Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD

OBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia...

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Publicat a:Neurol Genet
Autors principals: van der Zee, Julie, Mariën, Peter, Crols, Roeland, Van Mossevelde, Sara, Dillen, Lubina, Perrone, Federica, Engelborghs, Sebastiaan, Verhoeven, Jo, D'aes, Tine, Ceuterick-De Groote, Chantal, Sieben, Anne, Versijpt, Jan, Cras, Patrick, Martin, Jean-Jacques, Van Broeckhoven, Christine
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5027801/
https://ncbi.nlm.nih.gov/pubmed/27668283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000102
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