A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

Beijer, Danique; Dohrn, Maike F.; Rebelo, Adriana; Danzi, Matt C.; Grosz, Bianca Rose; Ellis, Melina; Kumar, Kishore R.; Vucic, Steve; Vais, Horia; Weissenrieder, Jillian S.; Lunko, Olesia; Paudel, Usha; Simpson, Leah C.; Camarena, Vladimir; Raposo, Jacquelyn; Saporta, Mario; Arcia, Yeisha; Xu, Isaac; Feely, Shawna; Record, Christopher J.; Blake, Julian; Reilly, Mary M.; Scherer, Steven S.; Kennerson, Marina; Lee, Yi-Chung; Foskett, J. Kevin; Shy, Michael E.; Inherited Neuropathy Consortium, Stephan; Zuchner, Stephan

dc.contributor.author	Beijer, Danique
dc.date.accessioned	2025-04-25T09:40:10Z
dc.date.available	2025-04-25T09:40:10Z
dc.date.issued	2024
dc.identifier.issn	0006-8950
dc.identifier.uri	http://hdl.handle.net/10900/164675
dc.language.iso	en	en
dc.publisher	Oxford : Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awae206
dc.subject.ddc	610	de_DE
dc.subject.ddc	570	de_DE
dc.title	A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity	de_DE
dc.type	Article	de_DE
utue.quellen.id	20250203000000_00162
utue.publikation.seiten	227-237	de_DE
utue.personen.roh	Beijer, Danique
utue.personen.roh	Dohrn, Maike F.
utue.personen.roh	Rebelo, Adriana
utue.personen.roh	Danzi, Matt C.
utue.personen.roh	Grosz, Bianca Rose
utue.personen.roh	Ellis, Melina
utue.personen.roh	Kumar, Kishore R.
utue.personen.roh	Vucic, Steve
utue.personen.roh	Vais, Horia
utue.personen.roh	Weissenrieder, Jillian S.
utue.personen.roh	Lunko, Olesia
utue.personen.roh	Paudel, Usha
utue.personen.roh	Simpson, Leah C.
utue.personen.roh	Camarena, Vladimir
utue.personen.roh	Raposo, Jacquelyn
utue.personen.roh	Saporta, Mario
utue.personen.roh	Arcia, Yeisha
utue.personen.roh	Xu, Isaac
utue.personen.roh	Feely, Shawna
utue.personen.roh	Record, Christopher J.
utue.personen.roh	Blake, Julian
utue.personen.roh	Reilly, Mary M.
utue.personen.roh	Scherer, Steven S.
utue.personen.roh	Kennerson, Marina
utue.personen.roh	Lee, Yi-Chung
utue.personen.roh	Foskett, J. Kevin
utue.personen.roh	Shy, Michael E.
utue.personen.roh	Inherited Neuropathy Consortium, Stephan
utue.personen.roh	Zuchner, Stephan
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Issue	1	de_DE
dcterms.isPartOf.ZS-Volume	148	de_DE
utue.fakultaet	04 Medizinische Fakultät