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email:
Cheryl.Longman@glasgow.ac.uk
West Scotland Regional Genomic Service, QUEH, G51 4TF
Oliwa, A., Hendson, G., Longman, C., Synnes, A., Seath, K., Barnicoat, A., Hall, J. G. and Patel, M. S. (2023) Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5. American Journal of Medical Genetics Part A, 191(2), pp. 546-553. (doi: 10.1002/ajmg.a.63019) (PMID:36317804)
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)
Oliwa, A. et al. (2022) Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype. Journal of Neuromuscular Diseases, 9(6), pp. 803-808. (doi: 10.3233/jnd-220818) (PMID:36057830)
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)
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)
Kaplanis, J. et al. (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), pp. 757-762. (doi: 10.1038/s41586-020-2832-5) (PMID:33057194)
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)
Oliwa, A., Hendson, G., Longman, C., Synnes, A., Seath, K., Barnicoat, A., Hall, J. G. and Patel, M. S. (2023) Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5. American Journal of Medical Genetics Part A, 191(2), pp. 546-553. (doi: 10.1002/ajmg.a.63019) (PMID:36317804)
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)
Oliwa, A. et al. (2022) Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype. Journal of Neuromuscular Diseases, 9(6), pp. 803-808. (doi: 10.3233/jnd-220818) (PMID:36057830)
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)
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)
Kaplanis, J. et al. (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), pp. 757-762. (doi: 10.1038/s41586-020-2832-5) (PMID:33057194)
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)