Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics

Hereditary diffuse leukoencephalopathy with spheroids - a volumetric and radiological comparison with multiple sclerosis patients and healthy controls

(2016) T. Granberg et al.   EUROPEAN JOURNAL OF NEUROLOGY

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

(2015) David S Lynch et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement

(2015) Peter Körtvelyessy et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

(2015) Nicola Foulds et al.   Scientific Reports

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

(2014) C. Sundal et al.   EUROPEAN JOURNAL OF NEUROLOGY

Corpus Callosum Atrophy in Patients with Hereditary Diffuse Leukoencephalopathy with Neuroaxonal Spheroids: An MRI-based Study

(2014) Michiaki Kinoshita et al.   INTERNAL 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

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

Hereditäre diffuse Leukenzephalopathie mit Sphäroiden

(2014) M. Schuberth et al.   NERVENARZT

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

(2014) Roberta La Piana et al.   NEUROGENETICS

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

An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications

(2013) Shinsuke Fujioka et al.   JOURNAL OF NEUROLOGY

Increasing and persistent DWI changes in a patient with Hereditary Diffuse Leukoencephalopathy with Spheroids

(2013) Yuka Terasawa 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

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

(2013) T. Konno et al.   NEUROLOGY

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

(2013) Christina Sundal et al.   PARKINSONISM & RELATED DISORDERS

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

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

Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions

(2011) Elena Martinez-Saez et al.   NEUROPATHOLOGY

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

(2009) C. Wider et al.   NEUROLOGY

Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations

(2008) Stefanie H. Freeman et al.   BRAIN PATHOLOGY

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

(2008) J. A. Van Gerpen et al.   NEUROLOGY