Associated Papers
Generation of Induced Pluripotent Stem Cells and Neuroepithelial Stem Cells from a Family with the Pathogenic Variant p.Q337X in Progranulin.
Gaweda-Walerych K et al.
International Journal of Molecular Sciences, 2025
Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration.
Shen T et al.
Molecular Neurodegeneration, 2025
Progression to corticobasal syndrome: a longitudinal study of patients with nonfluent primary progressive aphasia and primary progressive apraxia of speech.
Garcia-Guaqueta DP et al.
Journal of Neurology, 2024
Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency.
Gaweda-Walerych K et al.
Frontiers in Molecular Neuroscience, 2021
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
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
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
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Acta Neuropathologica, 2010
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies.
Neumann M et al.
Acta Neuropathologica, 2009
Clinical and pathological continuum of multisystem TDP-43 proteinopathies.
Geser F et al.
Archives of Neurology, 2009
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Human Molecular Genetics, 2008