Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R522R
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FUS

NM_004960.4:p.R522R

Associated Papers

Targets and Gene Therapy of ALS (Part 1).

Shiryaeva O et al.

International Journal of Molecular Sciences, 2025

Gene Therapy in Amyotrophic Lateral Sclerosis.

Fang T et al.

Cells, 2022

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_071

Nuclear lipidome is altered in amyotrophic lateral sclerosis: A pilot study.

Ramírez-Nuñez O et al.

Journal of Neurochemistry, 2021

CRISPR/Cas9-Mediated Gene Correction to Understand ALS.

Yun Y et al.

International Journal of Molecular Sciences, 2020

Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs.

Hawrot J et al.

Neurobiology of Disease, 2020

Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients.

Vrabec K et al.

Frontiers in Molecular Neuroscience, 2018

CRISPR/Cas9-mediated targeted gene correction in amyotrophic lateral sclerosis patient iPSCs.

Wang L et al.

Protein & Cell, 2017

Direct Reprogramming Rather than iPSC-Based Reprogramming Maintains Aging Hallmarks in Human Motor Neurons.

Tang Y et al.

Frontiers in Molecular Neuroscience, 2017

Direct Lineage Reprogramming Reveals Disease-Specific Phenotypes of Motor Neurons from Human ALS Patients.

Liu ML et al.

Cell Reports, 2016

[Neuronal cells derived from induced pluripotent stem cells to model motoneuron diseases].

Bohl D

Biologie Aujourd'hui, 2016

Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis.

Tarlarini C et al.

European Journal of Neurology, 2015

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population.

Vrabec K et al.

Neurobiology of Aging, 2015

FUS mutations in sporadic amyotrophic lateral sclerosis.

Lai SL et al.

Neurobiology of Aging, 2011

Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.

Belzil VV et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.

Corrado L et al.

Journal of Medical Genetics, 2010

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

Broustal O et al.

Journal of Alzheimer's Disease : Jad, 2010

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.

Ticozzi N et al.

Neurology, 2009

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.

Chiò A et al.

Neurobiology of Aging, 2009

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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."