Literature DB >> 28431625

TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation.

Abhimanyu Mahajan1, Christos Sidiropoulos2.   

Abstract

Entities:  

Keywords:  Childhood onset generalized dystonia; Genetic dystonia; Movement disorders; Thiamine

Mesh：

Substances：

Year:  2017        PMID： 28431625     DOI： 10.1016/j.jns.2017.02.063

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  3 in total

1.  Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Authors:  Enrico Bugiardini; Simon Pope; René G Feichtinger; Olivia V Poole; Alan M Pittman; Cathy E Woodward; Simon Heales; Rosaline Quinlivan; Henry Houlden; Johannes A Mayr; Michael G Hanna; Robert D S Pitceathly
Journal:  J Clin Med       Date:  2019-07-08       Impact factor: 4.241

Review 2.  A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

Authors:  Juan Darío Ortigoza-Escobar
Journal:  Front Neurol       Date:  2020-11-13       Impact factor: 4.003

3.  Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease.

Authors:  Xiaoyan Li; Zhixin Huang; Yong Chen; Xiaolan Sun; Zhaoshi Yi; Jihua Xie; Xiongying Yu; Hui Chen; Jianmin Zhong
Journal:  BMC Neurol       Date:  2022-09-29       Impact factor: 2.903
  3 in total

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