Dr Sarah Cumming
- Research Associate (Molecular Biosciences)
telephone:
01413306229
email:
Sarah.Cumming@glasgow.ac.uk
School of Molecular Biosciences, Room 412 Level 4, Davidson Building, Glasgow G12 8QQ
Publications
2023
Morales, F. et al. (2023) Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1. Human Molecular Genetics, 32(4), pp. 621-631. (doi: 10.1093/hmg/ddac231) (PMID:36099027)
2022
Oliwa, A., Hocking, C., Hamilton, M. J., Mclean, J. , Cumming, S., Ballantyne, B., Jampana, R., Longman, C., Monckton, D. G. and Farrugia, M. E. (2022) Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1. Neuromuscular Disorders, 32(11-12), pp. 893-902. (doi: 10.1016/j.nmd.2022.09.005) (PMID:36207221)
Hamilton, M. J. et al. (2022) Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1. Neuromuscular Disorders, 32(5), pp. 377-389. (doi: 10.1016/j.nmd.2022.02.003) (PMID:35361525)
van der Plas, E., Long, J. D., Koscik, T. R., Magnotta, V., Monckton, D. G. , Cumming, S. A., Gottschalk, A. C., Hefti, M., Gutmann, L. and Nopoulos, P. C. (2022) Blood-based markers of neuronal injury in adult-onset myotonic dystrophy type 1. Frontiers in Neurology, 12, 791065. (doi: 10.3389/fneur.2021.791065) (PMID:35126292) (PMCID:PMC8810511)
2021
Miller, J. N., Kruger, A., Moser, D. J., Gutmann, L., van der Plas, E., Koscik, T. R., Cumming, S. A., Monckton, D. G. and Nopoulos, P. C. (2021) Cognitive deficits, apathy, and hypersomnolence represent the core brain symptoms of adult-onset myotonic dystrophy type 1. Frontiers in Neurology, 12, 700796. (doi: 10.3389/fneur.2021.700796) (PMID:34276551) (PMCID:PMC8280288)
van der Plas, E., Koscik, T. R., Magnotta, V., Cumming, S. A., Monckton, D. , Gutmann, L. and Nopoulos, P. (2021) Neurocognitive features of motor premanifest individuals with myotonic dystrophy type 1. Neurology Genetics, 7(2), e577. (doi: 10.1212/NXG.0000000000000577) (PMID:33912661) (PMCID:PMC8075572)
Wenninger, S. et al. (2021) Associations between variant repeat interruptions and clinical outcomes in myotonic dystrophy type 1. Neurology Genetics, 7(2), e572. (doi: 10.1212/NXG.0000000000000572) (PMID:33884298) (PMCID:PMC8054967)
Koscik, T. R., van der Plas, E., Gutmann, L., Cumming, S. A., Monckton, D. G. , Magnotta, V., Shields, R. K. and Nopoulos, P. C. (2021) White matter microstructure relates to motor outcomes in myotonic dystrophy type 1 independently of disease duration and genetic burden. Scientific Reports, 11, 4886. (doi: 10.1038/s41598-021-84520-2) (PMID:33649422) (PMCID:PMC7921687)
Cumming, S. A., Oliwa, A., Stevens, G., Ballantyne, B., Mann, C., Razvi, S., Longman, C., Monckton, D. G. and Farrugia, M. E. (2021) A DM1 patient with CCG variant repeats: reaching the diagnosis. Neuromuscular Disorders, 31(3), pp. 232-238. (doi: 10.1016/j.nmd.2020.12.005) (PMID:33546847)
Ciosi, M. et al. (2021) Approaches to sequence the HTT CAG repeat expansion and quantify repeat length variation. Journal of Huntington's Disease, 10(1), pp. 53-74. (doi: 10.3233/jhd-200433) (PMID:33579864) (PMCID:PMC7990409)
2020
Ballester-Lopez, A. et al. (2020) Preliminary findings on CTG expansion determination in different tissues from patients with myotonic dystrophy type 1. Genes, 11(11), 1321. (doi: 10.3390/genes11111321) (PMID:33171734) (PMCID:PMC7695006)
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, 267(11), pp. 3235-3242. (doi: 10.1007/s00415-020-09970-6) (PMID:32542526) (PMCID:PMC7578145)
Miller, J. N., van der Plas, E., Hamilton, M., Koscik, T. R., Gutmann, L., Cumming, S. A., Monckton, D. G. and Nopoulos, P. C. (2020) Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1. Neurology Genetics, 6(5), e504. (doi: 10.1212/NXG.0000000000000504) (PMID:32851192) (PMCID:PMC7428360)
Ballester-Lopez, A. et al. (2020) The need for establishing a universal CTG sizing method in myotonic dystrophy type 1. Genes, 11(7), 757. (doi: 10.3390/genes11070757) (PMID:32645888)
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)
Ciosi, M. , Cumming, S. A., Alshammari, A. M., Symeonidi, E., Herzyk, P. , Mcguinness, D. , Galbraith, J., Hamilton, G. and Monckton, D. G. (2018) Library preparation and MiSeq sequencing for the genotyping-by-sequencing of the Huntington disease HTT exon one trinucleotide repeat and the quantification of somatic mosaicism [Protocol]. Other. Springer Nature. (doi: 10.21203/rs.2.1581/v2).
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) (PMID:20714512)
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) (PMID:20582696)
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)
Articles
Morales, F. et al. (2023) Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1. Human Molecular Genetics, 32(4), pp. 621-631. (doi: 10.1093/hmg/ddac231) (PMID:36099027)
Oliwa, A., Hocking, C., Hamilton, M. J., Mclean, J. , Cumming, S., Ballantyne, B., Jampana, R., Longman, C., Monckton, D. G. and Farrugia, M. E. (2022) Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1. Neuromuscular Disorders, 32(11-12), pp. 893-902. (doi: 10.1016/j.nmd.2022.09.005) (PMID:36207221)
Hamilton, M. J. et al. (2022) Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1. Neuromuscular Disorders, 32(5), pp. 377-389. (doi: 10.1016/j.nmd.2022.02.003) (PMID:35361525)
van der Plas, E., Long, J. D., Koscik, T. R., Magnotta, V., Monckton, D. G. , Cumming, S. A., Gottschalk, A. C., Hefti, M., Gutmann, L. and Nopoulos, P. C. (2022) Blood-based markers of neuronal injury in adult-onset myotonic dystrophy type 1. Frontiers in Neurology, 12, 791065. (doi: 10.3389/fneur.2021.791065) (PMID:35126292) (PMCID:PMC8810511)
Miller, J. N., Kruger, A., Moser, D. J., Gutmann, L., van der Plas, E., Koscik, T. R., Cumming, S. A., Monckton, D. G. and Nopoulos, P. C. (2021) Cognitive deficits, apathy, and hypersomnolence represent the core brain symptoms of adult-onset myotonic dystrophy type 1. Frontiers in Neurology, 12, 700796. (doi: 10.3389/fneur.2021.700796) (PMID:34276551) (PMCID:PMC8280288)
van der Plas, E., Koscik, T. R., Magnotta, V., Cumming, S. A., Monckton, D. , Gutmann, L. and Nopoulos, P. (2021) Neurocognitive features of motor premanifest individuals with myotonic dystrophy type 1. Neurology Genetics, 7(2), e577. (doi: 10.1212/NXG.0000000000000577) (PMID:33912661) (PMCID:PMC8075572)
Wenninger, S. et al. (2021) Associations between variant repeat interruptions and clinical outcomes in myotonic dystrophy type 1. Neurology Genetics, 7(2), e572. (doi: 10.1212/NXG.0000000000000572) (PMID:33884298) (PMCID:PMC8054967)
Koscik, T. R., van der Plas, E., Gutmann, L., Cumming, S. A., Monckton, D. G. , Magnotta, V., Shields, R. K. and Nopoulos, P. C. (2021) White matter microstructure relates to motor outcomes in myotonic dystrophy type 1 independently of disease duration and genetic burden. Scientific Reports, 11, 4886. (doi: 10.1038/s41598-021-84520-2) (PMID:33649422) (PMCID:PMC7921687)
Cumming, S. A., Oliwa, A., Stevens, G., Ballantyne, B., Mann, C., Razvi, S., Longman, C., Monckton, D. G. and Farrugia, M. E. (2021) A DM1 patient with CCG variant repeats: reaching the diagnosis. Neuromuscular Disorders, 31(3), pp. 232-238. (doi: 10.1016/j.nmd.2020.12.005) (PMID:33546847)
Ciosi, M. et al. (2021) Approaches to sequence the HTT CAG repeat expansion and quantify repeat length variation. Journal of Huntington's Disease, 10(1), pp. 53-74. (doi: 10.3233/jhd-200433) (PMID:33579864) (PMCID:PMC7990409)
Ballester-Lopez, A. et al. (2020) Preliminary findings on CTG expansion determination in different tissues from patients with myotonic dystrophy type 1. Genes, 11(11), 1321. (doi: 10.3390/genes11111321) (PMID:33171734) (PMCID:PMC7695006)
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, 267(11), pp. 3235-3242. (doi: 10.1007/s00415-020-09970-6) (PMID:32542526) (PMCID:PMC7578145)
Miller, J. N., van der Plas, E., Hamilton, M., Koscik, T. R., Gutmann, L., Cumming, S. A., Monckton, D. G. and Nopoulos, P. C. (2020) Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1. Neurology Genetics, 6(5), e504. (doi: 10.1212/NXG.0000000000000504) (PMID:32851192) (PMCID:PMC7428360)
Ballester-Lopez, A. et al. (2020) The need for establishing a universal CTG sizing method in myotonic dystrophy type 1. Genes, 11(7), 757. (doi: 10.3390/genes11070757) (PMID:32645888)
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) (PMID:20714512)
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) (PMID:20582696)
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)
Research Reports or Papers
Ciosi, M. , Cumming, S. A., Alshammari, A. M., Symeonidi, E., Herzyk, P. , Mcguinness, D. , Galbraith, J., Hamilton, G. and Monckton, D. G. (2018) Library preparation and MiSeq sequencing for the genotyping-by-sequencing of the Huntington disease HTT exon one trinucleotide repeat and the quantification of somatic mosaicism [Protocol]. Other. Springer Nature. (doi: 10.21203/rs.2.1581/v2).
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)