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
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing.
Bampton A et al.
Acta Neuropathologica, 2021
In vivo PET imaging of neuroinflammation in familial frontotemporal dementia.
Malpetti M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.
Benussi A et al.
Jama Network Open, 2021
Microglial burden, activation and dystrophy patterns in frontotemporal lobar degeneration.
Woollacott IOC et al.
Journal of Neuroinflammation, 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
Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia.
Woollacott IOC et al.
Neurocase, 2018
Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.
Galimberti D et al.
Neurobiology of Aging, 2018
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.
Barber IS et al.
Neurobiology of Aging, 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
Evaluating pathogenic dementia variants in posterior cortical atrophy.
Carrasquillo MM et al.
Neurobiology of Aging, 2016
Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.
Rohrer JD et al.
The Lancet. Neurology, 2015
Phenotypic signatures of genetic frontotemporal dementia.
Rohrer JD et al.
Current Opinion in Neurology, 2011
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration.
Rohrer JD et al.
Brain : a Journal of Neurology, 2011
BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer's disease.
Venturelli E et al.
Journal of Alzheimer's Disease : Jad, 2011
Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations.
Rohrer JD et al.
Neuroimage, 2010
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Progranulin and frontotemporal lobar degeneration.
Pickering-Brown SM
Acta Neuropathologica, 2007
Novel progranulin mutation detected in 2 patients with FTLD.
Skoglund L et al.
Alzheimer Disease and Associated Disorders, 0