Associated Papers
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients.
Ganoza CA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
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
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
Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA-CESNE Cohort.
Bonato G et al.
Movement Disorders Clinical Practice, 2025
Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.
Bonato G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
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 progranulin gene deletion in frontotemporal lobar degeneration with corticobasal syndrome in a TREDEM case report.
Gallucci M et al.
Journal of Alzheimer's Disease Reports, 2024
Progranulin and GPNMB: interactions in endo-lysosome function and inflammation in neurodegenerative disease.
Gillett DA et al.
Journal of Neuroinflammation, 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
Clinical Characterization of Atypical Primary Progressive Aphasia in a 3-Year Longitudinal Study: A Case Report.
Basilico S et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 2021
Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis.
Root J et al.
Neurobiology of Disease, 2021
Two heterozygous progranulin mutations in progressive supranuclear palsy.
Yang W et al.
Brain : a Journal of Neurology, 2021
Reply: Early-onset phenotype of bi-allelic GRN mutations.
Huin V et al.
Brain : a Journal of Neurology, 2021
Early-onset phenotype of bi-allelic GRN mutations.
Neuray C et al.
Brain : a Journal of Neurology, 2021
Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2021
Clinical and radiological features of posterior cortical atrophy (PCA) in a GRN mutation carrier: a case report.
Giunta M et al.
European 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
Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.
Vieira SRL et al.
Frontiers in Neurology, 2021
The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.
Isik E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.
Mega A et al.
Alzheimer's Research & Therapy, 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
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V et al.
Brain : a Journal of Neurology, 2020
Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Bonvicini C et al.
Journal of Alzheimer's Disease : Jad, 2019
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2018
Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation.
Papegaey A et al.
Acta Neuropathologica Communications, 2016
Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation.
Almeida MR et al.
Neurobiology of Aging, 2016
Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.
Bocchetta M et al.
Journal of Alzheimer's Disease : Jad, 2016
Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice.
Hosokawa M et al.
Journal of Neuropathology and Experimental Neurology, 2015
Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation.
Canafoglia L et al.
Epilepsia, 2014
Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis.
Götzl JK et al.
Acta Neuropathologica, 2014
TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.
Nicholson AM et al.
Journal of Neurochemistry, 2013
Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration.
Cenik B et al.
The Journal of Biological Chemistry, 2012
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Smith KR et al.
American Journal of Human Genetics, 2012
Progranulin axis and recent developments in frontotemporal lobar degeneration.
Nicholson AM et al.
Alzheimer's Research & Therapy, 2012
Progranulin genetic screening in frontotemporal lobar degeneration patients from central Italy.
Bagnoli S et al.
Cellular and Molecular Neurobiology, 2012
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Archives of Neurology, 2011
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 2010
Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease.
Carecchio M et al.
Journal of the Neurological Sciences, 2009
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.
Benussi L et al.
Neurobiology of Disease, 2009
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.
Mackenzie IR et al.
Neurogenetics, 2007
Corticobasal syndrome associated with the A9D Progranulin mutation.
Spina S et al.
Journal of Neuropathology and Experimental Neurology, 2007
The genetics of frontotemporal lobar degeneration.
Rademakers R et al.
Current Neurology and Neuroscience Reports, 2007
PGRN mutations in northern Italy.
Borroni B et al.
Alzheimer Disease and Associated Disorders, 0
Higher than expected progranulin mutation rate in a case series of Italian FTLD patients.
Tremolizzo L et al.
Alzheimer Disease and Associated Disorders, 0
Primary Progressive Aphasia: Natural History in an Italian Cohort.
Ferrari C et al.
Alzheimer Disease and Associated Disorders, 0