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
FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.
Xiao X et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling.
Hedges EC et al.
Genes, 2023
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.
Suzuki N et al.
Journal of Human Genetics, 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
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Acid sphingomyelinase inhibition improves motor behavioral deficits and neuronal loss in an amyotrophic lateral sclerosis mouse model.
Choi BJ et al.
Bmb Reports, 2022
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis.
Grassano M et al.
Neurology. Genetics, 2022
Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11.
Hedges EC et al.
Stem Cell Research, 2021
Broadening the clinical spectrum of FUS mutations: a case with monomelic amyotrophy with a late progression to amyotrophic lateral sclerosis.
Moglia C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
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 multistep hypothesis of ALS revisited: The role of genetic mutations.
Chiò A et al.
Neurology, 2018
Directly converted iNeuron as a screening model for pathogenic variants.
Lim SM et al.
Oncotarget, 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
Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.
Kim HJ et al.
Neurobiology of Aging, 2016
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