Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.A652P
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CSF1R

NM_001288705.3:p.A652P

Associated Papers

Movement Disorders in CSF1R -Related Leukoencephalopathy: A Case Series.

Kamble N et al.

Annals of Indian Academy of Neurology, 2025

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

Chitu V et al.

The Febs Journal, 2022

From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.

Guo L et al.

Journal of Human Genetics, 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

Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.

Papapetropoulos S et al.

Frontiers in Neurology, 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

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

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

Daida K et al.

Internal Medicine (tokyo, Japan), 2017

Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

Konno T et al.

Ajnr. American Journal of Neuroradiology, 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

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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."