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Paper   IPM / Biological Sciences / 17299
School of Biological Sciences
  Title:   Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy
  Author(s): 
1.  Marzieh Khani
2.  Shahriar Nafissi
3.  Hosein Shamshiri
4.  Hamidreza Moazzeni
5.  Hanieh Taheri
6.  Mehdi Sadeghi
7.  Najmeh Salehi
8.  Fereshteh Chitsazian
9.  Elahe Elahi
  Status:   Published
  Journal: European Journal of Neurology
  Year:  2022
  Supported by:  IPM
  Abstract:
Spinal bulbar muscular atrophy (SBMA) (Kennedy's disease) is a motor neuron disease. Kennedy's disease is nearly exclusively caused by mutations in the androgen receptor encoding gene (AR). The results of studies aimed at identification of the genetic cause of a disease that best approximates SBMA in a pedigree (four patients) without mutations in AR are reported.

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