Dr Sarah Cumming

  • Research Associate (Institute of Molecular Cell & Systems Biology)

telephone: 01413306229
email: Sarah.Cumming@glasgow.ac.uk

Publications

List by: Type | Date

Jump to: 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2012 | 2010 | 2009 | 2004
Number of items: 23.

2020

Landfeldt, E., Nikolenko, N., Jimenez‑Moreno, C., Cumming, S., Monckton, D. , Faber, C. G., Merkies, I. S.J., Gorman8, G., Turner, C. and Lochmüller, H. (2020) Change over time in ability to perform activities of daily living in myotonic dystrophy type 1. Journal of Neurology, (doi: 10.1007/s00415-020-09970-6) (PMID:32542526) (Early Online Publication)

Kurkiewicz, A. et al. (2020) Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial. PLoS ONE, 15(4), e0231000. (doi: 10.1371/journal.pone.0231000) (PMID:32287265) (PMCID:PMC7156058)

Landfeldt, E., Nikolenko, N., Jimenez‐Moreno, C., Cumming, S., Monckton, D. G. , Faber, C. G., Merkies, I. S.J., Gorman, G., Turner, C. and Lochmüller, H. (2020) Activities of daily living in myotonic dystrophy type 1. Acta Neurologica Scandinavica, 141(5), pp. 380-387. (doi: 10.1111/ane.13215) (PMID:31889295)

Ballester‐Lopez, A. et al. (2020) A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype. Human Mutation, 41(2), pp. 420-431. (doi: 10.1002/humu.23932) (PMID:31608518)

2019

Ciosi, M. et al. (2019) A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes. EBioMedicine, 48, pp. 568-580. (doi: 10.1016/j.ebiom.2019.09.020) (PMID:31607598) (PMCID:PMC6838430)

Cumming, S. A. et al. (2019) Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. Neurology, 93(10), e995-e1009. (doi: 10.1212/WNL.0000000000008056) (PMID:31395669) (PMCID:PMC6745735)

van der Plas, E. et al. (2019) Brain structural features of myotonic dystrophy type 1 and their relationship with CTG repeats. Journal of Neuromuscular Diseases, 6(3), pp. 321-332. (doi: 10.3233/jnd-190397) (PMID:31306140)

Flower, M. et al. (2019) MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. Brain, 142(7), pp. 1876-1886. (doi: 10.1093/brain/awz115) (PMID:31216018) (PMCID:PMC6598626)

Heskamp, L., van Nimwegen, M., Ploegmakers, M. J., Bassez, G., Deux, J.-F., Cumming, S. A., Monckton, D. G. , van Engelen, B. G.M. and Heerschap, A. (2019) Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI. Neurology, 92(24), e2803-e2814. (doi: 10.1212/WNL.0000000000007648) (PMID:31118244) (PMCID:PMC6598795)

Landfeldt, E., Nikolenko, N., Jimenez-Moreno, C., Cumming, S., Monckton, D. G. , Gorman, G., Turner, C. and Lochmüller, H. (2019) Disease burden of myotonic dystrophy type 1. Journal of Neurology, 266(4), pp. 998-1006. (doi: 10.1007/s00415-019-09228-w) (PMID:30788616) (PMCID:PMC6420885)

2018

Cumming, S. A. et al. (2018) De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. European Journal of Human Genetics, 26(11), pp. 1635-1647. (doi: 10.1038/s41431-018-0156-9) (PMID:29967337) (PMCID:PMC6189127)

Hamilton, M. J., McLean, J., Cumming, S., Ballantyne, B., McGhie, J., Jampana, R., Longman, C., Evans, J. J. , Monckton, D. G. and Farrugia, M. E. (2018) Outcome measures for central nervous system evaluation in myotonic dystrophy type 1 may be confounded by deficits in motor function or insight. Frontiers in Neurology, 9, 780. (doi: 10.3389/fneur.2018.00780) (PMID:30333784) (PMCID:PMC6176265)

Ciosi, M. et al. (2018) Glutamine Codon Usage and Somatic Mosaicism of the HTT CAG Repeat Are Modifiers of Huntington Disease Severity. EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.

Okkersen, K. et al. (2018) Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurology, 17(8), pp. 671-680. (doi: 10.1016/S1474-4422(18)30203-5) (PMID:29934199)

2017

Hamilton, M. et al. (2017) Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: a multicentre cohort follow-up study. PLoS ONE, 12(3), e0174166. (doi: 10.1371/journal.pone.0174166) (PMID:28323905) (PMCID:PMC5360313)

van Agtmaal, E. L. et al. (2017) CRISPR/Cas9-induced (CTG⋅CAG)n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing. Molecular Therapy, 25(1), pp. 24-43. (doi: 10.1016/j.ymthe.2016.10.014)

2016

Monckton, D. , Ciosi, M. , Mubarak, A., Cumming, S., Hamilton, G., Maxwell, A. , The International-Venezuela Collaborative Research Group, -, The Scottish Myotonic Dystrophy Genetic Variation Consortium, - and The Track-On HD Research Team, - (2016) Cryptic Polyglutamine Repeat Sequence Variation and Somatic Instability in Huntington’s Disease: Drivers of Pathology? European Huntington's Disease Network 9th Plenary Meeting, The Hague, The Netherlands, 16-18 Sep 2016. (doi:10.1136/jnnp-2016-314597.2)

2015

van Engelen, B., The OPTIMISTIC Consortium, and , (2015) Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial. Trials, 16(1), 224. (doi: 10.1186/s13063-015-0737-7) (PMID:26002596) (PMCID:PMC4449962)

2012

Jiwaji, M. et al. (2012) Unique reporter-based sensor platforms to monitor signalling in cells. PLoS ONE, 7(11), e50521. (doi: 10.1371/journal.pone.0050521)

2010

Sandison, M. E., Cumming, S. A., Kolch, W. and Pitt, A. R. (2010) On-chip immunoprecipitation for protein purification. Lab on a Chip, 10(20), pp. 2805-2813. (doi: 10.1039/C005295G)

Gilroy, K.L., Cumming, S.A. and Pitt, A.R. (2010) A simple, sensitive and selective quantum-dot-based western blot method for the simultaneous detection of multiple targets from cell lysates. Analytical and Bioanalytical Chemistry, 398(1), pp. 547-554. (doi: 10.1007/s00216-010-3908-0)

2009

Cumming, S.A., Chuen-Im, T., Zhang, J. and Graham, S.V. (2009) The RNA stability regulator HuR regulates L1 protein expression in vivo in differentiating cervical epithelial cells. Virology, 383(1), pp. 142-149. (doi: 10.1016/j.virol.2008.%U 10.003)

2004

McPhillips, M. G., Veerapraditsin, T., Cumming, S. A., Karali, D., Milligan, S. G., Boner, W. , Morgan, I. M. and Graham, S. V. (2004) SF2/ASF binds the human papillomavirus type 16 late RNA control element and is regulated during differentiation of virus-infected epithelial cells. Journal of Virology, 78, pp. 10598-10605. (doi: 10.1128/JVI.78.19.10598-10605.2004) (PMID:15367627) (PMCID:PMC516382)

This list was generated on Wed Jul 8 20:24:00 2020 BST.
Number of items: 23.

Articles

Landfeldt, E., Nikolenko, N., Jimenez‑Moreno, C., Cumming, S., Monckton, D. , Faber, C. G., Merkies, I. S.J., Gorman8, G., Turner, C. and Lochmüller, H. (2020) Change over time in ability to perform activities of daily living in myotonic dystrophy type 1. Journal of Neurology, (doi: 10.1007/s00415-020-09970-6) (PMID:32542526) (Early Online Publication)

Kurkiewicz, A. et al. (2020) Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial. PLoS ONE, 15(4), e0231000. (doi: 10.1371/journal.pone.0231000) (PMID:32287265) (PMCID:PMC7156058)

Landfeldt, E., Nikolenko, N., Jimenez‐Moreno, C., Cumming, S., Monckton, D. G. , Faber, C. G., Merkies, I. S.J., Gorman, G., Turner, C. and Lochmüller, H. (2020) Activities of daily living in myotonic dystrophy type 1. Acta Neurologica Scandinavica, 141(5), pp. 380-387. (doi: 10.1111/ane.13215) (PMID:31889295)

Ballester‐Lopez, A. et al. (2020) A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype. Human Mutation, 41(2), pp. 420-431. (doi: 10.1002/humu.23932) (PMID:31608518)

Ciosi, M. et al. (2019) A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes. EBioMedicine, 48, pp. 568-580. (doi: 10.1016/j.ebiom.2019.09.020) (PMID:31607598) (PMCID:PMC6838430)

Cumming, S. A. et al. (2019) Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. Neurology, 93(10), e995-e1009. (doi: 10.1212/WNL.0000000000008056) (PMID:31395669) (PMCID:PMC6745735)

van der Plas, E. et al. (2019) Brain structural features of myotonic dystrophy type 1 and their relationship with CTG repeats. Journal of Neuromuscular Diseases, 6(3), pp. 321-332. (doi: 10.3233/jnd-190397) (PMID:31306140)

Flower, M. et al. (2019) MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. Brain, 142(7), pp. 1876-1886. (doi: 10.1093/brain/awz115) (PMID:31216018) (PMCID:PMC6598626)

Heskamp, L., van Nimwegen, M., Ploegmakers, M. J., Bassez, G., Deux, J.-F., Cumming, S. A., Monckton, D. G. , van Engelen, B. G.M. and Heerschap, A. (2019) Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI. Neurology, 92(24), e2803-e2814. (doi: 10.1212/WNL.0000000000007648) (PMID:31118244) (PMCID:PMC6598795)

Landfeldt, E., Nikolenko, N., Jimenez-Moreno, C., Cumming, S., Monckton, D. G. , Gorman, G., Turner, C. and Lochmüller, H. (2019) Disease burden of myotonic dystrophy type 1. Journal of Neurology, 266(4), pp. 998-1006. (doi: 10.1007/s00415-019-09228-w) (PMID:30788616) (PMCID:PMC6420885)

Cumming, S. A. et al. (2018) De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. European Journal of Human Genetics, 26(11), pp. 1635-1647. (doi: 10.1038/s41431-018-0156-9) (PMID:29967337) (PMCID:PMC6189127)

Hamilton, M. J., McLean, J., Cumming, S., Ballantyne, B., McGhie, J., Jampana, R., Longman, C., Evans, J. J. , Monckton, D. G. and Farrugia, M. E. (2018) Outcome measures for central nervous system evaluation in myotonic dystrophy type 1 may be confounded by deficits in motor function or insight. Frontiers in Neurology, 9, 780. (doi: 10.3389/fneur.2018.00780) (PMID:30333784) (PMCID:PMC6176265)

Okkersen, K. et al. (2018) Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurology, 17(8), pp. 671-680. (doi: 10.1016/S1474-4422(18)30203-5) (PMID:29934199)

Hamilton, M. et al. (2017) Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: a multicentre cohort follow-up study. PLoS ONE, 12(3), e0174166. (doi: 10.1371/journal.pone.0174166) (PMID:28323905) (PMCID:PMC5360313)

van Agtmaal, E. L. et al. (2017) CRISPR/Cas9-induced (CTG⋅CAG)n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing. Molecular Therapy, 25(1), pp. 24-43. (doi: 10.1016/j.ymthe.2016.10.014)

van Engelen, B., The OPTIMISTIC Consortium, and , (2015) Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial. Trials, 16(1), 224. (doi: 10.1186/s13063-015-0737-7) (PMID:26002596) (PMCID:PMC4449962)

Jiwaji, M. et al. (2012) Unique reporter-based sensor platforms to monitor signalling in cells. PLoS ONE, 7(11), e50521. (doi: 10.1371/journal.pone.0050521)

Sandison, M. E., Cumming, S. A., Kolch, W. and Pitt, A. R. (2010) On-chip immunoprecipitation for protein purification. Lab on a Chip, 10(20), pp. 2805-2813. (doi: 10.1039/C005295G)

Gilroy, K.L., Cumming, S.A. and Pitt, A.R. (2010) A simple, sensitive and selective quantum-dot-based western blot method for the simultaneous detection of multiple targets from cell lysates. Analytical and Bioanalytical Chemistry, 398(1), pp. 547-554. (doi: 10.1007/s00216-010-3908-0)

Cumming, S.A., Chuen-Im, T., Zhang, J. and Graham, S.V. (2009) The RNA stability regulator HuR regulates L1 protein expression in vivo in differentiating cervical epithelial cells. Virology, 383(1), pp. 142-149. (doi: 10.1016/j.virol.2008.%U 10.003)

McPhillips, M. G., Veerapraditsin, T., Cumming, S. A., Karali, D., Milligan, S. G., Boner, W. , Morgan, I. M. and Graham, S. V. (2004) SF2/ASF binds the human papillomavirus type 16 late RNA control element and is regulated during differentiation of virus-infected epithelial cells. Journal of Virology, 78, pp. 10598-10605. (doi: 10.1128/JVI.78.19.10598-10605.2004) (PMID:15367627) (PMCID:PMC516382)

Conference or Workshop Item

Ciosi, M. et al. (2018) Glutamine Codon Usage and Somatic Mosaicism of the HTT CAG Repeat Are Modifiers of Huntington Disease Severity. EHDN 2018 Plenary Meeting, Vienna, Austria, 14-16 Sep 2018.

Monckton, D. , Ciosi, M. , Mubarak, A., Cumming, S., Hamilton, G., Maxwell, A. , The International-Venezuela Collaborative Research Group, -, The Scottish Myotonic Dystrophy Genetic Variation Consortium, - and The Track-On HD Research Team, - (2016) Cryptic Polyglutamine Repeat Sequence Variation and Somatic Instability in Huntington’s Disease: Drivers of Pathology? European Huntington's Disease Network 9th Plenary Meeting, The Hague, The Netherlands, 16-18 Sep 2016. (doi:10.1136/jnnp-2016-314597.2)

This list was generated on Wed Jul 8 20:24:00 2020 BST.