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Plos One|April 15, 2020
Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trialAdam Kurkiewicz, Anneli Cooper, Emily McIlwaine, et al.Neurology|August 10, 2019
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohortSarah A Cumming, Cecilia Jimenez-Moreno, Kees Okkersen, et al.Neurology. Genetics|April 22, 2021
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A Cumming, Kristina Gutschmidt, et al.Human Molecular Genetics|December 20, 2002
Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic miceRandell T Libby, Darren G Monckton, Ying-Hui Fu, et al.Human Molecular Genetics|May 19, 2012
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severityFernando Morales, Jillian M Couto, Catherine F Higham, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 26, 2025
Cerebrospinal Fluid Proenkephalin Predicts Striatal Atrophy Decades before Clinical Motor Diagnosis in Huntington's DiseaseMena Farag, Michael J Murphy, Nicola Z Hobbs, et al.Journal of Neuromuscular Diseases|July 16, 2019
Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG RepeatsEllen van der Plas, Mark J Hamilton, Jacob N Miller, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|January 28, 2017
CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome EditingEllen L van Agtmaal, Laurène M André, Marieke Willemse, et al.European Journal of Human Genetics : EJHG|July 4, 2018
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1Sarah A Cumming, Mark J Hamilton, Yvonne Robb, et al.Neuromuscular Disorders : NMD|April 1, 2022
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1Mark J Hamilton, Antonio Atalaia, John McLean, et al.Pageof 10