Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy-Reference-Cited by-同舟云学术

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

Published:2019-11 Issue:5 Volume:105 Page:996-1004
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Yan Huifang,Helman Guy,Murthy Swetha E.,Ji Haoran,Crawford Joanna,Kubisiak Thomas,Bent Stephen J.,Xiao Jiangxi,Taft Ryan J.,Coombs Adam,Wu Ye,Pop Ana,Li Dongxiao,de Vries Linda S.,Jiang Yuwu,Salomons Gajja S.,van der Knaap Marjo S.,Patapoutian Ardem,Simons Cas,Burmeister Margit,Wang Jingmin,Wolf Nicole I.

Funder

National Key Research and Development Program of China

UMHS-PUHSC Joint Institute for Translational and Clinical Research

Australian National Health and Medical Research Council

Victorian Government’s Operational Infrastructure Support Program

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference29 articles.

1. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms;van der Knaap;Acta Neuropathol.,2017

2. Update on Leukodystrophies: A Historical Perspective and Adapted Definition;Kevelam;Neuropediatrics,2016