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

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

Author: 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
Tübinger Autor(en):
Schüle, Rebecca
Synofzik, Matthis Benjamin
Published in: Nature Genetics (2020), Bd. 52, H. 5, S. 473-481
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/s41588-020-0615-4
ISSN: 1546-1718
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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