Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis : A rare disorder with neurologic regression and skeletal features

A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration

(2020) Parag Mohan Tamhankar et al.   NEUROPEDIATRICS

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

(2019) Long Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

(2019) Nynke Oosterhof et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic impacts of CSF1R deficiencies in humans and model organisms

(2019) David A. Hume et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Nosology and classification of genetic skeletal disorders: 2019 revision

(2019) Geert R. Mortier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CSF1R-related leukoencephalopathy

(2018) Takuya Konno et al.   NEUROLOGY

HERC1 mutations in idiopathic intellectual disability

(2017) G. Eda Utine et al.   European Journal of Medical Genetics

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

(2017) Dorota Monies et al.   GENETICS IN MEDICINE

Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

(2016) Pelin O. Simsek Kiper et al.   NEW ENGLAND JOURNAL OF MEDICINE

Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)

(2014) Benjamin Bender et al.   JOURNAL OF NEUROLOGY

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

(2014) Roberta La Piana et al.   NEUROGENETICS

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function

(2013) Clare Pridans et al.   Scientific Reports

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

(2011) Rosa Rademakers et al.   NATURE GENETICS

Absence of Colony Stimulation Factor-1 Receptor Results in Loss of Microglia, Disrupted Brain Development and Olfactory Deficits

(2011) Bryna Erblich et al.   PLoS One

Dysosteosclerosis presents as an “Osteoclast-Poor” form of osteopetrosis: Comprehensive investigation of a 3-year-old girl and literature review

(2010) Michael P Whyte et al.   JOURNAL OF BONE AND MINERAL RESEARCH

M-CSF inhibition selectively targets pathological angiogenesis and lymphangiogenesis

(2009) Yoshiaki Kubota et al.   JOURNAL OF EXPERIMENTAL MEDICINE