Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Chinyere Onwumere"'
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration. Pathogenic variants in the WFS1 gene are the main causes of Wolfr
Externí odkaz:
https://doaj.org/article/82ca11f920cc43ecacd9214f61ba4b0d
Autor:
Damien Abreu, Stephen I. Stone, Toni S. Pearson, Robert C. Bucelli, Ashley N. Simpson, Stacy Hurst, Cris M. Brown, Kelly Kries, Chinyere Onwumere, Hongjie Gu, James Hoekel, Lawrence Tychsen, Gregory P. Van Stavern, Neil H. White, Bess A. Marshall, Tamara Hershey, Fumihiko Urano
Publikováno v:
JCI Insight, Vol 6, Iss 15 (2021)
BACKGROUND Wolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Although there is no treatment for Wolfram syndrome, preclinical studies in cell and roden
Externí odkaz:
https://doaj.org/article/cc59812ac3294482ac751139a8922e28
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration. Pathogenic variants in the WFS1 gene are the main causes of Wolfr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a46635ac4afe954814d9984b757bb7dc
https://doi.org/10.1101/2022.02.09.479773
https://doi.org/10.1101/2022.02.09.479773
Autor:
Ashley N Simpson, Damien Abreu, Toni S. Pearson, Hongjie Gu, Tamara Hershey, Neil H. White, Gregory P. Van Stavern, James Hoekel, Stacy Hurst, Robert C. Bucelli, Chinyere Onwumere, Cris M. Brown, Bess A. Marshall, Stephen I. Stone, Fumihiko Urano, Kelly Kries, Lawrence Tychsen
Publikováno v:
JCI Insight.
BACKGROUNDWolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Although there is no treatment for Wolfram syndrome, preclinical studies in cell and rodent
Autor:
Damien, Abreu, Stephen I, Stone, Toni S, Pearson, Robert C, Bucelli, Ashley N, Simpson, Stacy, Hurst, Cris M, Brown, Kelly, Kries, Chinyere, Onwumere, Hongjie, Gu, James, Hoekel, Lawrence, Tychsen, Gregory P, Van Stavern, Neil H, White, Bess A, Marshall, Tamara, Hershey, Fumihiko, Urano
Publikováno v:
JCI Insight
BACKGROUND Wolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Although there is no treatment for Wolfram syndrome, preclinical studies in cell and roden