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
Frontotemporal dementia as a consequence of GRN mutations: From disease cause to models to therapies.
Salzano S et al.
Pharmacological Research, 2025
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
Libonati L et al.
Journal of Neurology, 2024
Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations.
Kashyap SN et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2023
GRN Missense Variants and Familial Alzheimer's Disease: Two Case Reports.
Ingannato A et al.
Journal of Alzheimer's Disease : Jad, 2023
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.
Millar Vernetti P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology.
Zhou X et al.
Advances in Experimental Medicine and Biology, 2021
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Koriath C et al.
Molecular Psychiatry, 2020
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
Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders.
Chang KH et al.
Parkinsonism & Related Disorders, 2018
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration.
Piaceri I et al.
Journal of Alzheimer's Disease : Jad, 2018
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
Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease.
Chitramuthu BP et al.
Brain : a Journal of Neurology, 2017
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin.
Kleinberger G et al.
Neurobiology of Aging, 2016
Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.
Karch CM et al.
Neurobiology of Aging, 2016
Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration.
Piaceri I et al.
Journal of Alzheimer's Disease : Jad, 2014
Novel progranulin variants do not disrupt progranulin secretion and cleavage.
Karch CM et al.
Neurobiology of Aging, 2013
Mechanisms of granulin deficiency: lessons from cellular and animal models.
Kleinberger G et al.
Molecular Neurobiology, 2013
Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.
Bernardi L et al.
Neurobiology of Aging, 2012
Losing protein in the brain: the case of progranulin.
Ghidoni R et al.
Brain Research, 2012
Progranulin: an emerging target for FTLD therapies.
Gass J et al.
Brain Research, 2012
Progranulin axis and recent developments in frontotemporal lobar degeneration.
Nicholson AM et al.
Alzheimer's Research & Therapy, 2012
Human genetics as a tool to identify progranulin regulators.
Nicholson AM et al.
Journal of Molecular Neuroscience : Mn, 2011
Microglial upregulation of progranulin as a marker of motor neuron degeneration.
Philips T et al.
Journal of Neuropathology and Experimental Neurology, 2010
Pathogenic cysteine mutations affect progranulin function and production of mature granulins.
Wang J et al.
Journal of Neurochemistry, 2010
A thorough assessment of benign genetic variability in GRN and MAPT.
Guerreiro RJ et al.
Human Mutation, 2010
Cortical atrophy and language network reorganization associated with a novel progranulin mutation.
Cruchaga C et al.
Cerebral Cortex (new York, N.y. : 1991), 2009
Recent insights into the molecular genetics of dementia.
Rademakers R et al.
Trends in Neurosciences, 2009
The Genetics of Monogenic Frontotemporal Dementia.
Takada LT
Dementia & Neuropsychologia, 0
Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.
Sharma R et al.
Mutation Research. Reviews in Mutation Research, 0