Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.Q130fs
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GRN

NM_002087.4:p.Q130fs

Associated Papers

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

41240362 (PubMed )
Supplement: awaf423_supplementary_data.zip › brain-2025-01866-File011.xlsx › Supplementary_table_2

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.

Meng Y et al.

European Journal of Neurology, 2025

40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx

Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.

Zhou Z et al.

Biorxiv : the Preprint Server for Biology, 2023

38077003 (PubMed )
Supplement: media-4.xlsx › Reported_ALS_or_FTD_mut.

GRN Mutations Are Associated with Lewy Body Dementia.

Reho P et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.

Mol MO et al.

Alzheimer's Research & Therapy, 2022

35650585 (PubMed )
Supplement: 13195_2022_1018_MOESM1_ESM.xlsx › Table_S4_individual_data

The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series.

Ulugut Erkoyun H et al.

Journal of Alzheimer's Disease : Jad, 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

30279455 (PubMed )
Supplement: 41380_2018_224_MOESM1_ESM.docx

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

Preferential Disruption of Auditory Word Representations in Primary Progressive Aphasia With the Neuropathology of FTLD-TDP Type A.

Mesulam MM et al.

Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 2019

Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.

Hosokawa M et al.

Scientific Reports, 2017

A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.

Leverenz JB et al.

Brain : a Journal of Neurology, 2007

Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.

Meeter LH et al.

Dementia and Geriatric Cognitive Disorders Extra, 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."