Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R495fs
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FUS

NM_004960.4:p.R495fs

Associated Papers

Case Report: A case of ALS type 6 associated with a FUS gene variant and right limb muscle weakness and atrophy as the initial symptom.

Zhan X et al.

Frontiers in Genetics, 2025

FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.

Xiao X et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024

FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations.

Lu T et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

35232295 (PubMed )
Supplement: supplement_1.docx

Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis.

Zou ZY et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

ALS/FTD-associated protein FUS induces mitochondrial dysfunction by preferentially sequestering respiratory chain complex mRNAs.

Tsai YL et al.

Genes & Development, 2020

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.

Naumann M et al.

Annals of Clinical and Translational Neurology, 2019

The role of de novo mutations in adult-onset neurodegenerative disorders.

Nicolas G et al.

Acta Neuropathologica, 2019

30478624 (PubMed )
Supplement: 401_2018_1939_MOESM1_ESM.xlsx › Supp_Table_2_FTLD_spectrum

The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.

Liu ZJ et al.

Clinical Genetics, 2017

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.

Hübers A et al.

Neurobiology of Aging, 2015

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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."