Autophagic vacuolar myopathy is a common feature of CLN3 disease

OBJECTIVE: The neuronal ceroid lipofuscinoses (NCL) are genetic degenerative disorders of brain and retina. NCL with juvenile onset (JNCL) is genetically heterogeneous but most frequently caused by mutations of CLN3. Classical juvenile CLN3 includes a rare protracted form, which has previously been...

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Vydáno v:Ann Clin Transl Neurol
Hlavní autoři: Radke, Josefine, Koll, Randi, Gill, Esther, Wiese, Lars, Schulz, Angela, Kohlschütter, Alfried, Schuelke, Markus, Hagel, Christian, Stenzel, Werner, Goebel, Hans H.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
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Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6243389/
https://ncbi.nlm.nih.gov/pubmed/30480032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.662
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