Prominent phenotypic variability associated with mutations in Progranulin
- 18 October 2007
- journal article
- Published by Elsevier in Neurobiology of Aging
- Vol. 30 (5) , 739-751
- https://doi.org/10.1016/j.neurobiolaging.2007.08.022
Abstract
No abstract availableKeywords
This publication has 53 references indexed in Scilit:
- Voxel-Based Morphometry in Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With and Without Progranulin MutationsArchives of Neurology, 2007
- Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutationJournal Of Neural Transmission-Parkinsons Disease and Dementia Section, 2007
- Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral SclerosisScience, 2006
- The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin geneBrain, 2006
- Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic studyBrain, 2006
- Novel splicing mutation in the progranulin gene causing familial corticobasal syndromeBrain, 2006
- Characteristics of frontotemporal dementia patients with a Progranulin mutationAnnals of Neurology, 2006
- HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of progranulinAnnals of Neurology, 2006
- Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Nature, 2006
- Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementiaNature Genetics, 2005