The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington’s Disease: A Historical Perspective

por Monckton, Darren G.
Publicado 2021

Correlation of Inter-Locus Polyglutamine Toxicity with CAG•CTG Triplet Repeat Expandability and Flanking Genomic DNA GC Content

por Nestor, Colm E., Monckton, Darren G.
Publicado 2011

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR

por Gomes-Pereira, Mário, Monckton, Darren G.
Publicado 2017

Chronic Exposure to Cadmium and Antioxidants Does Not Affect the Dynamics of Expanded CAG•CTG Trinucleotide Repeats in a Mouse Cell Culture System of Unstable DNA

por Gomes-Pereira, Mário, Monckton, Darren G.
Publicado 2021

A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry

por Dawson, Jessica, Baine-Savanhu, Fiona K., Ciosi, Marc, Maxwell, Alastair, Monckton, Darren G., Krause, Amanda
Publicado 2022

Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion

por Gomes-Pereira, Mário, Hilley, James D., Morales, Fernando, Adam, Berit, James, Helen E., Monckton, Darren G.
Publicado 2014

DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1

por Légaré, Cécilia, Overend, Gayle, Guay, Simon-Pierre, Monckton, Darren G., Mathieu, Jean, Gagnon, Cynthia, Bouchard, Luigi
Publicado 2019

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)

por DiPaolo, Giovanni, Jimenez-Moreno, Cecilia, Nikolenko, Nikoletta, Atalaia, Antonio, Monckton, Darren G., Guglieri, Michela, Lochmüller, Hanns
Publicado 2017

Disease burden of myotonic dystrophy type 1

por Landfeldt, Erik, Nikolenko, Nikoletta, Jimenez-Moreno, Cecilia, Cumming, Sarah, Monckton, Darren G., Gorman, Grainne, Turner, Chris, Lochmüller, Hanns
Publicado 2019

Analysis of mutational dynamics at the DMPK (CTG)(n) locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

por Corrales, Eyleen, Vásquez, Melissa, Zhang, Baili, Santamaría-Ulloa, Carolina, Cuenca, Patricia, Krahe, Ralf, Monckton, Darren G., Morales, Fernando
Publicado 2019

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

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1

por Landfeldt, Erik, Nikolenko, Nikoletta, Jimenez-Moreno, Cecilia, Cumming, Sarah, Monckton, Darren G., Faber, Catharina G., Merkies, Ingemar S. J., Gorman, Grainne, Turner, Chris, Lochmüller, Hanns
Publicado 2020

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease

por Ruiz de Sabando, Ainara, Urrutia Lafuente, Edurne, Galbete, Arkaitz, Ciosi, Marc, García Amigot, Fermín, García Solaesa, Virginia, Monckton, Darren G, Ramos-Arroyo, Maria A
Publicado 2022

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

por Flower, Michael, Lomeikaite, Vilija, Ciosi, Marc, Cumming, Sarah, Morales, Fernando, Lo, Kitty, Hensman Moss, Davina, Jones, Lesley, Holmans, Peter, Monckton, Darren G, Tabrizi, Sarah J
Publicado 2019

Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight

por Hamilton, Mark J., McLean, John, Cumming, Sarah, Ballantyne, Bob, McGhie, Josephine, Jampana, Ravi, Longman, Cheryl, Evans, Jonathan J., Monckton, Darren G., Farrugia, Maria Elena
Publicado 2018

Structural white matter networks in myotonic dystrophy type 1

por van Dorst, Maud, Okkersen, Kees, Kessels, Roy P.C., Meijer, Frederick J.A., Monckton, Darren G., van Engelen, Baziel G.M., Tuladhar, Anil M., Raaphorst, Joost
Publicado 2018

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