Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family

BACKGROUND: In this paper, we describe the clinical and neuropathological findings of nine members of the Belgian progranulin gene (GRN) founder family. In this family, the loss-of-function mutation IVS1 + 5G > C was identified in 2006. In 2007, a clinical description of the mutation carriers was...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Alzheimers Res Ther
मुख्य लेखकों: Sieben, Anne, Van Mossevelde, Sara, Wauters, Eline, Engelborghs, Sebastiaan, van der Zee, Julie, Van Langenhove, Tim, Santens, Patrick, Praet, Marleen, Boon, Paul, Miatton, Marijke, Van Hoecke, Sofie, Vandenbulcke, Mathieu, Vandenberghe, Rik, Cras, Patrick, Cruts, Marc, De Deyn, Peter Paul, Van Broeckhoven, Christine, Martin, Jean-Jacques
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2018
विषय:
Research
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6389176/
https://ncbi.nlm.nih.gov/pubmed/29370838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13195-017-0334-y
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