A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids-Reference-Cited by-同舟云学术

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids

Published:2015-07-24 Issue:2 Volume:47 Page:319-322
ISSN:1387-2877
Container-title:Journal of Alzheimer's Disease
language:
Short-container-title:JAD

Author:

Di Donato Ilaria¹,Stabile Carmen¹,Bianchi Silvia¹,Taglia Ilaria¹,Mignarri Andrea¹,Salvatore Simona¹,Giorgio Elisa²,Brusco Alfredo²,Simone Isabella³,Dotti Maria Teresa¹,Federico Antonio¹

Affiliation:

1. Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy

2. Department of Medical Sciences, University of Turin, Turin, Italy

3. Neurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organ, University of Bari, Bari, Italy

Publisher

IOS Press

Subject

Psychiatry and Mental health,Geriatrics and Gerontology,Clinical Psychology,General Medicine,General Neuroscience

Reference16 articles.

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2. Hereditary diffuse leukoencephalopathy with spheroids: Clinical, pathologic and genetic studies of a new kindred;Baba;Acta Neuropathol,2006

3. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids;Van Gerpen;Neurology,2008

4. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids;Rademakers;Nat Genet,2011

5. Hereditary diffuseleukoencephalopathy with axonal spheroids: Three patients withstroke-like presentation carrying new mutations in the CSF1R gene;Battisti;J Neurol,2014

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