Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.D22fs
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GRN

NM_002087.4:p.D22fs

Associated Papers

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

31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf

Monozygotic Twins with Frontotemporal Dementia Due To Thr272fs GRN Mutation Discordant for Age At Onset.

Fumagalli GG et al.

Journal of Alzheimer's Disease : Jad, 2019

Genotype-phenotype links in frontotemporal lobar degeneration.

Van Mossevelde S et al.

Nature Reviews. Neurology, 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

Serum C-Peptide, Visfatin, Resistin, and Ghrelin are Altered in Sporadic and GRN-Associated Frontotemporal Lobar Degeneration.

Zanardini R et al.

Journal of Alzheimer's Disease : Jad, 2018

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

Progranulin gene variability influences the risk for bipolar I disorder, but not bipolar II disorder.

Galimberti D et al.

Bipolar Disorders, 2014

Novel missense progranulin gene mutation associated with the semantic variant of primary progressive aphasia.

Cerami C et al.

Journal of Alzheimer's Disease : Jad, 2013

Frontotemporal lobar degeneration: current knowledge and future challenges.

Cerami C et al.

Journal of Neurology, 2012

Clinical phenotypes and genetic biomarkers of FTLD.

Galimberti D et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2012

Genetics and expression analysis of the specificity protein 4 gene (SP4) in patients with Alzheimer's disease and frontotemporal lobar degeneration.

Villa C et al.

Journal of Alzheimer's Disease : Jad, 2012

Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.

Ferrari R et al.

Journal of Molecular Neuroscience : Mn, 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

Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred.

Pietroboni AM et al.

Journal of Alzheimer's Disease : Jad, 2011

Cerebrospinal fluid biomarkers in Progranulin mutations carriers.

Carecchio M et al.

Journal of Alzheimer's Disease : Jad, 2011

Progranulin and frontotemporal lobar degeneration.

Pickering-Brown SM

Acta Neuropathologica, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."