Associated Papers
Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions.
Stenvall E et al.
Human Molecular Genetics, 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
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Chatterjee M et al.
Nature Medicine, 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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 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
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
Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.
Porkka NK et al.
Oncotarget, 2020
Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.
Chen C et al.
Molecules (basel, Switzerland), 2019
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Emerging mechanisms of molecular pathology in ALS.
Peters OM et al.
The Journal of Clinical Investigation, 2015
The role of FUS gene variants in neurodegenerative diseases.
Deng H et al.
Nature Reviews. Neurology, 2014
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons.
Wang WY et al.
Nature Neuroscience, 2013
Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma.
Bentmann E et al.
The Febs Journal, 2013
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.
Lattante S et al.
Human Mutation, 2013
FUS-related proteinopathies: lessons from animal models.
Lanson NA et al.
Brain Research, 2012
TDP-43 and FUS/TLS: cellular functions and implications for neurodegeneration.
Fiesel FC et al.
The Febs Journal, 2011
FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis.
Kabashi E et al.
Plos Genetics, 2011
Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations.
Kino Y et al.
Nucleic Acids Research, 2011
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import.
Dormann D et al.
The Embo Journal, 2010
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.
Lagier-Tourenne C et al.
Human Molecular Genetics, 2010
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
Dion PA et al.
Nature Reviews. Genetics, 2009
Mutations in FUS cause FALS and SALS in French and French Canadian populations.
Belzil VV et al.
Neurology, 2009
RNA-binding proteins in neurodegenerative disease: TDP-43 and beyond.
Hanson KA et al.
Wiley Interdisciplinary Reviews. Rna, 0