Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.M1V
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GRN

NM_002087.4:p.M1V

Associated Papers

Frontotemporal dementia as a consequence of GRN mutations: From disease cause to models to therapies.

Salzano S et al.

Pharmacological Research, 2025

Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2025

A Systematic Review of the Genetics and Pathology of Psychosis in Frontotemporal Dementia.

Chatterjee A et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024

Progranulin haploinsufficiency mediates cytoplasmic TDP-43 aggregation with lysosomal abnormalities in human microglia.

Sung W et al.

Journal of Neuroinflammation, 2024

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Chen YP et al.

Journal of Medical Genetics, 2022

34544842 (PubMed )
Supplement: jmedgenet-2021-107965supp003.pdf

Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.

Sellami L et al.

Neurobiology of Aging, 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

Precision medicine of frontotemporal dementia: from genotype to phenotype.

Che XQ et al.

Frontiers in Bioscience (landmark Edition), 2018

Progranulin mutations as risk factors for Alzheimer disease.

Perry DC et al.

Jama Neurology, 2013

A thorough assessment of benign genetic variability in GRN and MAPT.

Guerreiro RJ et al.

Human Mutation, 2010

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

Gijselinck I et al.

Human Mutation, 2008

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

Le Ber I et al.

Brain : a Journal of Neurology, 2008

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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."