A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

Mutations in the progranulin gene (GRN) are a major cause of frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions (FTLD-U) but the distinguishing clinical and anatomical features of this subgroup remain unclear. In a large UK cohort we found five different frameshift an...

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Detalhes bibliográficos
Main Authors: Beck, Jonathan, Rohrer, Jonathan D., Campbell, Tracy, Isaacs, Adrian, Morrison, Karen E., Goodall, Emily F., Warrington, Elizabeth K., Stevens, John, Revesz, Tamas, Holton, Janice, Al-Sarraj, Safa, King, Andrew, Scahill, Rachael, Warren, Jason D., Fox, Nick C., Rossor, Martin N., Collinge, John, Mead, Simon
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2577762/
https://ncbi.nlm.nih.gov/pubmed/18234697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awm320
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