Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Neuronal ceroid lipofuscinoses (NCLs) comprise a heterogeneous group of metabolic storage diseases that present with the accumulation of autofluorescent lipopigment, neurodegeneration and premature death. Nine genes have been thus far identified as the cause of different types of NCL, with ages at o...

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Detalles Bibliográficos
Autores principales: Bras, Jose, Verloes, Alain, Schneider, Susanne A., Mole, Sara E., Guerreiro, Rita J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3363329/
https://www.ncbi.nlm.nih.gov/pubmed/22388936
http://dx.doi.org/10.1093/hmg/dds089

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3363329/
https://www.ncbi.nlm.nih.gov/pubmed/22388936
http://dx.doi.org/10.1093/hmg/dds089

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