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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: muntoni f. 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
82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.
Bonne G, Capeau J, De Visser M, Duboc D, Merlini L, Morris GE, Muntoni F, Recan D, Sewry C, Squarzoni S, Stewart C, Talim B, van der Kooi A, Worman H, Schwartz K. Bonne G, et al. Among authors: muntoni f. Neuromuscul Disord. 2002 Feb;12(2):187-94. doi: 10.1016/s0960-8966(01)00243-7. Neuromuscul Disord. 2002. PMID: 11738362 No abstract available.
Congenital muscular dystrophies.
Mercuri E, Sewry C, Brown SC, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Semin Pediatr Neurol. 2002 Jun;9(2):120-31. doi: 10.1053/spen.2002.33802. Semin Pediatr Neurol. 2002. PMID: 12138996 Review.
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.
Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, Nishino I, Nonaka I, Yaou RB, Sabatelli P, Sewry C, Topaloglu H, van der Kooi A. Pepe G, et al. Among authors: muntoni f. Neuromuscul Disord. 2002 Dec;12(10):984-93. doi: 10.1016/s0960-8966(02)00139-6. Neuromuscul Disord. 2002. PMID: 12467756 No abstract available.
948 results