Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas; Haack, Tobias B.

dc.contributor.author	Hengel, Holger
dc.contributor.author	Grimmel, Mona
dc.contributor.author	Admard, Jakob
dc.contributor.author	Gazou, Anastasia
dc.contributor.author	Sturm, Marc
dc.contributor.author	Schöls, Ludger
dc.contributor.author	Rieß, Olaf
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2021-12-28T11:14:07Z
dc.date.available	2021-12-28T11:14:07Z
dc.date.issued	2021
dc.identifier.issn	1460-2156
dc.identifier.uri	http://hdl.handle.net/10900/122442
dc.language.iso	en	de_DE
dc.publisher	Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awaa418	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic truncating mutations in VWA1 cause neuromyopathy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20210824232002_02055
utue.publikation.seiten	574-583	de_DE
utue.personen.roh	Deschauer, Marcus
utue.personen.roh	Hengel, Holger
utue.personen.roh	Rupprich, Katrin
utue.personen.roh	Kreiss, Martina
utue.personen.roh	Schlotter-Weigel, Beate
utue.personen.roh	Grimmel, Mona
utue.personen.roh	Admard, Jakob
utue.personen.roh	Schneider, Ilka
utue.personen.roh	Alhaddad, Bader
utue.personen.roh	Gazou, Anastasia
utue.personen.roh	Sturm, Marc
utue.personen.roh	Vorgerd, Matthias
utue.personen.roh	Balousha, Ghassan
utue.personen.roh	Balousha, Osama
utue.personen.roh	Falna, Mohammed
utue.personen.roh	Kirschke, Jan S.
utue.personen.roh	Kornblum, Cornelia
utue.personen.roh	Jordan, Berit
utue.personen.roh	Kraya, Torsten
utue.personen.roh	Strom, Tim M.
utue.personen.roh	Weis, Joachim
utue.personen.roh	Schoels, Ludger
utue.personen.roh	Schara, Ulrike
utue.personen.roh	Zierz, Stephan
utue.personen.roh	Riess, Olaf
utue.personen.roh	Meitinger, Thomas
utue.personen.roh	Haack, Tobias B.
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	144	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE