Publications by authors named "Sarah Cumming"

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Antisense oligonucleotide-mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC-derived striatal neurons.
Emma L Bunting, Jasmine Donaldson, Sarah A Cumming, Jessica Olive, Elizabeth Broom

Sci Transl Med· February 2025

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

Stem Cell Res Ther· September 2024

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Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A Cumming,

Eur J Hum Genet· July 2024

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Longitudinal changes in white matter as measured with diffusion tensor imaging in adult-onset myotonic dystrophy type 1.
Timothy R Koscik, Ellen van der Plas, Jeffrey D Long, Stephen Cross, Laurie Gutmann, Sarah A Cumming

Neuromuscul Disord· August 2023

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Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.
Agata Oliwa, Clarissa Hocking, Mark J Hamilton, John McLean, Sarah Cumming

Neuromuscul Disord· December 2022

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Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1.
Mark J Hamilton, Antonio Atalaia, John McLean, Sarah A Cumming, Jonathan J Evans

Neuromuscul Disord· May 2022

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Blood-Based Markers of Neuronal Injury in Adult-Onset Myotonic Dystrophy Type 1.
Ellen van der Plas, Jeffrey D Long, Timothy R Koscik, Vincent Magnotta, Darren G Monckton, Sarah A Cumming

Front Neurol· January 2022

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Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation.
Marc Ciosi, Sarah A Cumming, Afroditi Chatzi, Eloise Larson, William Tottey

J Huntingtons Dis· November 2021

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Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1.
Jacob N Miller, Alison Kruger, David J Moser, Laurie Gutmann, Ellen van der Plas, Sarah A Cumming

Front Neurol· July 2021

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Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1.
Stephan Wenninger, Sarah A Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno

Neurol Genet· April 2021

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

Neurol Genet· April 2021

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A DM1 patient with CCG variant repeats: Reaching the diagnosis.
Sarah A Cumming, Agata Oliwa, Gillian Stevens, Bob Ballantyne, Cameron Mann

Neuromuscul Disord· March 2021

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

Sci Rep· March 2021

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Change over time in ability to perform activities of daily living in myotonic dystrophy type 1.
Erik Landfeldt, Nikoletta Nikolenko, Cecilia Jimenez-Moreno, Sarah Cumming, Darren G Monckton

J Neurol· November 2020

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Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Judit Núñez-Manchón, Miriam Almendrote, Sarah A Cumming

Genes (Basel)· November 2020

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

Neurol Genet· October 2020

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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.
Adam Kurkiewicz, Anneli Cooper, Emily McIlwaine, Sarah A Cumming, Berit Adam

PLoS One· July 2020

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The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.
Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, Judit Núñez-Manchón, Guillem Pintos-Morell, Sarah A Cumming

Genes (Basel)· July 2020

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Activities of daily living in myotonic dystrophy type 1.
Erik Landfeldt, Nikoletta Nikolenko, Cecilia Jimenez-Moreno, Sarah Cumming, Darren G Monckton

Acta Neurol Scand· May 2020

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Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats.
Ellen van der Plas, Mark J Hamilton, Jacob N Miller, Timothy R Koscik, Jeffrey D Long, Sarah Cumming

J Neuromuscul Dis· February 2020

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A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Alfonsina Ballester-Lopez, Emma Koehorst, Miriam Almendrote, Alicia Martínez-Piñeiro, Giuseppe Lucente, Sarah A Cumming

Hum Mutat· February 2020

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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.
Marc Ciosi, Alastair Maxwell, Sarah A Cumming, Davina J Hensman Moss, Asma M Alshammari

EBioMedicine· October 2019

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Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.
Sarah A Cumming, Cecilia Jimenez-Moreno, Kees Okkersen, Stephan Wenninger, Ferroudja Daidj

Neurology· September 2019

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Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI.
Linda Heskamp, Marlies van Nimwegen, Marieke J Ploegmakers, Guillaume Bassez, Jean-Francois Deux, Sarah A Cumming

Neurology· June 2019

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MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1.
Michael Flower, Vilija Lomeikaite, Marc Ciosi, Sarah Cumming, Fernando Morales

Brain· June 2019

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