Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.M1L
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GRN

NM_002087.4:p.M1L

Associated Papers

The first report of ceroid lipofuscinosis type 11 in China: a novel mutation of GRN and updated clinical review.

Shi D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.

Davis SE et al.

Acta Neuropathologica Communications, 2023

FTD-PSP is an Unusual Clinical Phenotype in A Frontotemporal Dementia Patient with A Novel Progranulin Mutation.

Deng B et al.

Aging and Disease, 2021

Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency.

Gaweda-Walerych K et al.

Frontiers in Molecular Neuroscience, 2021

Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.

Staffaroni AM et al.

Jama Network Open, 2020

33112398 (PubMed )
Supplement: jamanetwopen-e2022847-s001.pdf

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Huin V et al.

Brain : a Journal of Neurology, 2020

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.

Steele NZ et al.

Advances in Genomics and Genetics, 2018

Frontotemporal Dementia and Psychiatric Illness: Emerging Clinical and Biological Links in Gene Carriers.

Block NR et al.

The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry, 2016

Progranulin mutations as risk factors for Alzheimer disease.

Perry DC et al.

Jama Neurology, 2013

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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."