Dr Cheryl Longman

  • Honorary Clinical Senior Lecturer (School of Medicine, Dentistry & Nursing)

email: Cheryl.Longman@glasgow.ac.uk

West Scotland Regional Genomic Service, QUEH, G51 4TF

Import to contacts

Publications

List by: Type | Date

Jump to: 2023 | 2022 | 2021 | 2020 | 2018
Number of items: 7.

2023

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)

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)

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)

2021

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)

2020

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)

2018

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)

This list was generated on Wed Apr 24 14:14:44 2024 BST.
Jump to: Articles
Number of items: 7.

Articles

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)

This list was generated on Wed Apr 24 14:14:44 2024 BST.