Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.C253*
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GRN

NM_002087.4:p.C253*

Associated Papers

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.

Frequency of frontotemporal dementia-related gene variants in Turkey.

Artan S et al.

Neurobiology of Aging, 2021

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

Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations.

Licata A et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency.

Evers BM et al.

Cell Reports, 2017

28903038 (PubMed )
Supplement: NIHMS902297-supplement-1.pdf

A network of RNA and protein interactions in Fronto Temporal Dementia.

Fontana F et al.

Frontiers in Molecular Neuroscience, 2015

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

Ferrari R et al.

Journal of Molecular Neuroscience : Mn, 2011

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Archives of Neurology, 2011

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

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Gass J et al.

Human Molecular Genetics, 2006

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