Associated Papers
Novel and rare variants in amyotrophic lateral sclerosis genes identified in Malaysian patients.
Zulhairy-Liong NA et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
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
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
Libonati L et al.
Journal of Neurology, 2024
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.
Kolesnikova M et al.
Investigative Ophthalmology & Visual Science, 2023
Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.
Bartoletti-Stella A et al.
Neurobiology of Aging, 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
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2018
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation.
Terlizzi R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases.
Bit-Ivan EN et al.
Journal of Neuropathology and Experimental Neurology, 2014
Progranulin mutations as risk factors for Alzheimer disease.
Perry DC et al.
Jama Neurology, 2013
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Archives of Neurology, 2011
A thorough assessment of benign genetic variability in GRN and MAPT.
Guerreiro RJ et al.
Human Mutation, 2010
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Acta Neuropathologica, 2010
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
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
Le Ber I et al.
Brain : a Journal of Neurology, 2008
Progranulin: normal function and role in neurodegeneration.
Eriksen JL et al.
Journal of Neurochemistry, 2008
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.
Mackenzie IR et al.
Neurogenetics, 2007
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J et al.
Human Molecular Genetics, 2006
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
Cruts M et al.
Nature, 2006
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Baker M et al.
Nature, 2006