Associated Papers
Skin TDP-43 pathology as a candidate biomarker for predicting amyotrophic lateral sclerosis decades prior to motor symptom onset.
Waldron FM et al.
Biorxiv : the Preprint Server for Biology, 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
Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications.
Moens TG et al.
The Lancet. Neurology, 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
Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis.
Okada K et al.
Brain : a Journal of Neurology, 2024
Glycolic acid and D-lactate-putative products of DJ-1-restore neurodegeneration in FUS - and SOD1-ALS.
Pal A et al.
Life Science Alliance, 2024
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
Animal Models of FUS-Proteinopathy: A Systematic Review.
Rezvykh A et al.
Biochemistry. Biokhimiia, 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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Restoring Axonal Organelle Motility and Regeneration in Cultured FUS-ALS Motoneurons through Magnetic Field Stimulation Suggests an Alternative Therapeutic Approach.
Kandhavivorn W et al.
Cells, 2023
Live Cell Imaging of ATP Levels Reveals Metabolic Compartmentalization within Motoneurons and Early Metabolic Changes in FUS ALS Motoneurons.
Zimyanin VL et al.
Cells, 2023
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.
Suzuki N et al.
Journal of Human Genetics, 2023
FUS ALS neurons activate major stress pathways and reduce translation as an early protective mechanism against neurodegeneration.
Szewczyk B et al.
Cell Reports, 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
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.
Goldstein O et al.
Neurology. Genetics, 2022
Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis.
Liu W et al.
Neurological Research, 2022
Widespread Mislocalization of FUS Is Associated With Mitochondrial Abnormalities in Skeletal Muscle in Amyotrophic Lateral Sclerosis With FUS Mutations.
Yu M et al.
Journal of Neuropathology and Experimental Neurology, 2022
Emerging hiPSC Models for Drug Discovery in Neurodegenerative Diseases.
Trudler D et al.
International Journal of Molecular Sciences, 2021
The distinct manifestation of young-onset amyotrophic lateral sclerosis in China.
Lin J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Methylation and Expression of Mutant FUS in Motor Neurons Differentiated From Induced Pluripotent Stem Cells From ALS Patients.
Hartung T et al.
Frontiers in Cell and Developmental Biology, 2021
Genome Wide Analysis Points towards Subtype-Specific Diseases in Different Genetic Forms of Amyotrophic Lateral Sclerosis.
Dash BP et al.
International Journal of Molecular Sciences, 2020
Aberrant interaction between FUS and SFPQ in neurons in a wide range of FTLD spectrum diseases.
Ishigaki S et al.
Brain : a Journal of Neurology, 2020
Modeling ALS using iPSCs: is it possible to reproduce the phenotypic variations observed in patients in vitro?
Vasques JF et al.
Regenerative Medicine, 2020
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 2020
Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs.
Hawrot J et al.
Neurobiology of Disease, 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
Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis.
Liu ZJ et al.
Aging and Disease, 2019
Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neurons.
Akiyama T et al.
Ebiomedicine, 2019
Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.
Chen C et al.
Molecules (basel, Switzerland), 2019
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Novel and Recurrent Mutations in a Cohort of Chinese Patients With Young-Onset Amyotrophic Lateral Sclerosis.
Deng J et al.
Frontiers in Neuroscience, 2019
Amyotrophic Lateral Sclerosis associated FUS mutation shortens mitochondria and induces neurotoxicity.
Nakaya T et al.
Scientific Reports, 2018
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.
Naumann M et al.
Nature Communications, 2018
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
Aggregation of FET Proteins as a Pathological Change in Amyotrophic Lateral Sclerosis.
Furukawa Y et al.
Advances in Experimental Medicine and Biology, 2017
Current Advances and Limitations in Modeling ALS/FTD in a Dish Using Induced Pluripotent Stem Cells.
Guo W et al.
Frontiers in Neuroscience, 2017
Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.
Akiyama T et al.
Muscle & Nerve, 2016