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Science (New York, N.Y.)|October 3, 2024
Creation of de novo cryptic splicing for ALS and FTD precision medicineOscar G Wilkins, Max Z Y J Chien, Josette J Wlaschin, et al.Neurology|November 26, 2024
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA DatasetSpencer B Huggett, Andrew T N Tebbenkamp, Carlo Rinaldi, et al.Brain : a Journal of Neurology|October 29, 2014
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysisSilvia Corrochano, Roope Männikkö, Peter I Joyce, et al.Nature Genetics|March 31, 2019
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.Human Molecular Genetics|December 4, 2014
A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicityPeter I Joyce, Philip Mcgoldrick, Rachele A Saccon, et al.Biorxiv : the Preprint Server for Biology|July 16, 2025
TDP-43 pathology induces CD8+ T cell activation through cryptic epitope recognitionShahab Chizari, Matteo Zanovello, Steven Kong, et al.Nature Neuroscience|October 21, 2025
TDP-43 loss induces cryptic polyadenylation in ALS/FTDSam Bryce-Smith, Anna-Leigh Brown, Max Z Y J Chien, et al.Nature Genetics|April 28, 2019
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.American Journal of Human Genetics|February 26, 2013
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK populationJon Beck, Mark Poulter, Davina Hensman, et al.Human Molecular Genetics|November 26, 2015
Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegenerationPeter I Joyce, Pietro Fratta, Allison S Landman, et al.Pageof 12