Associated Papers
Protein Structure-based FUS Mutational Subtypes Are Associated With Protein Mislocalization in Amyotrophic Lateral Sclerosis Patients.
Yang W et al.
Molecular Neurobiology, 2025
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
Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.
Spargo TP et al.
Biomedicines, 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
Post-Translational Variants of Major Proteins in Amyotrophic Lateral Sclerosis Provide New Insights into the Pathophysiology of the Disease.
Bedja-Iacona L et al.
International Journal of Molecular Sciences, 2024
FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.
Xiao X et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
Nuclear-import receptors as gatekeepers of pathological phase transitions in ALS/FTD.
Khalil B et al.
Molecular Neurodegeneration, 2024
Animal Models of FUS-Proteinopathy: A Systematic Review.
Rezvykh A et al.
Biochemistry. Biokhimiia, 2024
Systematic Assessment of Protein C-Termini Mutated in Human Disorders.
FitzHugh ZT et al.
Biomolecules, 2023
Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.
Wang P et al.
Chinese Medical Journal, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.
Goldstein O et al.
Neurology. Genetics, 2022
Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis.
Zou ZY et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis.
Chen L et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.
Naumann M et al.
Annals of Clinical and Translational Neurology, 2019
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.
Naumann M et al.
Nature Communications, 2018
A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.
Corcia P et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
Couthouis J et al.
Plos Genetics, 2014
From Mouse Models to Human Disease: An Approach for Amyotrophic Lateral Sclerosis.
Alrafiah AR
In Vivo (athens, Greece), 0