Litcius/Paper detail

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Ashfaque Ahmed, Meng Wang, Gaber Bergant, Reza Maroofian, Rongjuan Zhao, Majid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, Wafaa Eyaid, Abdulrahman Alswaid, Christian Beetz, Qin Yan, Tengfei Zhu, Qi Tian, Lu Xia, Huidan Wu, Lu Shen, Shanshan Dong, Xinyi Yang, Cenying Liu, Linya Ma, Qiumeng Zhang, Rizwan Khan, Abid Ali Shah, Jifeng Guo, Beisha Tang, Lea Leonardis, Karin Writzl, Borut Peterlin, Hui Guo, Sajid Malik, Kun Xia, Zhengmao Hu

2020Human Genetics29 citationsDOI

Topics & Concepts

BiologyPolyneuropathyCentral nervous systemLoss functionHuman geneticsFunction (biology)Molecular medicineNeuroscienceGeneticsPathologyPhenotypeGeneMedicineCell cycleCerebrovascular and genetic disordersGenetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways