair, Muhammad
utue.personen.roh	Khouj, Ebtissal
utue.personen.roh	Reardon, William
utue.personen.roh	El-Hattab, Ayman W.
utue.personen.roh	Mekki, Mohammed
utue.personen.roh	Houge, Gunnar
utue.personen.roh	Beetz, Christian
utue.personen.roh	Bauer, Peter
utue.personen.roh	Putoux, Audrey
utue.personen.roh	Lesca, Gaetan
utue.personen.roh	Sanlaville, Damien
utue.personen.roh	Alkuraya, Fowzan S.
utue.personen.roh	Taylor, Robert W.
utue.personen.roh	Mentzel, Hans-Joachim
utue.personen.roh	Huebner, Christian A.
utue.personen.roh	Huppke, Peter
utue.personen.roh	Hart, Ronald P.
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Kiledjian, Megerditch
utue.personen.roh	Rubio, Ignacio
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Issue	4	de_DE
dcterms.isPartOf.ZS-Volume	147	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE