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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG. Pitceathly RD, et al. Among authors: robb sa. Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29. Neurology. 2012. PMID: 22933740 Free PMC article.
Corrigendum to "Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1-3 March 2019" [Neuromuscular Disorders 30 (2020) 254-264].
Munot P, Robb SA, Niks EH, Palace J; ENMC workshop study group. Munot P, et al. Among authors: robb sa. Neuromuscul Disord. 2021 Mar;31(3):264. doi: 10.1016/j.nmd.2021.02.003. Epub 2021 Feb 16. Neuromuscul Disord. 2021. PMID: 33602550 No abstract available.
Congenital myopathies: Natural history of a large pediatric cohort.
Colombo I, Scoto M, Manzur AY, Robb SA, Maggi L, Gowda V, Cullup T, Yau M, Phadke R, Sewry C, Jungbluth H, Muntoni F. Colombo I, et al. Among authors: robb sa. Neurology. 2015 Jan 6;84(1):28-35. doi: 10.1212/WNL.0000000000001110. Epub 2014 Nov 26. Neurology. 2015. PMID: 25428687 Free PMC article.
Muscle magnetic resonance imaging in congenital myasthenic syndromes.
Finlayson S, Morrow JM, Rodriguez Cruz PM, Sinclair CD, Fischmann A, Thornton JS, Knight S, Norbury R, White M, Al-Hajjar M, Carboni N, Jayawant S, Robb SA, Yousry TA, Beeson D, Palace J. Finlayson S, et al. Among authors: robb sa. Muscle Nerve. 2016 Aug;54(2):211-9. doi: 10.1002/mus.25035. Epub 2016 Feb 22. Muscle Nerve. 2016. PMID: 26789134 Free PMC article.
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi S, Devile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D, Robb SA. Klein A, et al. Among authors: robb sa. Neuromuscul Disord. 2013 Nov;23(11):883-91. doi: 10.1016/j.nmd.2013.06.002. Epub 2013 Jul 3. Neuromuscul Disord. 2013. PMID: 23831158
67 results