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
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.
Suzuki N et al.
Journal of Human Genetics, 2023
Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1.
Haouari S et al.
International Journal of Molecular Sciences, 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
The distinct manifestation of young-onset amyotrophic lateral sclerosis in China.
Lin J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.
Chen C et al.
Molecules (basel, Switzerland), 2019
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.
McCann EP et al.
Clinical Genetics, 2017
Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.
Akiyama T et al.
Muscle & Nerve, 2016
Emerging mechanisms of molecular pathology in ALS.
Peters OM et al.
The Journal of Clinical Investigation, 2015
Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation.
Kirby J et al.
Neuropathology and Applied Neurobiology, 2013
FUS-related proteinopathies: lessons from animal models.
Lanson NA et al.
Brain Research, 2012
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
Brown JA et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012