Two heterozygous progranulin mutations in progressive supranuclear palsy

Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes

(2020) Marina Picillo et al.   JOURNAL OF ALZHEIMERS DISEASE

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms

(2019) Vincent Huin et al.   BRAIN

Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders

(2018) Kuo-Hsuan Chang et al.   PARKINSONISM & RELATED DISORDERS

Combined measurement of plasma cystatin C and low-density lipoprotein cholesterol: A valuable tool for evaluating progressive supranuclear palsy

(2018) Ruihui Weng et al.   PARKINSONISM & RELATED DISORDERS

Advances in the Research of Risk Factors and Prodromal Biomarkers of Parkinson’s Disease

(2018) Fen Xie et al.   ACS Chemical Neuroscience

Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria

(2017) Günter U. Höglinger et al.   MOVEMENT DISORDERS

Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin

(2016) Gernot Kleinberger et al.   NEUROBIOLOGY OF AGING

Progressive Supranuclear Palsy: What Do We Know About it?

(2015) Ling Long et al.   CURRENT MEDICINAL CHEMISTRY

Progranulin Mutations as Risk Factors for Alzheimer Disease

(2013) David C. Perry et al.   JAMA Neurology

Regulation of Progranulin Expression in Human Microglia and Proteolysis of Progranulin by Matrix Metalloproteinase-12 (MMP-12)

(2012) Hyeon-Sook Suh et al.   PLoS One

FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases

(2011) Robert Rusina et al.   BMC Neurology

Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation

(2011) Lucio Tremolizzo et al.   MOVEMENT DISORDERS

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration

(2009) Alice S. Chen-Plotkin et al.   ACTA NEUROPATHOLOGICA

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

(2009) Fangfang Yin et al.   JOURNAL OF EXPERIMENTAL MEDICINE