Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

OBJECTIVE: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery. METHODS: Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring center...

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Vydáno v:Neurology
Hlavní autoři: Berkovic, Samuel F., Staropoli, John F., Carpenter, Stirling, Oliver, Karen L., Kmoch, Stanislav, Anderson, Glenn W., Damiano, John A., Hildebrand, Michael S., Sims, Katherine B., Cotman, Susan L., Bahlo, Melanie, Smith, Katherine R., Cadieux-Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E.
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4977374/
https://ncbi.nlm.nih.gov/pubmed/27412140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002943
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