Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.R535*
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GRN

NM_002087.4:p.R535*

Associated Papers

Progranulin and GPNMB: interactions in endo-lysosome function and inflammation in neurodegenerative disease.

Gillett DA et al.

Journal of Neuroinflammation, 2023

Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.

Ruf WP et al.

Brain Communications, 2023

37223130 (PubMed )
Supplement: fcad152_supplementary_data.pdf

GRN Mutations Are Associated with Lewy Body Dementia.

Reho P et al.

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

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 reduction is associated with increased tau phosphorylation in P301L tau transgenic mice.

Hosokawa M et al.

Journal of Neuropathology and Experimental Neurology, 2015

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

Ferrari R et al.

Journal of Molecular Neuroscience : Mn, 2011

Recent insights into the molecular genetics of dementia.

Rademakers R et al.

Trends in Neurosciences, 2009

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

Gijselinck I et al.

Human Mutation, 2008

Novel exon 1 progranulin gene variant in Alzheimer's disease.

Cortini F et al.

European Journal of Neurology, 2008

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

Brouwers N et al.

Archives of Neurology, 2007

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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."