Associated Papers
Mitochondria and Lipid Defects in Hereditary Progranulin-Related Frontotemporal Dementia.
Ondaro J et al.
Cells, 2026
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
Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.
Almeida MR et al.
International Journal of Molecular Sciences, 2023
Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches.
Zecca C et al.
Critical Reviews in Clinical Laboratory Sciences, 2023
Progranulin Deficiency Induces Mitochondrial Dysfunction in Frontotemporal Lobar Degeneration with TDP-43 Inclusions.
Rodríguez-Periñán G et al.
Antioxidants (basel, Switzerland), 2023
Sensitivity of the Social Behavior Observer Checklist to Early Symptoms of Patients With Frontotemporal Dementia.
Toller G et al.
Neurology, 2022
Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort.
Poos JM et al.
Neurology, 2022
Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia.
Panman JL et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
Perrone F et al.
Genome Medicine, 2021
Therapeutic potential of novel Cell Division Cycle Kinase 7 inhibitors on TDP-43-related pathogenesis such as Frontotemporal Lobar Degeneration (FTLD) and amyotrophic lateral sclerosis (ALS).
Vaca G et al.
Journal of Neurochemistry, 2021
Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.
Benussi A et al.
Jama Network Open, 2021
Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology.
Zhou X et al.
Advances in Experimental Medicine and Biology, 2021
Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration.
Tavares TP et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Recapitulation of Pathological TDP-43 Features in Immortalized Lymphocytes from Sporadic ALS Patients.
Posa D et al.
Molecular Neurobiology, 2019
Longitudinal Neuropsychological Study of Presymptomatic c.709-1G>A Progranulin Mutation Carriers.
Barandiaran M et al.
Journal of the International Neuropsychological Society : Jins, 2019
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C et al.
The Lancet. Neurology, 2018
The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics.
Moreno F et al.
Plos One, 2017
Increased Wnt Signaling and Reduced Viability in a Neuronal Model of Progranulin-Deficient Frontotemporal Lobar Degeneration.
de la Encarnación A et al.
Molecular Neurobiology, 2016
Progranulin deficiency induces overactivation of WNT5A expression via TNF-α/NF-κB pathway in peripheral cells from frontotemporal dementia-linked granulin mutation carriers.
Alquézar C et al.
Journal of Psychiatry & Neuroscience : Jpn, 2016
Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia.
Alquezar C et al.
Molecular Neurodegeneration, 2016
Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.
Tang SS et al.
Journal of Alzheimer's Disease : Jad, 2016
Progranulin Deficiency Reduces CDK4/6/pRb Activation and Survival of Human Neuroblastoma SH-SY5Y Cells.
de la Encarnación A et al.
Molecular Neurobiology, 2015
Increasing progranulin levels and blockade of the ERK1/2 pathway: upstream and downstream strategies for the treatment of progranulin deficient frontotemporal dementia.
Alquezar C et al.
European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology, 2015
Neurogenetic disorders in the Basque population.
Martí Massó JF et al.
Annals of Human Genetics, 2015
Early neuropsychological characteristics of progranulin mutation carriers.
Hallam BJ et al.
Journal of the International Neuropsychological Society : Jins, 2014
Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.
Suárez-Calvet M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
PGRN haploinsufficiency increased Wnt5a signaling in peripheral cells from frontotemporal lobar degeneration-progranulin mutation carriers.
Alquézar C et al.
Neurobiology of Aging, 2014
Calmodulin levels in blood cells as a potential biomarker of Alzheimer's disease.
Esteras N et al.
Alzheimer's Research & Therapy, 2013
Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers.
Moreno F et al.
Neurobiology of Aging, 2013
Neuropsychological features of asymptomatic c.709-1G>A progranulin mutation carriers.
Barandiaran M et al.
Journal of the International Neuropsychological Society : Jins, 2012
Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia.
Dols-Icardo O et al.
Neurobiology of Aging, 2012
Alteration in cell cycle-related proteins in lymphoblasts from carriers of the c.709-1G>A PGRN mutation associated with FTLD-TDP dementia.
Alquezar C et al.
Neurobiology of Aging, 2012
FOXP2, APOE, and PRNP: new modulators in primary progressive aphasia.
Premi E et al.
Journal of Alzheimer's Disease : Jad, 2012
Inactivation of CDK/pRb pathway normalizes survival pattern of lymphoblasts expressing the FTLD-progranulin mutation c.709-1G>A.
Alquezar C et al.
Plos One, 2012
Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred.
Pietroboni AM et al.
Journal of Alzheimer's Disease : Jad, 2011
"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation.
Moreno F et al.
Neurology, 2009
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.
Benussi L et al.
Neurobiology of Disease, 2009
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation.
Moreno F et al.
Alzheimer Disease and Associated Disorders, 0