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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Nature Genetics
💎 10 分
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Andrea Cortese, Yi Zhu, Adriana P. Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J. Bacon, Yunhong Bai, Dana M. Bis-Brewer, Enrico Bugiardini, Elena Buglo, Matt C. Danzi, Shawna M. E. Feely, Alkyoni Athanasiou-Fragkouli, Nourelhoda A. Haridy, Inherited Neuropathy Consortium, Aixa Rodriguez, Alexa Bacha, Ashley Kosikowski, Beth Wood, Brett McCray, Brianna Blume, Carly Siskind, Charlotte Sumner, Daniela Calabrese, David Walk, Dragan Vujovic, Eun Park, Francesco Muntoni, Gabrielle Donlevy, Gyula Acsadi, John Day, Joshua Burns, Jun Li, Karen Krajewski, Kate Eichinger, Kayla Cornett, Krista Mullen, Perez Quiros Laura, Laurie Gutmann, Maria Barrett, Mario Saporta, Mariola Skorupinska, Natalie Grant, Paula Bray, Reza Seyedsadjadi, Riccardo Zuccarino, Richard Finkel, Richard Lewis, Rosemary R. Shy, Sabrina Yum, Sarah Hilbert, Simone Thomas, Steffen Behrens-Spraggins, Tara Jones, Thomas Lloyd, Tiffany Grider, Tim Estilow, Vera Fridman, Rosario Isasi, Alaa Khan, Matilde Laurà, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M. Rossor, Paola Saveri, Janet E. 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, Franco Taroni, Davide Pareyson, Henry Houlden, David N. Herrmann, Mary M. Reilly, Michael E. Shy, R. Grace Zhai, Stephan Zuchner
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2020 |
10.1038/s41588-020-0615-4
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付费解锁 (10分)
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