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Select item 86075511.

Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy

Xiaoxuan Liu, Ji He, Mubalake Yilihamu, Xiaohui Duan, Dongsheng Fan

Front Neurol. 2021; 12: 733926. Published online 2021 Nov 8. doi: 10.3389/fneur.2021.733926

PMCID:: PMC8607551

Abstract Article PDF–1.9M

Select item 83535992.

BIALLELIC MUTATIONS IN SORD CAUSE A COMMON AND POTENTIALLY TREATABLE HEREDITARY NEUROPATHY WITH IMPLICATIONS FOR DIABETES

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

Nat Genet. Author manuscript; available in PMC 2021 Aug 10.

Published in final edited form as: Nat Genet. 2020 May; 52(5): 473–481. Published online 2020 May 4. doi: 10.1038/s41588-020-0615-4