Associated Papers
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.
Doronzio PN et al.
Journal of Neurology, 2025
Graphene Quantum Dots Attenuate TDP-43 Proteinopathy in Amyotrophic Lateral Sclerosis.
Park NY et al.
Acs Nano, 2025
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
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
FUS-dependent microRNA deregulations identify TRIB2 as a druggable target for ALS motor neurons.
Ho WY et al.
Iscience, 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
Therapeutic modulation of GSTO activity rescues FUS-associated neurotoxicity via deglutathionylation in ALS disease models.
Cha SJ et al.
Developmental Cell, 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
ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.
Nahm M et al.
Science Translational Medicine, 2020
A Human iPSC Line Carrying a de novo Pathogenic FUS Mutation Identified in a Patient With Juvenile ALS Differentiated Into Motor Neurons With Pathological Characteristics.
Chen L et al.
Frontiers in Cellular Neuroscience, 2020
The role of de novo mutations in adult-onset neurodegenerative disorders.
Nicolas G et al.
Acta Neuropathologica, 2019
The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.
Liu ZJ et al.
Clinical Genetics, 2017
Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis.
Lim SM et al.
Molecular Neurodegeneration, 2016
Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin.
Zou ZY et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016
ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function.
Murakami T et al.
Neuron, 2015
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Hübers A et al.
Neurobiology of Aging, 2015
Mutations in SOD1 and FUS caused juvenile-onset sporadic amyotrophic lateral sclerosis with aggressive progression.
Zou ZY et al.
Annals of Translational Medicine, 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