Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Dohrn, Maike F.; Beijer, Danique; Lone, Museer A.; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A. Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J.; Gable, Kenneth; Dunn, Teresa; Chen, Sitong; Danzi, Matt C.; Synofzik, Matthis; Boennemann, Carsten G.; Basak, A. Nazli; Hornemann, Thorsten; Zuchner, Stephan

dc.contributor.author	Beijer, Danique
dc.contributor.author	Synofzik, Matthis
dc.date.accessioned	2024-08-14T10:25:38Z
dc.date.available	2024-08-14T10:25:38Z
dc.date.issued	2024
dc.identifier.issn	0022-3050
dc.identifier.uri	http://hdl.handle.net/10900/156807
dc.language.iso	en	en
dc.publisher	London : Bmj Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1136/jnnp-2023-332130
dc.subject.ddc	610	de_DE
dc.title	Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis	de_DE
dc.type	Article	de_DE
utue.quellen.id	20240422000000_01313
utue.publikation.seiten	201-205	de_DE
utue.personen.roh	Dohrn, Maike F.
utue.personen.roh	Beijer, Danique
utue.personen.roh	Lone, Museer A.
utue.personen.roh	Bayraktar, Elif
utue.personen.roh	Oflazer, Piraye
utue.personen.roh	Orbach, Rotem
utue.personen.roh	Donkervoort, Sandra
utue.personen.roh	Foley, A. Reghan
utue.personen.roh	Rose, Aubrey
utue.personen.roh	Lyons, Michael
utue.personen.roh	Louie, Raymond J.
utue.personen.roh	Gable, Kenneth
utue.personen.roh	Dunn, Teresa
utue.personen.roh	Chen, Sitong
utue.personen.roh	Danzi, Matt C.
utue.personen.roh	Synofzik, Matthis
utue.personen.roh	Boennemann, Carsten G.
utue.personen.roh	Basak, A. Nazli
utue.personen.roh	Hornemann, Thorsten
utue.personen.roh	Zuchner, Stephan
dcterms.isPartOf.ZSTitelID	Journal of Neurology Neurosurgery and Psychiatry	de_DE
dcterms.isPartOf.ZS-Issue	3	de_DE
dcterms.isPartOf.ZS-Volume	95	de_DE
utue.fakultaet	04 Medizinische Fakultät
utue.fakultaet	Sonstige