Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities-Reference-Cited by-同舟云学术

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Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities

Published:2018-04-03 Issue:6 Volume:25 Page:875-881
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Konno T.¹²,Miura T.²³,Harriott A. M.⁴,Mezaki N.²³,Edwards E. S.¹,Rademakers R.⁵,Ross O. A.⁵,Meschia J. F.¹,Ikeuchi T.³^ORCID,Wszolek Z. K.¹^ORCID

Affiliation:

1. Department of Neurology; Mayo Clinic; Jacksonville FL USA

2. Department of Neurology; Brain Research Institute; Niigata University; Niigata

3. Department of Molecular Genetics; Brain Research Institute; Niigata University; Niigata Japan

4. Department of Neurology; Massachusetts General Hospital; Boston MA

5. Department of Neuroscience; Mayo Clinic; Jacksonville FL USA

Funder

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

Japan Agency for Medical Research and Development

National Institutes of Health

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ene.13611/fullpdf

Reference20 articles.

1. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids;Rademakers;Nat Genet,2011

2. Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation;Konno;Eur J Neurol,2017

3. De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS);Karle;Neurology,2013

4. Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene;Battisti;J Neurol,2014

5. Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy;Lakshmanan;Neurol Genet,2017

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1. Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP;Orphanet Journal of Rare Diseases;2023-06-22

2. Clinical and genetic characterization of adult‐onset leukoencephalopathy caused by CSF1R mutations;Annals of Clinical and Translational Neurology;2021-10-15

3. Microglial dyshomeostasis drives perineuronal net and synaptic loss in a CSF1R +/− mouse model of ALSP, which can be rescued via CSF1R inhibitors;Science Advances;2021-08-27

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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