Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.G585Splc
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CSF1R

NM_001288705.3:p.G585Splc

Associated Papers

CSF1R-related disorder: A clinical, imaging and genetic profile review.

Mahale RR et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Potential use of glucocorticosteroids in CSF1R mutation carriers - current evidence and future directions.

Dulski J et al.

Neurologia I Neurochirurgia Polska, 2023

Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes.

Dulski J et al.

Pharmaceutics, 2022

Modeling CSF-1 receptor deficiency diseases - how close are we?

Chitu V et al.

The Febs Journal, 2022

Pathogenicity analysis and a novel case report of intronic mutations in CSF1R gene.

Shixing X et al.

Neurocase, 2022

Recent Advances in Basic Research for CSF1R-Microglial Encephalopathy.

Wang YL et al.

Frontiers in Aging Neuroscience, 2021

Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review.

Zhuang LP et al.

Annals of Translational Medicine, 2020

Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy.

Tian WT et al.

Translational Neurodegeneration, 2019

CSF1R-related leukoencephalopathy: A major player in primary microgliopathies.

Konno T et al.

Neurology, 2018

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).

Adams SJ et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

Konno T et al.

European Journal of Neurology, 2017

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

Rademakers R et al.

Nature Genetics, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."