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Page 1
Clinical features of the DOK7 neuromuscular junction synaptopathy.
Palace J, Lashley D, Newsom-Davis J, Cossins J, Maxwell S, Kennett R, Jayawant S, Yamanashi Y, Beeson D. Palace J, et al. Among authors: jayawant s. Brain. 2007 Jun;130(Pt 6):1507-15. doi: 10.1093/brain/awm072. Epub 2007 Apr 23. Brain. 2007. PMID: 17452375
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: jayawant s. 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
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, O'Regan M; UK Ataxia Consortium; Valentine R, Packham E, Evans J, Seller A, Ragoussis J. Németh AH, et al. Among authors: jayawant s. Brain. 2013 Oct;136(Pt 10):3106-18. doi: 10.1093/brain/awt236. Epub 2013 Sep 11. Brain. 2013. PMID: 24030952 Free PMC article.
Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis.
Rodríguez Cruz PM, Al-Hajjar M, Huda S, Jacobson L, Woodhall M, Jayawant S, Buckley C, Hilton-Jones D, Beeson D, Vincent A, Leite MI, Palace J. Rodríguez Cruz PM, et al. Among authors: jayawant s. JAMA Neurol. 2015 Jun;72(6):642-9. doi: 10.1001/jamaneurol.2015.0203. JAMA Neurol. 2015. PMID: 25894002 Free PMC article.
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Németh AH. Parolin Schnekenberg R, et al. Among authors: jayawant s. Brain. 2015 Jul;138(Pt 7):1817-32. doi: 10.1093/brain/awv117. Epub 2015 May 16. Brain. 2015. PMID: 25981959 Free PMC article.
80 results