Associated Papers
CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology.
Dulski J et al.
Parkinsonism & Related Disorders, 2024
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
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
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
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM10_ESM.xlsx › Sheet1
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Guo L et al.
American Journal of Human Genetics, 2019
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