Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

Mencacci, Niccolo E.; Brockmann, Marisa M.; Dai, Jinye; Pajusalu, Sander; Atasu, Burcu; Campos, Joaquin; Pino, Gabriela; Gonzalez-Latapi, Paulina; Patzke, Christopher; Schwake, Michael; Tucci, Arianna; Pittman, Alan; Simon-Sanchez, Javier; Carvill, Gemma L.; Balint, Bettina; Wiethoff, Sarah; Warner, Thomas T.; Papandreou, Apostolos; Soo, Audrey; Rein, Reet; Kadastik-Eerme, Liis; Puusepp, Sanna; Reinson, Karit; Tomberg, Tiiu; Hanagasi, Hasmet; Gasser, Thomas; Bhatia, Kailash P.; Kurian, Manju A.; Lohmann, Ebba; Ounap, Katrin; Rosenmund, Christian; Sudhof, Thomas C.; Wood, Nicholas W.; Krainc, Dimitri; Acuna, Claudio

dc.contributor.author	Atasu, Burcu
dc.contributor.author	Simón-Sánchez, Javier
dc.contributor.author	Wiethoff, Sarah
dc.contributor.author	Gasser, Thomas
dc.contributor.author	Lohmann, Ebba
dc.date.accessioned	2021-12-28T07:46:19Z
dc.date.available	2021-12-28T07:46:19Z
dc.date.issued	2021
dc.identifier.issn	1558-8238
dc.identifier.uri	http://hdl.handle.net/10900/122418
dc.language.iso	en	de_DE
dc.publisher	Amer Soc Clinical Investigation Inc	de_DE
dc.relation.uri	http://dx.doi.org/10.1172/JCI140625	de_DE
dc.subject.ddc	610	de_DE
dc.title	Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20210824232002_01630
utue.personen.roh	Mencacci, Niccolo E.
utue.personen.roh	Brockmann, Marisa M.
utue.personen.roh	Dai, Jinye
utue.personen.roh	Pajusalu, Sander
utue.personen.roh	Atasu, Burcu
utue.personen.roh	Campos, Joaquin
utue.personen.roh	Pino, Gabriela
utue.personen.roh	Gonzalez-Latapi, Paulina
utue.personen.roh	Patzke, Christopher
utue.personen.roh	Schwake, Michael
utue.personen.roh	Tucci, Arianna
utue.personen.roh	Pittman, Alan
utue.personen.roh	Simon-Sanchez, Javier
utue.personen.roh	Carvill, Gemma L.
utue.personen.roh	Balint, Bettina
utue.personen.roh	Wiethoff, Sarah
utue.personen.roh	Warner, Thomas T.
utue.personen.roh	Papandreou, Apostolos
utue.personen.roh	Soo, Audrey
utue.personen.roh	Rein, Reet
utue.personen.roh	Kadastik-Eerme, Liis
utue.personen.roh	Puusepp, Sanna
utue.personen.roh	Reinson, Karit
utue.personen.roh	Tomberg, Tiiu
utue.personen.roh	Hanagasi, Hasmet
utue.personen.roh	Gasser, Thomas
utue.personen.roh	Bhatia, Kailash P.
utue.personen.roh	Kurian, Manju A.
utue.personen.roh	Lohmann, Ebba
utue.personen.roh	Ounap, Katrin
utue.personen.roh	Rosenmund, Christian
utue.personen.roh	Sudhof, Thomas C.
utue.personen.roh	Wood, Nicholas W.
utue.personen.roh	Krainc, Dimitri
utue.personen.roh	Acuna, Claudio
dcterms.isPartOf.ZSTitelID	Journal of Clinical Investigation	de_DE
dcterms.isPartOf.ZS-Issue	Article e140625	de_DE
dcterms.isPartOf.ZS-Volume	131 (7)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE