Associated Papers
Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo.
Porta S et al.
Nature Communications, 2018
30310141 (PubMed )
Supplement: 41467_2018_6548_MOESM1_ESM.pdf
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.
Irwin DJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
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
20154673 (PubMed )
Supplement: NIHMS172758-supplement-1.pdf
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 2010
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Acta Neuropathologica, 2010
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Human Molecular Genetics, 2008
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