Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and neurodegeneration and has an age of onset in the third decade of life or later. The genetic and molecular basis of the disease has remained...

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Autori principali: Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155175/
https://ncbi.nlm.nih.gov/pubmed/21820099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.07.003
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