Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; Isasi, Rosario; Khan, Alaa; Laura, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schuele, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan

dc.contributor.author	Schüle-Freyer, Rebecca
dc.contributor.author	Synofzik, Matthis
dc.date.accessioned	2020-09-08T10:11:05Z
dc.date.available	2020-09-08T10:11:05Z
dc.date.issued	2020
dc.identifier.issn	1546-1718
dc.identifier.uri	http://hdl.handle.net/10900/106377
dc.language.iso	en	de_DE
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41588-020-0615-4	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200715072417_00542
utue.publikation.seiten	473-481	de_DE
utue.personen.roh	Cortese, Andrea
utue.personen.roh	Zhu, Yi
utue.personen.roh	Rebelo, Adriana P.
utue.personen.roh	Negri, Sara
utue.personen.roh	Courel, Steve
utue.personen.roh	Abreu, Lisa
utue.personen.roh	Bacon, Chelsea J.
utue.personen.roh	Bai, Yunhong
utue.personen.roh	Bis-Brewer, Dana M.
utue.personen.roh	Bugiardini, Enrico
utue.personen.roh	Buglo, Elena
utue.personen.roh	Danzi, Matt C.
utue.personen.roh	Feely, Shawna M. E.
utue.personen.roh	Athanasiou-Fragkouli, Alkyoni
utue.personen.roh	Haridy, Nourelhoda A.
utue.personen.roh	Isasi, Rosario
utue.personen.roh	Khan, Alaa
utue.personen.roh	Laura, Matilde
utue.personen.roh	Magri, Stefania
utue.personen.roh	Pipis, Menelaos
utue.personen.roh	Pisciotta, Chiara
utue.personen.roh	Powell, Eric
utue.personen.roh	Rossor, Alexander M.
utue.personen.roh	Saveri, Paola
utue.personen.roh	Sowden, Janet E.
utue.personen.roh	Tozza, Stefano
utue.personen.roh	Vandrovcova, Jana
utue.personen.roh	Dallman, Julia
utue.personen.roh	Grignani, Elena
utue.personen.roh	Marchioni, Enrico
utue.personen.roh	Scherer, Steven S.
utue.personen.roh	Tang, Beisha
utue.personen.roh	Lin, Zhiqiang
utue.personen.roh	Al-Ajmi, Abdullah
utue.personen.roh	Schuele, Rebecca
utue.personen.roh	Synofzik, Matthis
utue.personen.roh	Maisonobe, Thierry
utue.personen.roh	Stojkovic, Tanya
utue.personen.roh	Auer-Grumbach, Michaela
utue.personen.roh	Abdelhamed, Mohamed A.
utue.personen.roh	Hamed, Sherifa A.
utue.personen.roh	Zhang, Ruxu
utue.personen.roh	Manganelli, Fiore
utue.personen.roh	Santoro, Lucio
utue.personen.roh	Taroni, Franco
utue.personen.roh	Pareyson, Davide
utue.personen.roh	Houlden, Henry
utue.personen.roh	Herrmann, David N.
utue.personen.roh	Reilly, Mary M.
utue.personen.roh	Shy, Michael E.
utue.personen.roh	Zhai, R. Grace
utue.personen.roh	Zuchner, Stephan
dcterms.isPartOf.ZSTitelID	Nature Genetics	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	52	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE