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Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.
Annals of Clinical and Translational Neurology ( IF 4.4 ) Pub Date : 2019-12-15 , DOI: 10.1002/acn3.50928 Shu-Man Feng 1 , Chun-Hui Che 2 , Shu-Yan Feng 3 , Chang-Yun Liu 2 , Liu-Yi Li 1 , Yuan-Xiao Li 2 , Hua-Pin Huang 2 , Zhang-Yu Zou 2
Annals of Clinical and Translational Neurology ( IF 4.4 ) Pub Date : 2019-12-15 , DOI: 10.1002/acn3.50928 Shu-Man Feng 1 , Chun-Hui Che 2 , Shu-Yan Feng 3 , Chang-Yun Liu 2 , Liu-Yi Li 1 , Yuan-Xiao Li 2 , Hua-Pin Huang 2 , Zhang-Yu Zou 2
Affiliation
Mutations in optineurin (OPTN) have been identified in familial and sporadic amyotrophic lateral sclerosis (ALS). We screened a cohort of Chinese patients for mutations in optineurin. We also performed an extensive literatures review of all mutations in optineurin identified previously to detect genotype–phenotype associations.
更新日期：2019-12-15
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