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Nature Neuroscience|October 9, 2019
FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosisGina Picchiarelli, Maria Demestre, Amila Zuko, et al.American Journal of Human Genetics|March 21, 2020
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental DisorderFrancesca Mattioli, Gaelle Hayot, Nathalie Drouot, et al.Neuron|January 10, 2017
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia SyndromeChantal Sellier, Ronald A M Buijsen, Fang He, et al.Nature Communications|January 20, 2023
Integrative genetic analysis illuminates ALS heritability and identifies risk genesSalim Megat, Natalia Mora, Jason Sanogo, et al.Nature Communications|April 12, 2016
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophyFernande Freyermuth, Frédérique Rau, Yosuke Kokunai, et al.Pageof 3