Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E. S.; Burke, Derek; Demailly, Diane; Kumar, Kishore R.; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Skorvanek, Matej; Necpal, Jan; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A.; Verschuuren, Corien; van Egmond, Martje E.; Flowers, Joanna M.; McEntagart, Meriel; Tucci, Arianna; Coubes, Philippe; Bustos, Bernabe I.; Gonzalez-Latapi, Paulina; Tisch, Stephen; Darveniza, Paul; Gorman, Kathleen M.; Peall, Kathryn J.; Boetzel, Kai; Koch, Jan C.; Kmiec, Tomasz; Plecko, Barbara; Boesch, Sylvia; Haslinger, Bernhard; Jech, Robert; Garavaglia, Barbara; Wood, Nick; Houlden, Henry; Gissen, Paul; Lubbe, Steven J.; Sue, Carolyn M.; Cif, Laura; Mencacci, Niccolo E.; Anderson, Glenn; Kurian, Manju A.; Winkelmann, Juliane

dc.contributor.author	Wiethoff, Sarah
dc.date.accessioned	2021-06-29T11:40:50Z
dc.date.available	2021-06-29T11:40:50Z
dc.date.issued	2020
dc.identifier.issn	1531-8249
dc.identifier.uri	http://hdl.handle.net/10900/116536
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/ana.25879	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities	de_DE
dc.type	Article	de_DE
utue.quellen.id	20210304112512_01460
utue.publikation.seiten	867-877	de_DE
utue.personen.roh	Steel, Dora
utue.personen.roh	Zech, Michael
utue.personen.roh	Zhao, Chen
utue.personen.roh	Barwick, Katy E. S.
utue.personen.roh	Burke, Derek
utue.personen.roh	Demailly, Diane
utue.personen.roh	Kumar, Kishore R.
utue.personen.roh	Zorzi, Giovanna
utue.personen.roh	Nardocci, Nardo
utue.personen.roh	Kaiyrzhanov, Rauan
utue.personen.roh	Wagner, Matias
utue.personen.roh	Iuso, Arcangela
utue.personen.roh	Berutti, Riccardo
utue.personen.roh	Skorvanek, Matej
utue.personen.roh	Necpal, Jan
utue.personen.roh	Davis, Ryan
utue.personen.roh	Wiethoff, Sarah
utue.personen.roh	Mankad, Kshitij
utue.personen.roh	Sudhakar, Sniya
utue.personen.roh	Ferrini, Arianna
utue.personen.roh	Sharma, Suvasini
utue.personen.roh	Kamsteeg, Erik-Jan
utue.personen.roh	Tijssen, Marina A.
utue.personen.roh	Verschuuren, Corien
utue.personen.roh	van Egmond, Martje E.
utue.personen.roh	Flowers, Joanna M.
utue.personen.roh	McEntagart, Meriel
utue.personen.roh	Tucci, Arianna
utue.personen.roh	Coubes, Philippe
utue.personen.roh	Bustos, Bernabe I.
utue.personen.roh	Gonzalez-Latapi, Paulina
utue.personen.roh	Tisch, Stephen
utue.personen.roh	Darveniza, Paul
utue.personen.roh	Gorman, Kathleen M.
utue.personen.roh	Peall, Kathryn J.
utue.personen.roh	Boetzel, Kai
utue.personen.roh	Koch, Jan C.
utue.personen.roh	Kmiec, Tomasz
utue.personen.roh	Plecko, Barbara
utue.personen.roh	Boesch, Sylvia
utue.personen.roh	Haslinger, Bernhard
utue.personen.roh	Jech, Robert
utue.personen.roh	Garavaglia, Barbara
utue.personen.roh	Wood, Nick
utue.personen.roh	Houlden, Henry
utue.personen.roh	Gissen, Paul
utue.personen.roh	Lubbe, Steven J.
utue.personen.roh	Sue, Carolyn M.
utue.personen.roh	Cif, Laura
utue.personen.roh	Mencacci, Niccolo E.
utue.personen.roh	Anderson, Glenn
utue.personen.roh	Kurian, Manju A.
utue.personen.roh	Winkelmann, Juliane
dcterms.isPartOf.ZSTitelID	Annals of Neurology	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	88	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE