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
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
Detection of TDP-43 seeding activity in the olfactory mucosa from patients with frontotemporal dementia.
Fontana E et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
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
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
Early-onset phenotype of bi-allelic GRN mutations.
Neuray C et al.
Brain : a Journal of Neurology, 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
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
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C et al.
The Lancet. Neurology, 2018
Impaired protein degradation in FTLD and related disorders.
Götzl JK et al.
Ageing Research Reviews, 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
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C et al.
Journal of Neurology, 2015
Recent advances in the molecular genetics of epilepsy.
Hildebrand MS et al.
Journal of Medical Genetics, 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