Hereditäre diffuse Leukenzephalopathie mit Sphäroiden

Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R

(2013) Yasufumi Kondo et al.   INTERNAL MEDICINE

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

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

(2013) T. Konno et al.   NEUROLOGY

A clinicopathological and genetic study of sporadic diffuse leukoencephalopathy with spheroids: a report of two cases

(2013) T. Kimura et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

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

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

(2012) C. Sundal et al.   NEUROLOGY

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

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

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS