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Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Kinali M, et al. Among authors: robb sa. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15. J Neuroimmunol. 2008. PMID: 18707767
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: robb s. Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107. Brain. 2019. PMID: 31081514 Free PMC article.
Congenital myasthenic syndrome caused by mutations in DPAGT.
Klein A, Robb S, Rushing E, Liu WW, Belaya K, Beeson D. Klein A, et al. Among authors: robb s. Neuromuscul Disord. 2015 Mar;25(3):253-6. doi: 10.1016/j.nmd.2014.11.013. Epub 2014 Nov 26. Neuromuscul Disord. 2015. PMID: 25500013
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: robb s. 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.
Paediatric myasthenia gravis: Prognostic factors for drug free remission.
Vecchio D, Ramdas S, Munot P, Pitt M, Beeson D, Knight R, Rodríguez Cruz P, Vincent A, Jayawant S, DeVile C, Buckley C, Hilton-Jones D, Robb S, Palace J. Vecchio D, et al. Among authors: robb s. Neuromuscul Disord. 2020 Feb;30(2):120-127. doi: 10.1016/j.nmd.2019.11.008. Epub 2019 Nov 21. Neuromuscul Disord. 2020. PMID: 32001147
282 results