Enlarging the Nosological Spectrum of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids (HDLS)

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

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

The CSF-1 receptor ligands IL-34 and CSF-1 exhibit distinct developmental brain expression patterns and regulate neural progenitor cell maintenance and maturation

(2012) Sayan Nandi et al.   DEVELOPMENTAL BIOLOGY

Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation

(2012) Kirk Kleinfeld et al.   JOURNAL OF 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

Neuronal I B Kinase   Protects Mice from Autoimmune Encephalomyelitis by Mediating Neuroprotective and Immunosuppressive Effects in the Central Nervous System

(2009) M. Emmanouil et al.   JOURNAL OF IMMUNOLOGY

Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): A single entity?

(2009) C. Wider et al.   NEUROLOGY