Associated Papers
Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations.
Marian OC et al.
Acta Neuropathologica Communications, 2023
A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review.
Hosaka T et al.
Bmc Neurology, 2017
Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.
Giannoccaro MP et al.
Journal of Neurology, 2017
Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.
Hosokawa M et al.
Scientific Reports, 2017
Early neuropsychological characteristics of progranulin mutation carriers.
Hallam BJ et al.
Journal of the International Neuropsychological Society : Jins, 2014
A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.
Lashley T et al.
Neuropathology and Applied Neurobiology, 2014
Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers.
Jacova C et al.
Neurology, 2013
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.
van Blitterswijk M et al.
Neurology, 2013
TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.
Nicholson AM et al.
Journal of Neurochemistry, 2013
Progranulin axis and recent developments in frontotemporal lobar degeneration.
Nicholson AM et al.
Alzheimer's Research & Therapy, 2012
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Archives of Neurology, 2011
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Van Deerlin VM et al.
Nature Genetics, 2010
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 2010
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Mapping the progression of progranulin-associated frontotemporal lobar degeneration.
Rohrer JD et al.
Nature Clinical Practice. Neurology, 2008
Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene.
Rohrer JD et al.
Archives of Neurology, 2008
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.
Beck J et al.
Brain : a Journal of Neurology, 2008
Progranulin: normal function and role in neurodegeneration.
Eriksen JL et al.
Journal of Neurochemistry, 2008
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.
Mackenzie IR et al.
Neurogenetics, 2007
The genetics of frontotemporal lobar degeneration.
Rademakers R et al.
Current Neurology and Neuroscience Reports, 2007
Progranulin and frontotemporal lobar degeneration.
Pickering-Brown SM
Acta Neuropathologica, 2007
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.
Mackenzie IR et al.
Brain : a Journal of Neurology, 2006
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J et al.
Human Molecular Genetics, 2006
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Baker M et al.
Nature, 2006