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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.
Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. Figueroa-Bonaparte S, et al. Among authors: quinlivan r. J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):680-1. doi: 10.1136/jnnp-2015-310362. Epub 2015 Jun 23. J Neurol Neurosurg Psychiatry. 2016. PMID: 26105173 Free PMC article. No abstract available.
McArdle disease: a clinical review.
Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, Vissing J, Bruno C, Cassandrini D, Roberts M, Winer J, Rose M, Sewry C. Quinlivan R, et al. J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1182-8. doi: 10.1136/jnnp.2009.195040. Epub 2010 Sep 22. J Neurol Neurosurg Psychiatry. 2010. PMID: 20861058 Free article.
Urogenital symptoms in mitochondrial disease: overlooked and undertreated.
Poole OV, Uchiyama T, Skorupinska I, Skorupinska M, Germain L, Kozyra D, Holmes S, James N, Bugiardini E, Woodward C, Quinlivan R, Emmanuel A, Hanna MG, Panicker JN, Pitceathly RDS. Poole OV, et al. Among authors: quinlivan r. Eur J Neurol. 2019 Aug;26(8):1111-1120. doi: 10.1111/ene.13952. Epub 2019 Apr 30. Eur J Neurol. 2019. PMID: 30884027 Free PMC article.
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H. Wilmshurst JM, et al. Among authors: quinlivan r. Ann Neurol. 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119. Ann Neurol. 2010. PMID: 20839240 Free article.
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
Jain RK, Jayawant S, Squier W, Muntoni F, Sewry CA, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow JC, Ravenscroft G, Nowak KJ, Memo M, Marston SB, Laing NG. Jain RK, et al. Among authors: quinlivan r. Neurology. 2012 Apr 3;78(14):1100-3. doi: 10.1212/WNL.0b013e31824e8ebe. Epub 2012 Mar 21. Neurology. 2012. PMID: 22442437 No abstract available.
190 results