A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids()

We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter ch...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ahmed, Rebekah, Guerreiro, Rita, Rohrer, Jonathan D., Guven, Gamze, Rossor, Martin N., Hardy, John, Fox, Nick C.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2013
Pynciau:
Short Communication
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3750216/
https://ncbi.nlm.nih.gov/pubmed/23816250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2013.06.007
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