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Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Roth F, Dhiab J, Boulinguiez A, Mouigni HR, Lassche S, Negroni E, Muraine L, Marhic A, Oliver A, Lainé J, Rouche A, O'Ferrall EK, van Engelen B, Ottenheijm C, Greif H, Blumen S, Lacau St Guily J, Perie S, Butler-Browne G, Mouly V, Trollet C. Roth F, et al. Among authors: o ferrall ek. Acta Neuropathol. 2022 Dec;144(6):1157-1170. doi: 10.1007/s00401-022-02503-7. Epub 2022 Oct 5. Acta Neuropathol. 2022. PMID: 36197469 Free PMC article.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M. Vasli N, et al. Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5. Brain. 2017. PMID: 27816943 Free PMC article.
BAG3P215L/KO Mice as a Model of BAG3P209L Myofibrillar Myopathy.
Robertson R, Conte TC, Dicaire MJ, Rymar VV, Sadikot AF, Bryson-Richardson RJ, Lavoie JN, O'Ferrall E, Young JC, Brais B. Robertson R, et al. Am J Pathol. 2020 Mar;190(3):554-562. doi: 10.1016/j.ajpath.2019.11.005. Epub 2020 Jan 14. Am J Pathol. 2020. PMID: 31953038 Free article.
Autoantibody profiles delineate distinct subsets of scleromyositis.
Leclair V, D'Aoust J, Gyger G, Landon-Cardinal O, Meyer A, O'Ferrall E, Karamchandani J, Massie R, Ellezam B, Satoh M, Troyanov Y, Fritzler MJ, Hudson M; Canadian Inflammatory Myopathy Study Group. Leclair V, et al. Rheumatology (Oxford). 2022 Mar 2;61(3):1148-1157. doi: 10.1093/rheumatology/keab492. Rheumatology (Oxford). 2022. PMID: 34146090
Myositis with prominent B-cell aggregates causing shrinking lung syndrome in systemic lupus erythematosus: a case report.
Roy F, Korathanakhun P, Karamchandani J, Dubé BP, Landon-Cardinal O, Routhier N, Peyronnard C, Massie R, Leclair V, Meyer A, Bourré-Tessier J, Satoh M, Fritzler MJ, Senécal JL, Hudson M, O'Ferrall EK, Troyanov Y, Ellezam B, Makhzoum JP. Roy F, et al. Among authors: o ferrall ek. BMC Rheumatol. 2022 Feb 16;6(1):11. doi: 10.1186/s41927-021-00240-0. BMC Rheumatol. 2022. PMID: 35168668 Free PMC article.
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