Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Q290*
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FUS

NM_004960.4:p.Q290*

Associated Papers

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS.

Schweingruber C et al.

Nature Communications, 2025

40389397 (PubMed )
Supplement: 41467_2025_59679_MOESM3_ESM.xlsx › FUS_Clinical_Data

Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications.

Moens TG et al.

The Lancet. Neurology, 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond.

Orsucci D et al.

Journal of the Neurological Sciences, 2024

Animal Models of FUS-Proteinopathy: A Systematic Review.

Rezvykh A et al.

Biochemistry. Biokhimiia, 2024

Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis.

Kumar R et al.

Ibro Neuroscience Reports, 2022

Generation of a heterozygous FUS-Q290X knock in human embryonic stem cell line (WAe009-A-83) using CRISPR/Cas9 system.

Zhang Y et al.

Stem Cell Research, 2022

Genomic Markers for Essential Tremor.

Jiménez-Jiménez FJ et al.

Pharmaceuticals (basel, Switzerland), 2021

ALS Genetics: Gains, Losses, and Implications for Future Therapies.

Kim G et al.

Neuron, 2020

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.

Yan YP et al.

Cns Neuroscience & Therapeutics, 2020

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.

Picher-Martel V et al.

Journal of Child Neurology, 2020

Genetic Risk Factors for Essential Tremor: A Review.

Siokas V et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

32775018 (PubMed )
Supplement: tohm-10-1-67-s2.pdf

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Zhou B et al.

Brain and Behavior, 2020

[Essential tremor: genetic update].

Deng H et al.

Expert Reviews in Molecular Medicine, 2019

Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.

Chen C et al.

Molecules (basel, Switzerland), 2019

A juvenile sporadic amyotrophic lateral sclerosis case with P525L mutation in the FUS gene: A rare co-occurrence of autism spectrum disorder and tremor.

Eura N et al.

Journal of the Neurological Sciences, 2019

Essential tremor.

Clark LN et al.

Handbook of Clinical Neurology, 2018

Delta-amino-levulinic acid dehydratase gene and essential tremor.

Agúndez JAG et al.

European Journal of Clinical Investigation, 2017

FUS-linked essential tremor associated with motor dysfunction in Drosophila.

Tio M et al.

Human Genetics, 2016

A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor.

Jiménez-Jiménez FJ et al.

Neurological Research, 2016

Identification of candidate genes for familial early-onset essential tremor.

Liu X et al.

European Journal of Human Genetics : Ejhg, 2016

Parkinsonism, movement disorders and genetics in frontotemporal dementia.

Baizabal-Carvallo JF et al.

Nature Reviews. Neurology, 2016

The impact of rare variants in FUS in essential tremor.

Hopfner F et al.

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

The role of FUS gene variants in neurodegenerative diseases.

Deng H et al.

Nature Reviews. Neurology, 2014

Identification of FUS p.R377W in essential tremor.

Rajput A et al.

European Journal of Neurology, 2014

Genetic analysis of the fused in sarcoma gene in Chinese Han patients with Parkinson's disease.

Gao K et al.

Parkinsonism & Related Disorders, 2014

Investigating FUS variation in Parkinson's disease.

Labbé C et al.

Parkinsonism & Related Disorders, 2014

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor.

Lorenzo-Betancor O et al.

Plos One, 2014

Update on genetics of essential tremor.

Jiménez-Jiménez FJ et al.

Acta Neurologica Scandinavica, 2013

No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population.

García-Martín E et al.

Pharmacogenetics and Genomics, 2013

Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans.

Ortega-Cubero S et al.

Neurobiology of Aging, 2013

Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor.

Zheng W et al.

Neurobiology of Aging, 2013

Investigating the role of FUS exonic variants in essential tremor.

Labbé C et al.

Parkinsonism & Related Disorders, 2013

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Lattante S et al.

Human Mutation, 2013

Genetic analysis of the FUS/TLS gene in essential tremor.

Parmalee N et al.

European Journal of Neurology, 2013

FUS gene mutations cause essential tremor: a surprise but also confirms genetic heterogeneity of essential tremor.

Macerollo A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Exome sequencing identifies FUS mutations as a cause of essential tremor.

Merner ND et al.

American Journal of Human Genetics, 2012

Challenges in essential tremor genetics.

Clark LN et al.

Revue Neurologique, 0

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