Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.S135N
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FUS

NM_004960.4:p.S135N

Associated Papers

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

40085681 (PubMed )
Supplement: elife-96519-supp3.xlsx › ALL-SNV

Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries.

Martinelli I et al.

Journal of Neurology, 2023

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_031

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Bartoletti-Stella A et al.

Journal of Neurology, 2021

33770234 (PubMed )
Supplement: 415_2021_10521_MOESM1_ESM.docx

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy.

Wadman RI et al.

Neurology. Genetics, 2020

Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.

Corrado L et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP et al.

Trends in Genetics : Tig, 2018

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

28430856 (PubMed )
Supplement: awx082_Supp.pdf

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Uncertain_Significance

The impact of rare variants in FUS in essential tremor.

Hopfner F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.

Kamaraj B et al.

Journal of Biomolecular Structure & Dynamics, 2015

FUS and TDP43 genetic variability in FTD and CBS.

Huey ED et al.

Neurobiology of Aging, 2012

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis.

Rademakers R et al.

Muscle & Nerve, 2010

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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."