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Sarah A Cumming

Showing results (21-30 of 32) with videos related to

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Journal of Huntington'S Disease|February 13, 2021
Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length VariationMarc Ciosi, Sarah A Cumming, Afroditi Chatzi, et al.
Neurology|August 10, 2019
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohortSarah A Cumming, Cecilia Jimenez-Moreno, Kees Okkersen, et al.
Plos One|April 15, 2020
Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trialAdam Kurkiewicz, Anneli Cooper, Emily McIlwaine, et al.
Neurology. Genetics|April 22, 2021
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A Cumming, Kristina Gutschmidt, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 28, 2017
CRISPR/Cas9-Induced (CTG⋅CAG)<sub>n</sub> Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome EditingEllen L van Agtmaal, Laurène M André, Marieke Willemse, et al.
Neuromuscular Disorders : NMD|April 1, 2022
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1Mark J Hamilton, Antonio Atalaia, John McLean, et al.
European Journal of Human Genetics : EJHG|July 4, 2018
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1Sarah A Cumming, Mark J Hamilton, Yvonne Robb, et al.
Ebiomedicine|October 15, 2019
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomesMarc Ciosi, Alastair Maxwell, Sarah A Cumming, et al.
Genes|November 11, 2020
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, et al.
Genes|July 11, 2020
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Journal of Huntington'S Disease|February 13, 2021
Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length VariationMarc Ciosi, Sarah A Cumming, Afroditi Chatzi, et al.
Neurology|August 10, 2019
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohortSarah A Cumming, Cecilia Jimenez-Moreno, Kees Okkersen, et al.
Plos One|April 15, 2020
Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trialAdam Kurkiewicz, Anneli Cooper, Emily McIlwaine, et al.
Neurology. Genetics|April 22, 2021
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A Cumming, Kristina Gutschmidt, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 28, 2017
CRISPR/Cas9-Induced (CTG⋅CAG)<sub>n</sub> Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome EditingEllen L van Agtmaal, Laurène M André, Marieke Willemse, et al.
Neuromuscular Disorders : NMD|April 1, 2022
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1Mark J Hamilton, Antonio Atalaia, John McLean, et al.
European Journal of Human Genetics : EJHG|July 4, 2018
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1Sarah A Cumming, Mark J Hamilton, Yvonne Robb, et al.
Ebiomedicine|October 15, 2019
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomesMarc Ciosi, Alastair Maxwell, Sarah A Cumming, et al.
Genes|November 11, 2020
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, et al.
Genes|July 11, 2020
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, et al.
Pageof 4