Literature DB >> 28927799

TGM6 gene mutations in undiagnosed cerebellar ataxia patients.

Zhi-Hua Yang1, Meng-Meng Shi1, Yu-Tao Liu1, Yan-Lin Wang1, Hai-Yang Luo1, Zhi-Lei Wang1, Chang-He Shi2, Yu-Ming Xu3.   

Abstract

Entities:  

Keywords:  Mutations; SCA35; Spinocerebellar ataxias

Mesh：

Substances：

Year:  2017        PMID： 28927799     DOI： 10.1016/j.parkreldis.2017.07.001

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  4 in total

1.  Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.

Authors:  Chih-Chun Lin; Shi-Rui Gan; Deepak Gupta; Armin Alaedini; Peter H Green; Sheng-Han Kuo
Journal:  Cerebellum       Date:  2019-04       Impact factor: 3.847

2.  TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35.

Authors:  Yanxing Chen; Dengchang Wu; Benyan Luo; Guohua Zhao; Kang Wang
Journal:  Neurol Genet       Date:  2020-04-22

3.  A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.

Authors:  Arianna Manini; Tommaso Bocci; Alice Migazzi; Edoardo Monfrini; Dario Ronchi; Giulia Franco; Anna De Rosa; Ferdinando Sartucci; Alberto Priori; Stefania Corti; Giacomo Pietro Comi; Nereo Bresolin; Manuela Basso; Alessio Di Fonzo
Journal:  BMC Neurol       Date:  2020-11-07       Impact factor: 2.474

4.  Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology.

Authors:  Luca Marsili; Jennifer Sharma; Alberto J Espay; Alice Migazzi; Elhusseini Abdelghany; Emily J Hill; Kevin R Duque; Matthew C Hagen; Christopher D Stephen; Gabor G Kovacs; Anthony E Lang; Marios Hadjivassiliou; Manuela Basso; Marcelo A Kauffman; Andrea Sturchio
Journal:  Int J Mol Sci       Date:  2021-07-07       Impact factor: 5.923
  4 in total

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