SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause-Reference-Cited by-同舟云学术

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause

Published:2024-04-02 Issue:2 Volume:38 Page:35-40
ISSN:0167-7063
Container-title:Journal of Neurogenetics
language:en
Short-container-title:Journal of Neurogenetics

Author:

Arlt Annabelle¹²,Akova-Öztürk Esra²,Schirmacher Anja³,Schlüter Bernhard³,Rust Stephan³⁴,Meyer zu Hörste Gerd²,Wiendl Heinz²,Wiethoff Sarah²⁵

Affiliation:

1. Institute of Human Genetics, University of Münster, Münster, Germany

2. Department of Neurology with Institute of Translational Neurology, University of Münster, Münster, Germany

3. UKM Laboratory, University of Münster, Münster, Germany

4. Department of General Pediatrics, University of Münster, Münster, Germany

5. UCL Queen Square Institute of Neurology, London, UK

Funder

Ministry of Science, Research

Arts of Baden-Württemberg

European Social Fund (ESF) of Baden-Württemberg

UPS-NDDiag project from European Joint Programme Rare Disease

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/01677063.2024.2374898

Reference15 articles.

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

2. Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

3. The Sorbitol Pathway and the Complications of Diabetes

4. The sorbitol pathway in the human lens: Aldose reductase and polyol dehydrogenase;Jedziniak J. A.;Investigative Ophthalmology & Visual Science,1981

5. Long-term treatment with fidarestat suppresses the development of diabetic retinopathy in STZ-induced diabetic rats