Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1

por van der Plas, Ellen, Koscik, Timothy R., Magnotta, Vincent, Cumming, Sarah A., Monckton, Darren, Gutmann, Laurie, Nopoulos, Peggy
Publicado 2021

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1

por Miller, Jacob N., van der Plas, Ellen, Hamilton, Mark, Koscik, Timothy R., Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Nopoulos, Peggy C.
Publicado 2020

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

por Koscik, Timothy R., van der Plas, Ellen, Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Magnotta, Vincent, Shields, Richard K., Nopoulos, Peggy C.
Publicado 2021

Characterization of a heat resistant ß-glucosidase as a new reporter in cells and mice

por McCutcheon, Susan C, Jones, Ken, Cumming, Sarah A, Kemp, Richard, Ireland-Zecchini, Heather, Saunders, John C, Houghton, Carol A, Howard, Louise A, Winton, Douglas J
Publicado 2010

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI

por 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
Publicado 2019

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

por 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.
Publicado 2021

Blood-Based Markers of Neuronal Injury in Adult-Onset Myotonic Dystrophy Type 1

por 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.
Publicado 2022

Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation

por Ciosi, Marc, Cumming, Sarah A., Chatzi, Afroditi, Larson, Eloise, Tottey, William, Lomeikaite, Vilija, Hamilton, Graham, Wheeler, Vanessa C., Pinto, Ricardo Mouro, Kwak, Seung, Morton, A. Jennifer, Monckton, Darren G.
Publicado 2021

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

por 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.
Publicado 2019

Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1

por 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
Publicado 2021

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

por 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.
Publicado 2020

CRISPR/Cas9-Induced (CTG⋅CAG)(n) Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing

por 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
Publicado 2017

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

por 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.
Publicado 2019

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

por Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Núñez-Manchón, Judit, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Alonso, 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
Publicado 2020

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

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