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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D. Belaya K, et al. Among authors: palace j. Brain. 2015 Sep;138(Pt 9):2493-504. doi: 10.1093/brain/awv185. Epub 2015 Jun 30. Brain. 2015. PMID: 26133662 Free PMC article.
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. Brain. 2007 Jun;130(Pt 6):1507-15. doi: 10.1093/brain/awm072. Epub 2007 Apr 23. Brain. 2007. PMID: 17452375
Prognostic factors and disease course in aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder from the United Kingdom and Japan.
Kitley J, Leite MI, Nakashima I, Waters P, McNeillis B, Brown R, Takai Y, Takahashi T, Misu T, Elsone L, Woodhall M, George J, Boggild M, Vincent A, Jacob A, Fujihara K, Palace J. Kitley J, et al. Among authors: palace j. Brain. 2012 Jun;135(Pt 6):1834-49. doi: 10.1093/brain/aws109. Epub 2012 May 9. Brain. 2012. PMID: 22577216
Distinction of seropositive NMO spectrum disorder and MS brain lesion distribution.
Matthews L, Marasco R, Jenkinson M, Küker W, Luppe S, Leite MI, Giorgio A, De Stefano N, Robertson N, Johansen-Berg H, Evangelou N, Palace J. Matthews L, et al. Among authors: palace j. Neurology. 2013 Apr 2;80(14):1330-7. doi: 10.1212/WNL.0b013e3182887957. Epub 2013 Mar 13. Neurology. 2013. PMID: 23486868 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: palace j. JAMA Neurol. 2015 Jun;72(6):642-9. doi: 10.1001/jamaneurol.2015.0203. JAMA Neurol. 2015. PMID: 25894002 Free PMC article.
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Logan CV, Cossins J, Rodríguez Cruz PM, Parry DA, Maxwell S, Martínez-Martínez P, Riepsaame J, Abdelhamed ZA, Lake AV, Moran M, Robb S, Chow G, Sewry C, Hopkins PM, Sheridan E, Jayawant S, Palace J, Johnson CA, Beeson D. Logan CV, et al. Among authors: palace j. Am J Hum Genet. 2015 Dec 3;97(6):878-85. doi: 10.1016/j.ajhg.2015.10.017. Epub 2015 Nov 25. Am J Hum Genet. 2015. PMID: 26626625 Free PMC article.
Myasthenia gravis: a clinical-immunological update.
Binks S, Vincent A, Palace J. Binks S, et al. Among authors: palace j. J Neurol. 2016 Apr;263(4):826-34. doi: 10.1007/s00415-015-7963-5. Epub 2015 Dec 24. J Neurol. 2016. PMID: 26705120 Free PMC article. Review.
416 results