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...

全面介紹

Na minha lista:
書目詳細資料
發表在:Alzheimers Res Ther
Main Authors: 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
格式: Artigo
語言:Inglês
出版: BioMed Central 2018
主題:
Research
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍