Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort von Cumming, Sarah A, Jimenez-Moreno, Cecilia, Okkersen, Kees, Wenninger, Stephan, Daidj, Ferroudja, Hogarth, Fiona, Littleford, Roberta, Gorman, Gráinne, Bassez, Guillaume, Schoser, Benedikt, Lochmüller, Hanns, van Engelen, Baziel G.M, Monckton, Darren G

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CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing von van Agtmaal, Ellen L., André, Laurène M., Willemse, Marieke, Cumming, Sarah A., van Kessel, Ingeborg D.G., van den Broek, Walther J.A.A., Gourdon, Geneviève, Furling, Denis, Mouly, Vincent, Monckton, Darren G., Wansink, Derick G., Wieringa, Bé

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A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes von Ciosi, Marc, Maxwell, Alastair, Cumming, Sarah A., Hensman Moss, Davina J., Alshammari, Asma M., Flower, Michael D., Durr, Alexandra, Leavitt, Blair R., Roos, Raymund A.C., Holmans, Peter, Jones, Lesley, Langbehn, Douglas R., Kwak, Seung, Tabrizi, Sarah J., Monckton, Darren G.

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Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial von Kurkiewicz, Adam, Cooper, Anneli, McIlwaine, Emily, Cumming, Sarah A, Adam, Berit, Krahe, Ralf, Puymirat, Jack, Schoser, Benedikt, Timchenko, Lubov, Ashizawa, Tetsuo, Thornton, Charles A, Rogers, Simon, McClure, John D, Monckton, Darren G

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De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1 von Cumming, Sarah A, Hamilton, Mark J, Robb, Yvonne, Gregory, Helen, McWilliam, Catherine, Cooper, Anneli, Adam, Berit, McGhie, Josephine, Hamilton, Graham, Herzyk, Pawel, Tschannen, Michael R, Worthey, Elizabeth, Petty, Richard, Ballantyne, Bob, Warner, Jon, Farrugia, Maria Elena, Longman, Cheryl, Monckton, Darren G

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Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI von Heskamp, Linda, van Nimwegen, Marlies, Ploegmakers, Marieke J, Bassez, Guillaume, Deux, Jean-Francois, Cumming, Sarah A, Monckton, Darren G, van Engelen, Baziel G.M, Heerschap, Arend

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White matter microstructure relates to motor outcomes in myotonic dystrophy type 1 independently of disease duration and genetic burden von Koscik, Timothy R., van der Plas, Ellen, Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Magnotta, Vincent, Shields, Richard K., Nopoulos, Peggy C.

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Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype von Ruiz de Sabando, Ainara, Ciosi, Marc, Galbete, Arkaitz, Cumming, Sarah A, Monckton, Darren G, Ramos-Arroyo, Maria A

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Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1 von Miller, Jacob N., Kruger, Alison, Moser, David J., Gutmann, Laurie, van der Plas, Ellen, Koscik, Timothy R., Cumming, Sarah A., Monckton, Darren G., Nopoulos, Peggy C.

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Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells von Raaijmakers, Renée H L, Ausems, C Rosanne M, Willemse, Marieke, Cumming, Sarah A, van Engelen, Baziel G M, Monckton, Darren G, van Bokhoven, Hans, Wansink, Derick G

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A DM1 patient with CCG variant repeats: Reaching the diagnosis von Cumming, Sarah A., Oliwa, Agata, Stevens, Gillian, Ballantyne, Bob, Mann, Cameron, Razvi, Saif, Longman, Cheryl, Monckton, Darren G., Farrugia, Maria Elena

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Longitudinal changes in white matter as measured with diffusion tensor imaging in adult-onset myotonic dystrophy type 1 von Koscik, Timothy R., van der Plas, Ellen, Long, Jeffrey D., Cross, Stephen, Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Shields, Richard K., Magnotta, Vincent, Nopoulos, Peggy C.

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Blood-Based Markers of Neuronal Injury in Adult-Onset Myotonic Dystrophy Type 1 von van der Plas, Ellen, Long, Jeffrey D, Koscik, Timothy R, Magnotta, Vincent, Monckton, Darren G, Cumming, Sarah A, Gottschalk, Amy C, Hefti, Marco, Gutmann, Laurie, Nopoulos, Peggy C

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Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1 von Hamilton, Mark J, Atalaia, Antonio, McLean, John, Cumming, Sarah A, Evans, Jonathan J, Ballantyne, Bob, Jampana, Ravi, The Scottish Myotonic Dystrophy Consortium, Longman, Cheryl, Livingston, Eric, van der Plas, Ellen, Koscik, Timothy, Nopoulos, Peggy, Farrugia, Maria Elena, Monckton, Darren G

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Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1 von Wenninger, Stephan, Cumming, Sarah A., Gutschmidt, Kristina, Okkersen, Kees, Jimenez-Moreno, Aura Cecilia, Daidj, Ferroudja, Lochmüller, Hanns, Hogarth, Fiona, Knoop, Hans, Bassez, Guillaume, Monckton, Darren G., van Engelen, Baziel G.M., Schoser, Benedikt

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A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype von Ballester‐Lopez, Alfonsina, Koehorst, Emma, Almendrote, Miriam, Martínez‐Piñeiro, Alicia, Lucente, Giuseppe, Linares‐Pardo, Ian, Núñez‐Manchón, Judit, Guanyabens, Nicolau, Cano, Antoni, Lucia, Alejandro, Overend, Gayle, Cumming, Sarah A., Monckton, Darren G., Casadevall, Teresa, Isern, Irina, Sánchez‐Ojanguren, Josep, Planas, Albert, Rodríguez‐Palmero, Agustí, Monlleó‐Neila, Laura, Pintos‐Morell, Guillem, Ramos‐Fransi, Alba, Coll‐Cantí, Jaume, Nogales‐Gadea, Gisela

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Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1 von Miller, Jacob N., van der Plas, Ellen, Hamilton, Mark, Koscik, Timothy R., Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Nopoulos, Peggy C.

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Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1 von van der Plas, Ellen, Koscik, Timothy R., Magnotta, Vincent, Cumming, Sarah A., Monckton, Darren, Gutmann, Laurie, Nopoulos, Peggy

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Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight von Hamilton, Mark J, McLean, John, Cumming, Sarah, Ballantyne, Bob, McGhie, Josephine, Jampana, Ravi, Longman, Cheryl, Evans, Jonathan J, Monckton, Darren G, Farrugia, Maria Elena

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Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1 von Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Núñez-Manchón, Judit, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Puente, Carles Puente, Lucia, Alejandro, Monckton, Darren G., Cumming, Sarah A., Pintos-Morell, Guillem, Coll-Cantí, Jaume, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Nogales-Gadea, Gisela

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