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Page 1
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Among authors: farrugia me. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
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
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F. Sarkozy A, et al. Among authors: farrugia me. J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3. J Neurol Neurosurg Psychiatry. 2018. PMID: 29437916
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Rodríguez Cruz PM, Belaya K, Basiri K, Sedghi M, Farrugia ME, Holton JL, Liu WW, Maxwell S, Petty R, Walls TJ, Kennett R, Pitt M, Sarkozy A, Parton M, Lochmüller H, Muntoni F, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: farrugia me. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):802-9. doi: 10.1136/jnnp-2016-313163. Epub 2016 May 4. J Neurol Neurosurg Psychiatry. 2016. PMID: 27147698 Free PMC article.
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
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
Mroczek M, Longman C, Farrugia ME, Kapetanovic Garcia S, Ardicli D, Topaloglu H, Hernández-Laín A, Orhan D, Alikasifoglu M, Duff J, Specht S, Nowak K, Ravenscroft G, Chao K, Valivullah Z, Donkervoort S, Saade D, Bönnemann C, Straub V, Yoon G. Mroczek M, et al. Among authors: farrugia me. J Med Genet. 2022 Nov;59(11):1069-1074. doi: 10.1136/jmedgenet-2021-108341. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393337 Free PMC article.
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 Free 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
83 results