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
Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Progranulin deficiency in the brain: the interplay between neuronal and non-neuronal cells.
Gaweda-Walerych K et al.
Translational Neurodegeneration, 2025
Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration.
Shen T et al.
Molecular Neurodegeneration, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center.
Stefanova E et al.
Neurogenetics, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.
Benussi A et al.
Jama Network Open, 2021
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.
Carneiro F et al.
Parkinsonism & Related Disorders, 2020
Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.
Staffaroni AM et al.
Jama Network Open, 2020
Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency.
Frew J et al.
Molecular Neurodegeneration, 2020
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
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation.
Frew J et al.
Stem Cell Research, 2019
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency.
Evers BM et al.
Cell Reports, 2017
Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo.
Beel S et al.
Human Molecular Genetics, 2017
Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.
Hosokawa M et al.
Scientific Reports, 2017
A network of RNA and protein interactions in Fronto Temporal Dementia.
Fontana F et al.
Frontiers in Molecular Neuroscience, 2015
Early neuropsychological characteristics of progranulin mutation carriers.
Hallam BJ et al.
Journal of the International Neuropsychological Society : Jins, 2014
Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.
Lee WC et al.
Human Molecular Genetics, 2014
Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers.
Jacova C et al.
Neurology, 2013
White matter imaging helps dissociate tau from TDP-43 in frontotemporal lobar degeneration.
McMillan CT et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.
Nicholson AM et al.
Journal of Neurochemistry, 2013
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
Mechanisms of granulin deficiency: lessons from cellular and animal models.
Kleinberger G et al.
Molecular Neurobiology, 2013
TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways.
Chen-Plotkin AS et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012
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
rs5848 polymorphism and serum progranulin level.
Hsiung GY et al.
Journal of the Neurological Sciences, 2011
Progranulin promotes neurite outgrowth and neuronal differentiation by regulating GSK-3β.
Gao X et al.
Protein & Cell, 2010
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
Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients.
Schlachetzki JC et al.
Journal of Neurology, 2009
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
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.
Pickering-Brown SM et al.
Brain : a Journal of Neurology, 2008
Progranulin: normal function and role in neurodegeneration.
Eriksen JL et al.
Journal of Neurochemistry, 2008