White matter microstructure relates to motor outcomes in myotonic dystrophy type 1 independently of disease duration and genetic burden

by Timothy R. Koscik, Ellen van der Plas, Laurie Gutmann, Sarah A. Cumming, Darren G. Monckton, Vincent Magnotta, Richard K. Shields, Peggy C. Nopoulos
Published 2021-03-01

Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1

by Jacob N. Miller, Alison Kruger, David J. Moser, Laurie Gutmann, Ellen van der Plas, Timothy R. Koscik, Sarah A. Cumming, Darren G. Monckton, Peggy C. Nopoulos, Peggy C. Nopoulos, Peggy C. Nopoulos
Published 2021-07-01

Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.

by Adam Kurkiewicz, Anneli Cooper, Emily McIlwaine, Sarah A Cumming, Berit Adam, Ralf Krahe, Jack Puymirat, Benedikt Schoser, Lubov Timchenko, Tetsuo Ashizawa, Charles A Thornton, Simon Rogers, John D McClure, Darren G Monckton
Published 2020-01-01

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

by Marc Ciosi, Alastair Maxwell, Sarah A. Cumming, Davina J. Hensman Moss, Asma M. Alshammari, Michael D. Flower, Alexandra Durr, Blair R. Leavitt, Raymund A.C. Roos, Peter Holmans, Lesley Jones, Douglas R. Langbehn, Seung Kwak, Sarah J. Tabrizi, Darren G. Monckton
Published 2019-10-01

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

by Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Judit Núñez-Manchón, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Carles Puente, Alejandro Lucia, Darren G. Monckton, Sarah A. Cumming, Guillem Pintos-Morell, Jaume Coll-Cantí, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea
Published 2020-11-01

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

by Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, Judit Núñez-Manchón, Guillem Pintos-Morell, Jaume Coll-Cantí, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Jonathan J. Magaña, Nadia M. Murillo-Melo, Alejandro Lucia, Darren G. Monckton, Sarah A. Cumming, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea
Published 2020-07-01