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5 articles related to "Hbsl"

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Articles

Case Report

Published on 26 Apr 2022

Case Report: DARS Mutations Responsible for Hypomyelination With Brain Stem and Spinal Cord Involvement and Leg Spasticity

in Genetics of Common and Rare Diseases

Meijun Liu
Wen Xiao
Fang Yang
Xueqing Wang
Chao Chen
Shuoguo Jin
Ningjing Ran
Weiyin Chen
Dongdong Yang

Frontiers in Genetics

doi 10.3389/fgene.2022.845967

3,307 views
3 citations

Mini Review

Published on 12 Jan 2023

Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations

in Genetics of Common and Rare Diseases

Jingyi Zhu
Xiaomin Guo
Ningjing Ran
Jingtao Liang
Fuyou Liu
Junyan Liu
Rongyu Wang
Lianyan Jiang
Dongdong Yang
Meijun Liu

Frontiers in Genetics

doi 10.3389/fgene.2022.1009230

3,984 views
3 citations

Original Research

Published on 20 Mar 2018

Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain

in Molecular Signalling and Pathways

Dominik Fröhlich
Alexandra K. Suchowerska
Carola Voss
Ruojie He
Ernst Wolvetang
Georg von Jonquieres
Cas Simons
Thomas Fath
Gary D. Housley
Matthias Klugmann

Frontiers in Molecular Neuroscience

doi 10.3389/fnmol.2018.00081

6,601 views
22 citations

Original Research

Published on 20 Jan 2021

A Hypomorphic Dars1D367Y Model Recapitulates Key Aspects of the Leukodystrophy HBSL

in Cellular Neuropathology

Dominik Fröhlich
Marisa I. Mendes
Andrew J. Kueh
Andre Bongers
Marco J. Herold
Gajja S. Salomons
Gary D. Housley
Matthias Klugmann

Frontiers in Cellular Neuroscience

doi 10.3389/fncel.2020.625879

4,882 views
10 citations

Review

Published on 26 Jan 2021

The Leukodystrophies HBSL and LBSL—Correlates and Distinctions

in Cellular Neuropathology

Annapoorani Muthiah
Gary D. Housley
Matthias Klugmann
Dominik Fröhlich

Frontiers in Cellular Neuroscience

doi 10.3389/fncel.2020.626610

12,207 views
14 citations