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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/biallelic-mutations-in-sord-cause-a-common-and-potentially-treatable-hereditary/

## Facts

| Field | Value |
| --- | --- |
| Author Names | 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 Feely,Alkyoni Athanasiou‐Fragkouli,Nourelhoda A. Haridy,Aixa Rodríguez,Alexa Bacha,Ashley Kosikowski,Beth Wood,Brett A. McCray,Brianna Blume,Carly E. Siskind,Charlotte J. Sumner,Daniela Calabrese,David Walk,Dragan Vujović,Eun Hye Park,Francesco Muntoni,Gabrielle Donlevy,Gyula Acsádi,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 Sadjadi,Riccardo Zuccarino,Richard S. Finkel,Richard A. Lewis,Rosemary Shy,Sabrina W. Yum,Sarah Hilbert,Simone Thomas,Steffen Behrens‐Spraggins,Tara Jones,Thomas E. Lloyd,Tiffany Grider,Tim Estilow,Vera Fridman,Rosario Isasi,Alaa Khan,Matilde Laurá,Stefania Magri,Menelaos Pipis,Chiara Pisciotta,Eric Powell,Alexander M. Rossor,Paola Saveri,Janet E. Sowden,Stefano Tozza,Jana Vandrovcová,Julia E. 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 Züchner |
| Citations | 177 |
| DOI | 10.1038/s41588-020-0615-4 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | https://www.ncbi.nlm.nih.gov/pmc/articles/8353599 |
| OpenAlex ID | https://openalex.org/W3023774503 |
| PMID | 32367058 |
| Type | article |
| Year | 2020 |

## Paper authors

- [Sherifa A. Hamed](https://scholariq.org/researchers/sherifa-a-hamed/)

## Paper primary topic

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

## Paper topics

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Endoplasmic Reticulum Stress and Disease](https://scholariq.org/topics/endoplasmic-reticulum-stress-and-disease/)
- [Pancreatic function and diabetes](https://scholariq.org/topics/pancreatic-function-and-diabetes/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.