Prominent Phenotypic Variability Associated with Mutations in Progranulin

Mutations in progranulin (PGRN) are associated with frontotemporal dementia with or without parkinsonism. We describe the prominent phenotypic variability within and among eight kindreds evaluated at Mayo Clinic Rochester and/or Mayo Clinic Jacksonville in whom mutations in PGRN were found. All avai...

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Autori principali: Kelley, Brendan J., Haidar, Wael, Boeve, Bradley F., Baker, Matt, Graff-Radford, Neill R., Krefft, Thomas, Frank, Andrew R., Jack, Clifford R., Shiung, Maria, Knopman, David S., Josephs, Keith A., Parashos, Sotirios A., Rademakers, Rosa, Hutton, Mike, Pickering-Brown, Stuart, Adamson, Jennifer, Kuntz, Karen M., Dickson, Dennis W., Parisi, Joseph E., Smith, Glenn E., Ivnik, Robert J., Petersen, Ronald C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2007
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3164546/
https://ncbi.nlm.nih.gov/pubmed/17949857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2007.08.022
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