Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.P34delFs
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GRN

NM_002087.4:p.P34delFs

Associated Papers

Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration.

Shen T et al.

Molecular Neurodegeneration, 2025

39920674 (PubMed )
Supplement: 13024_2025_806_MOESM1_ESM.pdf

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

Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases.

Chang A et al.

Cell, 2022

Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities.

Ruiz-Barrio I et al.

Frontiers in Neurology, 2022

Two heterozygous progranulin mutations in progressive supranuclear palsy.

Yang W et al.

Brain : a Journal of Neurology, 2021

Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity.

Valdez C et al.

Human Molecular Genetics, 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

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

Genetic predictors of survival in behavioral variant frontotemporal degeneration.

Caswell C et al.

Neurology, 2019

FTLD-TDP With and Without GRN Mutations Cause Different Patterns of CA1 Pathology.

Mao Q et al.

Journal of Neuropathology and Experimental Neurology, 2019

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

Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.

Chiang HH et al.

European Journal of Human Genetics : Ejhg, 2013

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.

Nicholson AM et al.

Journal of Neurochemistry, 2013

Progranulin axis and recent developments in frontotemporal lobar degeneration.

Nicholson AM et al.

Alzheimer's Research & Therapy, 2012

Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN.

Whitwell JL et al.

Neurology, 2011

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.

Rusina R et al.

Bmc Neurology, 2011

Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation.

Skoglund L et al.

Neurogenetics, 2009

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

Gijselinck I et al.

Human Mutation, 2008

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family.

Chiang HH et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2008

[Frontotemporal dementia (FTD) and genetic mutations including progranulin gene].

Arai T et al.

Rinsho Shinkeigaku = Clinical Neurology, 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

Frontotemporal Dementia in Russia: Genetic Structure, Phenotypic Diversity, and Diagnostic Biomarkers.

Shpilyukova YA et al.

Basic and Clinical Neuroscience, 0

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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."