Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.P21_D22insFs
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GRN

NM_002087.4:p.P21_D22insFs

Associated Papers

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

36970912 (PubMed )
Supplement: jad-93-jad230052-s001.pdf

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

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review.

Hosaka T et al.

Bmc Neurology, 2017

Progranulin axis and recent developments in frontotemporal lobar degeneration.

Nicholson AM et al.

Alzheimer's Research & Therapy, 2012

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Archives of Neurology, 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

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.

Gijselinck I et al.

Human Mutation, 2008

Progranulin: normal function and role in neurodegeneration.

Eriksen JL et al.

Journal of Neurochemistry, 2008

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.

Mackenzie IR et al.

Neurogenetics, 2007

The genetics of frontotemporal lobar degeneration.

Rademakers R et al.

Current Neurology and Neuroscience Reports, 2007

Progranulin and frontotemporal lobar degeneration.

Pickering-Brown SM

Acta Neuropathologica, 2007

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Gass J et al.

Human Molecular Genetics, 2006

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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."