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A DM1 patient with CCG variant repeats: Reaching the diagnosis.
Cumming SA, Oliwa A, Stevens G, Ballantyne B, Mann C, Razvi S, Longman C, Monckton DG, Farrugia ME. Cumming SA, et al. Among authors: farrugia me. Neuromuscul Disord. 2021 Mar;31(3):232-238. doi: 10.1016/j.nmd.2020.12.005. Epub 2020 Dec 24. Neuromuscul Disord. 2021. PMID: 33546847
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1.
Hamilton MJ, Atalaia A, McLean J, Cumming SA, Evans JJ, Ballantyne B, Jampana R, The Scottish Myotonic Dystrophy Consortium, Longman C, Livingston E, van der Plas E, Koscik T, Nopoulos P, Farrugia ME, Monckton DG. Hamilton MJ, et al. Among authors: farrugia me. Neuromuscul Disord. 2022 May;32(5):377-389. doi: 10.1016/j.nmd.2022.02.003. Epub 2022 Feb 14. Neuromuscul Disord. 2022. PMID: 35361525 Free article.
Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.
Oliwa A, Hocking C, Hamilton MJ, McLean J, Cumming S, Ballantyne B, Jampana R, Longman C, Monckton DG, Farrugia ME; Scottish Myotonic Dystrophy Consortium. Oliwa A, et al. Among authors: farrugia me. Neuromuscul Disord. 2022 Dec;32(11-12):893-902. doi: 10.1016/j.nmd.2022.09.005. Epub 2022 Sep 24. Neuromuscul Disord. 2022. PMID: 36207221 Free article.
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
Cumming SA, Hamilton MJ, Robb Y, Gregory H, McWilliam C, Cooper A, Adam B, McGhie J, Hamilton G, Herzyk P, Tschannen MR, Worthey E, Petty R, Ballantyne B; Scottish Myotonic Dystrophy Consortium; Warner J, Farrugia ME, Longman C, Monckton DG. Cumming SA, et al. Among authors: farrugia me. Eur J Hum Genet. 2018 Nov;26(11):1635-1647. doi: 10.1038/s41431-018-0156-9. Epub 2018 Jul 2. Eur J Hum Genet. 2018. PMID: 29967337 Free PMC article.
The prevalence of faecal incontinence in myotonic dystrophy type 1.
Petty RKH, Eugenicos MP, Hamilton MJ, Farrugia ME, Robb Y, Ballantyne R, Gregory H, McWilliam C, Longman C. Petty RKH, et al. Among authors: farrugia me. Neuromuscul Disord. 2019 Jul;29(7):562-566. doi: 10.1016/j.nmd.2019.05.009. Epub 2019 Jun 7. Neuromuscul Disord. 2019. PMID: 31266721
The phenotypic and genotypic features of a Scottish cohort with McArdle disease.
Gandhi SE, Longman C, Petty RKH, Brennan KM, Stewart W, Kinch K, Töpf A, Straub V, Quinlivan R, Farrugia ME. Gandhi SE, et al. Among authors: farrugia me. Neuromuscul Disord. 2021 Aug;31(8):695-700. doi: 10.1016/j.nmd.2021.05.009. Epub 2021 May 30. Neuromuscul Disord. 2021. PMID: 34215481
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Ullmann U, D'Argenzio L, Mathur S, Whyte T, Quinlivan R, Longman C, Farrugia ME, Manzur A, Willis T, Jungbluth H, Pitt M, Cirak S; UK10K consortium; Feng L, Stewart W, Mein R, Phadke R, Sewry C, Sarkozy A, Muntoni F. Ullmann U, et al. Among authors: farrugia me. Neuromuscul Disord. 2018 Sep;28(9):741-749. doi: 10.1016/j.nmd.2018.05.012. Epub 2018 Jun 30. Neuromuscul Disord. 2018. PMID: 30131190
83 results