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Annals of the Rheumatic Diseases|May 2, 2023
Transcriptional derepression of CHD4/NuRD-regulated genes in the muscle of patients with dermatomyositis and anti-Mi2 autoantibodiesIago Pinal-Fernandez, Jose Cesar Milisenda, Katherine Pak, et al.Annals of Neurology|October 7, 2022
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal StudyVera Fridman, Stefan Sillau, Jacob Bockhorst, et al.Science Translational Medicine|September 14, 2022
Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteinsJunli Gao, Quinlan T Mewborne, Amandeep Girdhar, et al.Immunity|June 1, 2022
Phage display of environmental protein toxins and virulence factors reveals the prevalence, persistence, and genetics of antibody responsesJulia W Angkeow, Daniel R Monaco, Athena Chen, et al.Cell|January 22, 2021
p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)Maya Maor-Nof, Zohar Shipony, Rodrigo Lopez-Gonzalez, et al.Annals of Neurology|February 2, 2019
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1AFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, et al.Annals of the Rheumatic Diseases|February 21, 2023
Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor induced myositisIago Pinal-Fernandez, Angela Quintana, Jose Cesar Milisenda, et al.Annals of the Rheumatic Diseases|June 20, 2024
Pathological autoantibody internalisation in myositisIago Pinal-Fernandez, Sandra Muñoz-Braceras, Maria Casal-Dominguez, et al.Pageof 12