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We take an active approach to research and are interested in developing the best results to assess and manage glycogen storage diseases.
Publications
Chiara Pizzamiglio1 | Omar A. Mahroo2,3,4 | Kamron N. Khan5,6 | Maria Patasin1 | Rosaline Quinlivan1 Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study 17 September 2021
Pattni, J., Godfrey, R., Chatfield, S., Booth, S., & Quinlivan, R. (2020). Reference values for the 12 minute walk test in McArdle patients. NEUROMUSCULAR DISORDERS, 30(10), 862-865. doi:10.1016/j.nmd.2020.08.361
Pizzamiglio, C., Lahiri, N., Nirmalananthan, N., Sood, B., Somalanka, S., Ostrowski, P., . . . Quinlivan, R. (2020). First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood. Neuromuscular Disorders. doi:10.1016/j.nmd.2020.05.004
Scalco, R. S., Stemmerik, M., Løkken, N., Vissing, C. R., Madsen, K. L., Michalak, Z., . . . Quinlivan, R. (2020). Results of an open label feasibility study of sodium valproate in people with McArdle disease. Neuromuscular Disorders. doi:10.1016/j.nmd.2020.04.009
Poole, O. V., Horga, A., Hardy, S. A., Bugiardini, E., Woodward, C. E., Hargreaves, I. P., . . . Pitceathly, R. D. S. (2020). Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant. Neurology Genetics, 6(2), e413. doi:10.1212/nxg.0000000000000413
Lokken, N., Hansen, K. K., Storgaard, J. H., Orngreen, M. C., Quinlivan, R., & Vissing, J. (2020). Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study. JOURNAL OF INHERITED METABOLIC DISEASE, 43(4), 778-786. doi:10.1002/jimd.12223
Bugiardini, E., Bottani, E., Marchet, S., Poole, O. V., Beninca, C., Horga, A., . . . Pitceathly, R. D. S. (2020). Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. Neurology Genetics, 6(1), e381. doi:10.1212/nxg.0000000000000381
Scalco, R. S., Quinlivan, R. M., Nastasi, L., Jaffer, F., & Hanna, M. G. (2019). Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions. Neuromuscular Disorders. doi:10.1016/j.nmd.2019.11.013
Ambrosini, A., Quinlivan, R., Sansone, V. A., Meijer, I., Schrijvers, G., Tibben, A., . . . Zittersteijn, A. (2019). “Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease. Orphanet Journal of Rare Diseasesvolume, 14, 12 pages. doi:10.1186/s13023-019-1103-8
Wigley, R., Scalco, R. S., Gardiner, A. R., Godfrey, R., Booth, S., Kirk, R., . . . Quinlivan, R. (2019). The need for biochemical testing in beta-enolase deficiency in the genomic era.. JIMD Rep, 50(1), 40-43. doi:10.1002/jmd2.12070
Pietrusz, A., Scalco, R. S., Savvatis, K., Gkosios, T., Elliott, P., & Quinlivan, R. (2019). ARE PEOPLE WITH MCARDLE DISEASE AT RISK OF CORONARY ARTERY DISEASE?. Poster session presented at the meeting of Muscle-Study-Group Meeting on Challenges in Clinical Trials for Rare Neuromuscular Diseases. Snowbird, UT. Retrieved from http://gateway.webofknowledge.com/