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Ebiomedicine|October 15, 2019
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomesMarc Ciosi, Alastair Maxwell, Sarah A Cumming, et al.Genes|November 11, 2020
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, et al.Journal of Neurology|April 12, 2017
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical researchLibby Wood, Isabell Cordts, Antonio Atalaia, et al.Journal of Huntington'S Disease|June 28, 2021
Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's DiseaseEun Pyo Hong, Michael J Chao, Thomas Massey, et al.Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.Plos One|March 22, 2017
Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up studyMark J Hamilton, Yvonne Robb, Sarah Cumming, et al.The Lancet. Neurology|June 24, 2018
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trialKees Okkersen, Cecilia Jimenez-Moreno, Stephan Wenninger, et al.Plos One|April 7, 2017
Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up studyMark J Hamilton, Yvonne Robb, Sarah Cumming, et al.American Journal of Human Genetics|June 27, 2020
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier EffectsKyung-Hee Kim, Eun Pyo Hong, Jun Wan Shin, et al.Genes|July 11, 2020
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, et al.Pageof 10