Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.Q401*
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GRN

NM_002087.4:p.Q401*

Associated Papers

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 axis and recent developments in frontotemporal lobar degeneration.

Nicholson AM et al.

Alzheimer's Research & Therapy, 2012

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

Ferrari R et al.

Journal of Molecular Neuroscience : Mn, 2011

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

Gijselinck I et al.

Human Mutation, 2008

Progranulin: normal function and role in neurodegeneration.

Eriksen JL et al.

Journal of Neurochemistry, 2008

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.

Mackenzie IR et al.

Neurogenetics, 2007

Progranulin null mutations in both sporadic and familial frontotemporal dementia.

Le Ber I et al.

Human Mutation, 2007

The genetics of frontotemporal lobar degeneration.

Rademakers R et al.

Current Neurology and Neuroscience Reports, 2007

Progranulin and frontotemporal lobar degeneration.

Pickering-Brown SM

Acta Neuropathologica, 2007

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

van der Zee J et al.

Human Mutation, 2007

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