Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.R782G
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CSF1R

NM_001288705.3:p.R782G

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

Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.

Ishiguro T et al.

European Journal of Neurology, 2023

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

Chitu V et al.

The Febs Journal, 2022

Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical phenotypes.

Rosenstein I et al.

Acta Neurologica Scandinavica, 2022

Novel CSF1R variant in adult-onset leukoencephalopathy masquerading as frontotemporal dementia: a follow-up study.

Arshad F et al.

Neurocase, 2021

Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations.

Tsai PC et al.

Annals of Clinical and Translational Neurology, 2021

Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.

Hu B et al.

Frontiers in Aging Neuroscience, 2021

34867307 (PubMed )
Supplement: Table_1.pdf

Recent Advances in Basic Research for CSF1R-Microglial Encephalopathy.

Wang YL et al.

Frontiers in Aging Neuroscience, 2021

A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids.

Yang X et al.

Frontiers in Genetics, 2019

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

MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation.

Abe T et al.

Magnetic Resonance in Medical Sciences : Mrms : an Official Journal of Japan Society of Magnetic Resonance in Medicine, 2017

CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification.

Daida K et al.

Internal Medicine (tokyo, Japan), 2017

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

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.

Foulds N et al.

Scientific Reports, 2015

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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."