Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy-Reference-Cited by-同舟云学术

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Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy

Published:2019-10-15 Issue:2 Volume:27 Page:369-375
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Kondo Y.¹²^ORCID,Matsushima A.³,Nagasaki S.¹,Nakamura K.¹⁴,Sekijima Y.¹,Yoshida K.⁵

Affiliation:

1. Department of Medicine (Neurology and Rheumatology) Shinshu University School of Medicine MatsumotoJapan

2. Department of Neurology Nagano Municipal Hospital Nagano Japan

3. Department of Neurology JA Nagano Koseiren Kakeyu‐Misayama Rehabilitation Center Kakeyu Hospital Ueda Japan

4. Center for Medical Genetics Shinshu University Hospital Matsumoto Japan

5. Department of Brain Disease Research Shinshu University School of Medicine Matsumoto Japan

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14086

Reference13 articles.

1. CSF1R mutations link POLD and HDLS as a single disease entity

2. Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): A single entity?

3. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

4. Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

5. Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy

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1. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Estimation of pathological lesion stage from brain images;Journal of the Neurological Sciences;2024-06

2. 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

3. Pearls & Oy-sters: CSF1R -Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis;Neurology;2023-09-12

4. Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R‐related leukoencephalopathy;European Journal of Neurology;2023-03-30

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

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