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Annals of Neurology|March 19, 2026
High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral SclerosisDelia Gagliardi, Chiara Villella, Matteo Zanovello, et al.Neurobiology of Aging|September 18, 2013
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptionsPietro Fratta, Toby Collins, Sally Pemble, et al.Human Molecular Genetics|September 22, 2018
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal functionPietro Fratta, Francesca Ornaghi, Gabriele Dati, et al.Neuropathology and Applied Neurobiology|June 15, 2023
microRNA-based predictor for diagnosis of frontotemporal dementiaIddo Magen, Nancy-Sarah Yacovzada, Jason D Warren, et al.Brain : a Journal of Neurology|May 18, 2010
Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degenerationAgnes L Nishimura, Vera Zupunski, Claire Troakes, et al.Nature Neuroscience|October 29, 2021
Circulating miR-181 is a prognostic biomarker for amyotrophic lateral sclerosisIddo Magen, Nancy Sarah Yacovzada, Eran Yanowski, et al.JCI Insight|July 8, 2024
Protein biomarker signature in patients with spinal and bulbar muscular atrophyAndrew Tn Tebbenkamp, Spencer B Huggett, Vittoria Lombardi, et al.Journal of Molecular Neuroscience : MN|January 9, 2016
Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular AtrophyDavide Pareyson, Pietro Fratta, Pierre-François Pradat, et al.Neurology|May 13, 2014
Correlation of clinical and molecular features in spinal bulbar muscular atrophyPietro Fratta, Niranjanan Nirmalananthan, Luc Masset, et al.Scientific Reports|June 11, 2021
NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular diseaseAlan Mejia Maza, Seth Jarvis, Weaverly Colleen Lee, et al.Pageof 12