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
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
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
Zhou Z et al.
Biorxiv : the Preprint Server for Biology, 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
Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.
Mol MO et al.
Alzheimer's Research & Therapy, 2022
Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.
Benussi A et al.
Jama Network Open, 2021
The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series.
Ulugut Erkoyun H et al.
Journal of Alzheimer's Disease : Jad, 2021
Microglial burden, activation and dystrophy patterns in frontotemporal lobar degeneration.
Woollacott IOC et al.
Journal of Neuroinflammation, 2020
Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity.
Valdez C et al.
Human Molecular Genetics, 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
FTLD-TDP With and Without GRN Mutations Cause Different Patterns of CA1 Pathology.
Mao Q et al.
Journal of Neuropathology and Experimental Neurology, 2019
Genetic screen in a large series of patients with primary progressive aphasia.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019
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
Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.
Hosokawa M et al.
Scientific Reports, 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
Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes.
Coyle-Gilchrist IT et al.
Neurology, 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
Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin.
McDade E et al.
Neurology, 2012
Progranulin axis and recent developments in frontotemporal lobar degeneration.
Nicholson AM et al.
Alzheimer's Research & Therapy, 2012
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 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
The heritability and genetics of frontotemporal lobar degeneration.
Rohrer JD et al.
Neurology, 2009
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.
Finch N et al.
Brain : a Journal of Neurology, 2009
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.
Beck J et al.
Brain : a Journal of Neurology, 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
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.
Mackenzie IR et al.
Brain : a Journal of Neurology, 2006
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J et al.
Human Molecular Genetics, 2006
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Baker M et al.
Nature, 2006
Novel progranulin mutation detected in 2 patients with FTLD.
Skoglund L et al.
Alzheimer Disease and Associated Disorders, 0