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Journal of Neurology|February 8, 2017
Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)Giovanni DiPaolo, Cecilia Jimenez-Moreno, Nikoletta Nikolenko, et al.Nucleic Acids Research|May 27, 2014
Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansionMário Gomes-Pereira, James D Hilley, Fernando Morales, et al.Journal of Neuromuscular Diseases|March 14, 2026
Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1Thomas D Hoekman, Nehaa Kp Ponraj, Diana Shabshai, et al.Neurology|August 4, 2017
Brain imaging in myotonic dystrophy type 1: A systematic reviewKees Okkersen, Darren G Monckton, Nhu Le, et al.Human Genetics|October 7, 2024
Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph diseaseAhmed M Sidky, Ana Rosa Vieira Melo, Teresa T Kay, et al.Muscle & Nerve|April 13, 2011
Survival and CTG repeat expansion in adults with myotonic dystrophy type 1William J Groh, Miriam R Groh, Changyu Shen, et al.Nature Reviews. Neurology|November 13, 2025
Huntington disease: somatic expansion, pathobiology and therapeuticsJasmine Donaldson, Davina Hensman Moss, Marc Ciosi, et al.Plos One|May 4, 2019
Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1Eyleen Corrales, Melissa Vásquez, Baili Zhang, et al.European Journal of Human Genetics : EJHG|March 3, 2024
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotypeAinara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, et al.Journal of Neurology|February 22, 2019
Disease burden of myotonic dystrophy type 1Erik Landfeldt, Nikoletta Nikolenko, Cecilia Jimenez-Moreno, et al.Pageof 10