Associated Papers
Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.
Spargo TP et al.
Biomedicines, 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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Animal Models of FUS-Proteinopathy: A Systematic Review.
Rezvykh A et al.
Biochemistry. Biokhimiia, 2024
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
Summa S et al.
Scientific 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
Phase separation and pathologic transitions of RNP condensates in neurons: implications for amyotrophic lateral sclerosis, frontotemporal dementia and other neurodegenerative disorders.
Naskar A et al.
Frontiers in Molecular Neuroscience, 2023
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.
Goldstein O et al.
Neurology. Genetics, 2022
Bioinformatic identification of previously unrecognized amyloidogenic proteins.
Rosenberg GM et al.
The Journal of Biological Chemistry, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
ALS-linked FUS mutations dysregulate G-quadruplex-dependent liquid-liquid phase separation and liquid-to-solid transition.
Ishiguro A et al.
The Journal of Biological Chemistry, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis.
Chen L et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
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
CRISPR/Cas9-Mediated Gene Correction to Understand ALS.
Yun Y et al.
International Journal of Molecular Sciences, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
A network of RNA and protein interactions in Fronto Temporal Dementia.
Fontana F et al.
Frontiers in Molecular Neuroscience, 2015
Activity-dependent FUS dysregulation disrupts synaptic homeostasis.
Sephton CF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
The role of FUS gene variants in neurodegenerative diseases.
Deng H et al.
Nature Reviews. Neurology, 2014
Investigating FUS variation in Parkinson's disease.
Labbé C et al.
Parkinsonism & Related Disorders, 2014
Identification of a Geranylgeranyl reductase gene for chlorophyll synthesis in rice.
Wang P et al.
Springerplus, 2014
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
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.
Vance C et al.
Human Molecular Genetics, 2013
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.
Lattante S et al.
Human Mutation, 2013
Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.
Nagayama S et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2012
FUS-related proteinopathies: lessons from animal models.
Lanson NA et al.
Brain Research, 2012
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
Andersen PM et al.
Nature Reviews. Neurology, 2011
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.
Yan J et al.
Neurology, 2010