Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology.
Zhou X et al.
Advances in Experimental Medicine and Biology, 2021
CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia.
Rendina A et al.
Journal of Neuropathology and Experimental Neurology, 2020
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration.
Luzzi S et al.
Neurobiology of Aging, 2017
Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin.
Kleinberger G et al.
Neurobiology of Aging, 2016
Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.
Karch CM et al.
Neurobiology of Aging, 2016
A network of RNA and protein interactions in Fronto Temporal Dementia.
Fontana F et al.
Frontiers in Molecular Neuroscience, 2015
Mechanisms of granulin deficiency: lessons from cellular and animal models.
Kleinberger G et al.
Molecular Neurobiology, 2013
DLB and PDD: a role for mutations in dementia and Parkinson disease genes?
Meeus B et al.
Neurobiology of Aging, 2012
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 2010
Cortical atrophy and language network reorganization associated with a novel progranulin mutation.
Cruchaga C et al.
Cerebral Cortex (new York, N.y. : 1991), 2009
Recent insights into the molecular genetics of dementia.
Rademakers R et al.
Trends in Neurosciences, 2009
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J et al.
Human Molecular Genetics, 2006