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
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
Progranulin and GPNMB: interactions in endo-lysosome function and inflammation in neurodegenerative disease.
Gillett DA et al.
Journal of Neuroinflammation, 2023
TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP.
Arseni D et al.
Nature, 2023
Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.
Davis SE et al.
Acta Neuropathologica Communications, 2023
Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations.
Marsan E et al.
The Journal of Clinical Investigation, 2023
A case of familial frontotemporal dementia caused by a progranulin gene mutation.
Currens L et al.
Clinical Parkinsonism & Related Disorders, 2023
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.
Mesaros M et al.
Genes, 2021
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
A molecular pathology, neurobiology, biochemical, genetic and neuroimaging study of progressive apraxia of speech.
Josephs KA et al.
Nature Communications, 2021
Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.
Benussi A et al.
Jama Network Open, 2021
Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations.
Boeve BF et al.
Advances in Experimental Medicine and Biology, 2021
Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations.
Licata A 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
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.
Hosokawa M et al.
Scientific Reports, 2017
A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.
Sassi C et al.
Journal of Alzheimer's Disease : Jad, 2016
Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.
Tacik P et al.
Neuro-degenerative Diseases, 2016
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Pottier C et al.
Acta Neuropathologica, 2015
Progressive supranuclear palsy in a family with TDP-43 pathology.
Kertesz A et al.
Neurocase, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Archives of Neurology, 2011
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Van Deerlin VM et al.
Nature Genetics, 2010
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 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
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.
Pickering-Brown SM 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
The genetics of frontotemporal lobar degeneration.
Rademakers R et al.
Current Neurology and Neuroscience Reports, 2007
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.
Leverenz JB et al.
Brain : a Journal of Neurology, 2007