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CSF1R mutations link POLD and HDLS as a single disease entity
Alexandra M. Nicholson
, Matt C. Baker
, Ni Cole A. Finch
, Nicola J. Rutherford
, Christian Wider
, Neill R. Graff-Radford
, Peter T. Nelson
, H. Brent Clark
, Zbigniew K. Wszolek
, Dennis W. Dickson
, David S. Knopman
, Rosa Rademakers
Laboratory Medicine and Pathology
Research output
:
Contribution to journal
›
Article
›
peer-review
150
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Scopus citations
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Dive into the research topics of 'CSF1R mutations link POLD and HDLS as a single disease entity'. Together they form a unique fingerprint.
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Keyphrases
Receptor mutations
100%
Disease Entity
100%
Single Disease
100%
Hereditary Diffuse Leukoencephalopathy with Spheroids
100%
Pigmented Orthochromatic Leukodystrophy
100%
Colony-stimulating Factor 1 Receptor (CSF1R)
100%
Cerebral White Matter
10%
Clinical Features
10%
Functional Analysis
10%
White Matter Abnormalities
10%
Functional Characterization
10%
Biopsy-proven
10%
Autophosphorylation
10%
Large Families
10%
Kinase Domain
10%
Brain Samples
10%
Tyrosine Residue
10%
Axonal Swelling
10%
Myelin Loss
10%
Immunohistochemical Examination
10%
Mechanistic Evidence
10%
Neurodegenerative Disorders
10%
Previously Diagnosed
10%
Pathologic Features
10%
Unaffected Family Members
10%
Genetic Evidence
10%
Shared Pathogenesis
10%
Neuroscience
Colony Stimulating Factor 1 Receptor
100%
Leukodystrophy
100%
Leukoencephalopathy
100%
Genetics
20%
Neurodegenerative Disorder
10%
Kinase
10%
Myelin
10%
Tyrosine
10%
In Vitro
10%
Receptor Gene
10%
Nerve Fiber Degeneration
10%
Immunology and Microbiology
Tumor Spheroid
100%
Colony Stimulating Factor 1 Receptor
100%
Wild Type
20%
White Matter
10%
Autophosphorylation
10%
Receptor Gene
10%
Nerve Fiber Degeneration
10%
Myelin
10%
Tyrosine
10%
In Vitro
10%
Kinase
10%
Phosphotransferase
10%
Biochemistry, Genetics and Molecular Biology
Tumor Spheroid
100%
Colony Stimulating Factor 1 Receptor
100%
Genetics
20%
Wild Type
20%
Tyrosine
10%
Receptor Gene
10%
Autophosphorylation
10%
Nerve Fiber Degeneration
10%
Phosphotransferase
10%
Kinase
10%
Myelin
10%