Literature DB >> 33642311

Novel Compound Heterozygous SACS Mutations in a Case with a Spasticity-Lacking Phenotype of Sacsin-Related Ataxia.

You Chen1, Zhidong Cen1, Xiaosheng Zheng2, Si Chen1, Fei Xie3, Wei Luo4.   

Abstract

Entities:  

Mesh：

Year:  2021        PMID： 33642311     DOI： 10.4103/0028-3886.310115

Source DB:  PubMed          Journal:  Neurol India        ISSN： 0028-3886            Impact factor:   2.117


× No keyword cloud information.
  3 in total

Review 1.  Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Authors:  Jaya Bagaria; Eva Bagyinszky; Seong Soo A An
Journal:  Int J Mol Sci       Date:  2022-01-04       Impact factor: 5.923

2.  A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature.

Authors:  Yuchao Chen; Xiaodong Lu; Yi Jin; Dan Li; Xiaojun Ye; Chenjuan Tao; Menglu Zhou; Haibo Jiang; Hao Yu
Journal:  Front Neurol       Date:  2022-03-21       Impact factor: 4.003

Review 3.  Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Authors:  Marjolaine Tremblay; Laura Girard-Côté; Bernard Brais; Cynthia Gagnon
Journal:  Orphanet J Rare Dis       Date:  2022-10-01       Impact factor: 4.303
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.