Literature DB >> 34053174

Spinocerebellar ataxia type 21 (TMEM240) with tremor and dystonia.

Carlos Henrique Ferreira Camargo1, Aline K C Piva Silva2, Renato P Munhoz3, Salmo Raskin4, Hélio Afonso Ghizoni Teive1,2.   

Abstract

We congratulate Riso et al. [1] for their excellent recent publication entitled "A NGS-based analysis on a large cohort of ataxic patients refines the clinical spectrum associated with SCA21", in which they present four new families with SCA21 of Italian and Libyan origin discussing the wide phenotypic diversity of this disease. This article is protected by copyright. All rights reserved.

Entities:  

Keywords:  SCA21; dystonia; essential tremor plus; focal dystonia; spinocerebellar ataxia; spinocerebellar ataxias; tremor; whole exome sequencing

Year:  2021        PMID: 34053174     DOI: 10.1111/ene.14944

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN: 1351-5101            Impact factor:   6.089


  2 in total

Review 1.  Roles, molecular mechanisms, and signaling pathways of TMEMs in neurological diseases.

Authors:  Qinghong Chen; Junlin Fang; Hui Shen; Liping Chen; Mengying Shi; Xianbao Huang; Zhiwei Miao; Yating Gong
Journal:  Am J Transl Res       Date:  2021-12-15       Impact factor: 4.060

2.  The First Korean Family of Spinocerebellar Ataxia 21 (ATX-TMEM240) with Facial Dystonic Phenotype.

Authors:  Don Gueu Park; Min Seung Kim; Jung Han Yoon
Journal:  Cerebellum       Date:  2022-01-10       Impact factor: 3.847

  2 in total

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