Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases

(2015) Eun-Joo Kim et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene

(2014) Carla Battisti 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

Colony-Stimulating Factor 1 Receptor Signaling Is Necessary for Microglia Viability, Unmasking a Microglia Progenitor Cell in the Adult Brain

(2014) Monica R.P. Elmore et al.   NEURON

A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank

(2013) Jon B. Toledo et al.   Alzheimers & Dementia

M-CSF receptor mutations in hereditary diffuse leukoencephalopathy with spheroids impair not only kinase activity but also surface expression

(2013) Masateru Hiyoshi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids

(2013) Rebekah Ahmed et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)

(2013) K. N. Karle et al.   NEUROLOGY

CSF1R mutations link POLD and HDLS as a single disease entity

(2013) A. M. Nicholson et al.   NEUROLOGY

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS

(2013) T. Konno et al.   NEUROLOGY

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

(2013) Clare Pridans et al.   Scientific Reports

Genetic Analysis of Inherited Leukodystrophies

(2013) Rita Guerreiro et al.   JAMA Neurology

CSF1Rmutations identified in three families with autosomal dominantly inherited leukoencephalopathy

(2012) Jun Mitsui et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: Case report

(2012) Michiaki Kinoshita et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Neuropathology of Frontotemporal Lobar Degeneration-Tau (FTLD-Tau)

(2011) Dennis W. Dickson et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

(2011) Christina Sundal et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2011) Rosa Rademakers et al.   NATURE GENETICS