Associated Papers
Whole exome sequencing improves genetic diagnosis of fetal clubfoot.
Huang R et al.
Human Genetics, 2023
Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients.
Sharawat IK et al.
Journal of Neurosciences in Rural Practice, 2021
TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.
Cheng HL et al.
Gene, 2021
Letter to the editor regarding "TGM6 variants in Parkinson's disease: clinical findings and functional evidence".
Hall A et al.
Journal of Integrative Neuroscience, 2020
In reply to the letter to the editor regarding "TGM6 variants in Parkinson's disease: clinical findings and functional evidence".
Chen K et al.
Journal of Integrative Neuroscience, 2020
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
Manini A et al.
Bmc Neurology, 2020
TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35.
Chen Y et al.
Neurology. Genetics, 2020
TGM6 variants in Parkinson's disease: clinical findings and functional evidence.
Chen K et al.
Journal of Integrative Neuroscience, 2020
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
Fung JLF et al.
Parkinsonism & Related Disorders, 2019
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Yu AC et al.
Frontiers in Neuroscience, 2019
Mutations in TGM6 induce the unfolded protein response in SCA35.
Tripathy D et al.
Human Molecular Genetics, 2017
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.
Hekman KE et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia.
Pan LL et al.
European Journal of Human Genetics : Ejhg, 2015
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.
Guo YC et al.
Neurology, 2014
Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
Li M et al.
Clinical Genetics, 2013
Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis.
Guan WJ et al.
Biochemical and Biophysical Research Communications, 2013
Transglutaminase 6: a protein associated with central nervous system development and motor function.
Thomas H et al.
Amino Acids, 2013
The use of next-generation sequencing in movement disorders.
Krebs CE et al.
Frontiers in Genetics, 2012
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Wang JL et al.
Brain : a Journal of Neurology, 2010