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...

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Autori principali: Ahmed, Rebekah, Guerreiro, Rita, Rohrer, Jonathan D., Guven, Gamze, Rossor, Martin N., Hardy, John, Fox, Nick C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2013
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Short Communication
Accesso online: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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