Associated Papers
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.
Chu M et al.
Journal of Alzheimer's Disease : Jad, 2023
Clinical impact of whole-genome sequencing in patients with early-onset dementia.
Huq AJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases.
Chang A et al.
Cell, 2022
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.
Moore KM et al.
The Lancet. Neurology, 2020
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
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 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