Associated Papers
Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia-clinical features and neuroimaging correlates.
Ghirelli A et al.
Journal of Neurology, 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
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
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
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
Cerebrospinal Fluid YKL-40 and Chitotriosidase Levels in Frontotemporal Dementia Vary by Clinical, Genetic and Pathological Subtype.
Woollacott IOC et al.
Dementia and Geriatric Cognitive Disorders, 2020
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.
Keogh MJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 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
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).
Lattante S et al.
Trends in Genetics : Tig, 2015
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
A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.
Lashley T et al.
Neuropathology and Applied Neurobiology, 2014
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
Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations.
Rohrer JD et al.
Neuroimage, 2010
The heritability and genetics of frontotemporal lobar degeneration.
Rohrer JD et al.
Neurology, 2009
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Loss of progranulin function in frontotemporal lobar degeneration.
Cruts M et al.
Trends in Genetics : Tig, 2008
Progranulin and frontotemporal lobar degeneration.
Pickering-Brown SM
Acta Neuropathologica, 2007