A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35-Reference-Cited by-同舟云学术

A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35

Published:2019-06 Issue: Volume:63 Page:42-45
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Fung Jasmine L.F.,Tsang Mandy H.Y.,Leung Gordon K.C.,Yeung Kit San,Mak Christopher C.Y.,Fung Cheuk Wing,Chan Sophelia H.S.,Yu Mullin H.C.,Chung Brian H.Y.

Funder

The Society for the Relief of Disabled Children, Hong Kong

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference16 articles.

1. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing;Wang;Brain,2010

2. A general framework for estimating the relative pathogenicity of human genetic variants;Kircher;Nat. Genet.,2014

3. Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization;Guo;Neurology,2014

4. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family;Li;Clin. Genet.,2013

5. Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia;Pan;Eur. J. Hum. Genet.,2015

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1. Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family;Movement Disorders Clinical Practice;2023-03-27

2. Intragenic L1 Insertion: One Possibility of Brain Disorder;Life;2022-09-13

3. Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients;Journal of Neurosciences in Rural Practice;2021-09-20

4. Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology;International Journal of Molecular Sciences;2021-07-07

5. TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study;Gene;2021-05