C19orf12 mutation leads to Karak pallido-pyramidal syndrome

Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11. In particular, mutations in PLA2G6...

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Detalhes bibliográficos
Publicado no:Gene
Main Authors: Kruer, Michael C., Salih, Mustafa A., Mooney, Catherine, Alzahrani, Jawahir, Elmalik, Salah A., Kabiraj, Mohammad M., Khan, Arif O., Paudel, Reema, Houlden, Henry, Azzedine, Hamid, Alkuraya, Fowzan
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4422067/
https://ncbi.nlm.nih.gov/pubmed/24361204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2013.11.039
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