Identification of <scp> <i>UBA1</i> </scp> as the causative gene of an X‐linked <scp>non‐Kennedy</scp> spinal–bulbar muscular atrophy-Reference-Cited by-同舟云学术

Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy

Published:2022-09-13 Issue:12 Volume:29 Page:3556-3563
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Euro J of Neurology

Author:

Khani Marzieh¹²,Nafissi Shahriar²³^ORCID,Shamshiri Hosein²³,Moazzeni Hamidreza¹,Taheri Hanieh¹,Sadeghi Mehdi⁴,Salehi Najmeh⁵^ORCID,Chitsazian Fereshteh⁶,Elahi Elahe¹²^ORCID

Affiliation:

1. School of Biology, College of Science University of Tehran Tehran Iran

2. Iranian Neuromusclar Research Center Tehran University of Medical Sciences Tehran Iran

3. Department of Neurology Tehran University of Medical Sciences Tehran Iran

4. National Institute for Genetic Engineering and Biotechnology Tehran Iran

5. School of Biological Science Institute for Research in Fundamental Sciences (IPM) Tehran Iran

6. Institute of Biochemistry and Biophysics University of Tehran Tehran Iran

Funder

Iran National Science Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.15528

Reference56 articles.

1. Progressive proximal spinal and bulbar muscular atrophy of late onset: A sex-linked recessive trait

2. Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease

3. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients

4. Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

5. X-linked spinomuscular atrophy: A kindred with associated abnormal androgen receptor binding

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