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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Библиографические подробности
Опубликовано в: :Ann Clin Transl Neurol
Главные авторы: Radke, Josefine, Koll, Randi, Gill, Esther, Wiese, Lars, Schulz, Angela, Kohlschütter, Alfried, Schuelke, Markus, Hagel, Christian, Stenzel, Werner, Goebel, Hans H.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2018
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Research Articles
Online-ссылка: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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