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

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

Published:2019-01-07 Issue:6 Volume:40 Page:1287-1290
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Du Qin,Chen Hongxi,Shi Ziyan,Zhang Ying,Wang Jiancheng,Zhou Hongyu^ORCID

Funder

Sichuan Science and Technology Program

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s10072-018-3693-7.pdf

Reference8 articles.

1. Freeman SH, Hyman BT, Sims KB, Hedley-Whyte ET, Vossough A, Frosch MP, Schmahmann JD (2009) Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol 19(1):39–47. https://doi.org/10.1111/j.1750-3639.2008.00163.x

2. Stabile C, Taglia I, Battisti C, Bianchi S, Federico A (2016) Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics. Neurol Sci 37(9):1565–1569. https://doi.org/10.1007/s10072-016-2634-6

3. Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK (2011) Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 44(2):200–205. https://doi.org/10.1038/ng.1027

4. Di Donato I, Stabile C, Bianchi S, Taglia I, Mignarri A, Salvatore S, Giorgio E, Brusco A, Simone I, Dotti MT, Federico A (2015) A novel CSF1R mutation in a patient with clinical and neuroradiological features of hereditary diffuse leukoencephalopathy with axonal spheroids. J Alzheimers Dis 47(2):319–322. https://doi.org/10.3233/JAD-150097

5. Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J (2012) MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 79(6):566–574

Cited by 9 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. Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development;Frontiers in Neurology;2022-02-03

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

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

5. Three novel mutations in Chinese patients with CSF1R-related leukoencephalopathy;Annals of Translational Medicine;2021-07

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