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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Ahmed, Rebekah, Guerreiro, Rita, Rohrer, Jonathan D., Guven, Gamze, Rossor, Martin N., Hardy, John, Fox, Nick C.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2013
Teme:
Short Communication
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items