Associated Papers
The genetic architecture of primary lateral sclerosis in a cohort of Italian patients.
Schito P et al.
Journal of Neurology, 2025
Frontotemporal dementia as a consequence of GRN mutations: From disease cause to models to therapies.
Salzano S et al.
Pharmacological Research, 2025
The first report of ceroid lipofuscinosis type 11 in China: a novel mutation of GRN and updated clinical review.
Shi D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA-CESNE Cohort.
Bonato G et al.
Movement Disorders Clinical Practice, 2025
A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy.
Kennedy JC et al.
Med (new York, N.y.), 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 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
A new GRN variant in logopenic variant primary progressive aphasia: a case report and literature review.
Jia SS et al.
Neurocase, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to C9orf72 Repeat Expansions.
Longobardi A et al.
International Journal of Molecular Sciences, 2024
Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort.
Ghirelli A et al.
Journal of Neurology, 2024
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Swift IJ et al.
Alzheimer's Research & Therapy, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature.
Sürücü Kara İ et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024
Progranulin and GPNMB: interactions in endo-lysosome function and inflammation in neurodegenerative disease.
Gillett DA et al.
Journal of Neuroinflammation, 2023
A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.
Salemi M et al.
Biomedicines, 2023
Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia-clinical features and neuroimaging correlates.
Ghirelli A et al.
Journal of Neurology, 2023
Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations.
Kashyap SN et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2023
Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.
Chu M et al.
Journal of Alzheimer's Disease : Jad, 2023
Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.
Bruno F et al.
Biomedicines, 2022
The natural history of primary progressive aphasia: beyond aphasia.
Ulugut H et al.
Journal of Neurology, 2022
Hyper-religiosity and visual hallucinations in a patient with frontotemporal dementia carrying a double variant in GRN gene.
Morelli M et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
Plasma Small Extracellular Vesicles with Complement Alterations in GRN/C9orf72 and Sporadic Frontotemporal Lobar Degeneration.
Bellini S et al.
Cells, 2022
A comprehensive analysis of copy number variation in a Turkish dementia cohort.
Dehghani N et al.
Human Genomics, 2021
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.
Sassi C et al.
Scientific Reports, 2021
Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.
Bartoletti-Stella A et al.
Neurobiology of Aging, 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
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Koriath C et al.
Molecular Psychiatry, 2020
NEK1 and GRN mutations coexist in a sporadic Chinese Hui descent ALS patient.
Zhang K et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia.
Guven G et al.
Journal of Alzheimer's Disease : Jad, 2019
Monozygotic Twins with Frontotemporal Dementia Due To Thr272fs GRN Mutation Discordant for Age At Onset.
Fumagalli GG et al.
Journal of Alzheimer's Disease : Jad, 2019
Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders.
Chang KH et al.
Parkinsonism & Related Disorders, 2018
Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay.
Nguyen AD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg.
Redaelli V et al.
Brain Pathology (zurich, Switzerland), 2018
Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration.
Piaceri I et al.
Journal of Alzheimer's Disease : Jad, 2018
Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.
Steele NZ et al.
Advances in Genomics and Genetics, 2018
Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease.
Chitramuthu BP et al.
Brain : a Journal of Neurology, 2017
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
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017