Associated Papers
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J et al.
Orphanet Journal of Rare Diseases, 2023
Modeling CSF-1 receptor deficiency diseases - how close are we?
Chitu V et al.
The Febs Journal, 2022
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.
Turan S et al.
Jbmr Plus, 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
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Kındış E et al.
American Journal of Medical Genetics. Part A, 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 Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration.
Tamhankar PM et al.
Neuropediatrics, 2020
Phenotypic impacts of CSF1R deficiencies in humans and model organisms.
Hume DA et al.
Journal of Leukocyte Biology, 2020
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Oosterhof N et al.
American Journal of Human Genetics, 2019
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