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

A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis

(2013) Toshio Inui et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis

(2013) Ban-yu Saitoh et al.   Multiple Sclerosis Journal

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

(2013) K. N. Karle et al.   NEUROLOGY

Genetic Analysis of Inherited Leukodystrophies

(2013) Rita Guerreiro et al.   JAMA Neurology

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

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

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Macrophage colony-stimulating factor induces the proliferation and survival of macrophages via a pathway involving DAP12 and β-catenin

(2009) Karel Otero et al.   NATURE IMMUNOLOGY