A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids-Reference-Cited by-同舟云学术

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A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids

Published:2013-09 Issue:1-2 Volume:332 Page:141-144
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Ahmed Rebekah,Guerreiro Rita,Rohrer Jonathan D.,Guven Gamze,Rossor Martin N.,Hardy John,Fox Nick C.

Funder

Alzheimer's Research UK

Brain Research Trust

NIHR Queen Square Dementia BRU

MRC Senior Fellowship

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference11 articles.

1. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids;Rademakers;Nat Genet,2012

2. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity;Sundal;J Neurol Sci,2012

3. Predicting the functional effect of amino acid substitutions and indels;Choi;PLoS One,2012

4. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

5. CSF1R related hereditary diffuse leukoencephalopathy with spheroids;Sundal,1993

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies;Frontiers in Neurology;2024-03-11

2. Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy;Acta Neuropathologica;2022-06-17

3. The Primary Microglial Leukodystrophies: A Review;International Journal of Molecular Sciences;2022-06-06

4. Neuroimaging phenotypes of CSF1R ‐related leukoencephalopathy: Systematic review, meta‐analysis, and imaging recommendations;Journal of Internal Medicine;2021-12-22

5. Modeling CSF‐1 receptor deficiency diseases – how close are we?;The FEBS Journal;2021-07-05

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