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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium; Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. Donkervoort S, et al. Among authors: witting n. Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29. Acta Neuropathol. 2019. PMID: 31463572 Free PMC article.
Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study.
Bril V, Drużdż A, Grosskreutz J, Habib AA, Mantegazza R, Sacconi S, Utsugisawa K, Vissing J, Vu T, Boehnlein M, Bozorg A, Gayfieva M, Greve B, Woltering F, Kaminski HJ; MG0003 study team. Bril V, et al. Lancet Neurol. 2023 May;22(5):383-394. doi: 10.1016/S1474-4422(23)00077-7. Lancet Neurol. 2023. PMID: 37059507 Clinical Trial.
Cardiac manifestations of myotonic dystrophy type 1.
Petri H, Vissing J, Witting N, Bundgaard H, Køber L. Petri H, et al. Among authors: witting n. Int J Cardiol. 2012 Oct 4;160(2):82-8. doi: 10.1016/j.ijcard.2011.08.037. Epub 2011 Sep 13. Int J Cardiol. 2012. PMID: 21917328 Review.
Response.
Witting N, Duno M, Vissing J. Witting N, et al. Neuromuscul Disord. 2013 Feb;23(2):193. doi: 10.1016/j.nmd.2012.12.006. Epub 2013 Jan 26. Neuromuscul Disord. 2013. PMID: 23357682 No abstract available.
Severe axial myopathy in McArdle disease.
Witting N, Duno M, Piraud M, Vissing J. Witting N, et al. JAMA Neurol. 2014 Jan;71(1):88-90. doi: 10.1001/jamaneurol.2013.3209. JAMA Neurol. 2014. PMID: 24216972
88 results