Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.G35fs
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GRN

NM_002087.4:p.G35fs

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

Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.

Benussi A et al.

Jama Network Open, 2021

33404617 (PubMed )
Supplement: jamanetwopen-e2030194-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

Downregulation of exosomal miR-204-5p and miR-632 as a biomarker for FTD: a GENFI study.

Schneider R et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

29434051 (PubMed )
Supplement: jnnp-2017-317492supp001.pdf

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.

Galimberti D et al.

Neurobiology of Aging, 2018

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

Rohrer JD et al.

The Lancet. Neurology, 2015

Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.

Ferrari R et al.

Journal of Molecular Neuroscience : Mn, 2011

Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels.

Cruchaga C et al.

Archives of 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 and frontotemporal lobar degeneration.

Pickering-Brown SM

Acta Neuropathologica, 2007

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."