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
41240362 (PubMed )
Supplement: awaf423_supplementary_data.zip › brain-2025-01866-File011.xlsx › Supplementary_table_2
Frontotemporal dementia as a consequence of GRN mutations: From disease cause to models to therapies.
Salzano S et al.
Pharmacological Research, 2025
Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
A novel c.1468 G > A GRN mutation causes frontotemporal dementia in a Chinese Han family.
Xia M et al.
European Journal of Medical Research, 2025
Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.
De Houwer JFH et al.
Journal of Neurology, 2024
Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.
Huin V et al.
Brain : a Journal of Neurology, 2021
Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology.
Zhou X et al.
Advances in Experimental Medicine and Biology, 2021
Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.
Sellami L et al.
Neurobiology of Aging, 2020
Translational Control of Secretory Proteins in Health and Disease.
Karamyshev AL et al.
International Journal of Molecular Sciences, 2020
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.
Saracino D et al.
Neurobiology of Aging, 2020
Pathogenic Signal Sequence Mutations in Progranulin Disrupt SRP Interactions Required for mRNA Stability.
Pinarbasi ES et al.
Cell Reports, 2018
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
Le Ber I et al.
Brain : a Journal of Neurology, 2008
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