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
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients.
Ivantsik O et al.
Genes, 2024
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 2023
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Arno G et al.
American Journal of Human Genetics, 2016
ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function.
Murakami T et al.
Neuron, 2015
Emerging mechanisms of molecular pathology in ALS.
Peters OM et al.
The Journal of Clinical Investigation, 2015
The impact of rare variants in FUS in essential tremor.
Hopfner F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.
Kamaraj B et al.
Journal of Biomolecular Structure & Dynamics, 2015
Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.
Belzil VV et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.
Broustal O et al.
Journal of Alzheimer's Disease : Jad, 2010
Mutations in FUS cause FALS and SALS in French and French Canadian populations.
Belzil VV et al.
Neurology, 2009