Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated withCSF1Rmutation

Clinicopathologic and Genetic Studies of 2 Patients With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

(2016) Min-Yu Lan et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids

(2015) Marie Meyer-Ohlendorf et al.   BMC 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

Phenotypic characterization of a Csf1r haploinsufficient mouse model of adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP)

(2015) Violeta Chitu et al.   NEUROBIOLOGY OF DISEASE

Clinical evolution, neuroimaging, and volumetric analysis of a patient with a CSF1R mutation who presented with progressive nonfluent aphasia

(2015) Dokyung Lee et al.   PARKINSONISM & RELATED DISORDERS

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

(2015) Nicola Foulds et al.   Scientific Reports

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

(2015) John L. Robinson et al.   Acta Neuropathologica Communications

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

(2014) Sarah Hoffmann et al.   BRAIN PATHOLOGY

Diffuse leukoencephalopathy with spheroids: Biopsy findings and a novel mutation

(2014) Johannes Levin et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

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

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

Hereditary Diffuse Leukoencephalopathy with Spheroids Characterized by Spastic Hemiplegia Preceding Mental Impairment

(2014) Fukiko Kitani-Morii et al.   INTERNAL MEDICINE

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

A practical approach to diagnosing adult onset leukodystrophies

(2013) R. M. Ahmed et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

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

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

(2013) Yuka Terasawa 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

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

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

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

KIDs rule: regulatory phosphorylation of RTKs

(2013) Lauren E. Locascio et al.   TRENDS IN BIOCHEMICAL SCIENCES

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

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

(2011) Rosa Rademakers et al.   NATURE GENETICS