Associated Papers
A case of rapidly progressive juvenile amyotrophic lateral sclerosis associated with a pathogenetic heterozygous de novo variant in the FUS gene.
Orologio I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
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
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 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
Modeling sporadic juvenile ALS in iPSC-derived motor neurons explores the pathogenesis of FUSR503fs mutation.
Chen L et al.
Frontiers in Cellular Neuroscience, 2024
Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations.
Ali Z et al.
Disease Models & Mechanisms, 2023
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 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 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
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.
Goldstein O et al.
Neurology. Genetics, 2022
Genetic analysis in Chinese patients with familial or young-onset amyotrophic lateral sclerosis.
Ma J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Effects of intracellular calcium accumulation on proteins encoded by the major genes underlying amyotrophic lateral sclerosis.
De Marco G et al.
Scientific Reports, 2022
The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment.
Lanteri P et al.
Neurobiology of Aging, 2021
Frameshift peptides alter the properties of truncated FUS proteins in ALS-FUS.
An H et al.
Molecular Brain, 2020
Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.
Chen C et al.
Molecules (basel, Switzerland), 2019
The role of de novo mutations in adult-onset neurodegenerative disorders.
Nicolas G et al.
Acta Neuropathologica, 2019
Juvenile-onset Sporadic Amyotrophic Lateral Sclerosis with a Frameshift FUS Gene Mutation Presenting Unique Neuroradiological Findings and Cognitive Impairment.
Hirayanagi K et al.
Internal Medicine (tokyo, Japan), 2016
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Hübers A et al.
Neurobiology of Aging, 2015
De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis.
Kim YE et al.
Neurobiology of Aging, 2015
Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.
Kent L et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014
De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.
Calvo A et al.
Neurobiology of Aging, 2014
De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.
Zou ZY et al.
Neurobiology of Aging, 2013