| 1 | CMSP, RAPSN
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| Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
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| Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG.
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| Neurology 73(3):228-35.
2009
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| 2 | CMSP,RAPSN
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| Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
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| Maselli RA, Dris H, Schnier J, Cockrell JL, Wollmann RL.
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| Clin Genet 72(1):63-5. No abstract available. 2007
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| 3 | RAPSN, CMSP
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| Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
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| MŸller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, MŸller-Felber W, Abicht A, LochmŸller H.
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| Neurology 67(7):1159-64. Epub 2006 Aug 23. 2006
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| 4 | RAPSN, CMSP
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| A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
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| Muller JS, Abicht A, Christen HJ, Stucka R, Schara U, Mortier W, Huebner A, Lochmuller H.
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| Neuromuscul Disord 14(11):744-9. 2004
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| 5 | CMSP, RAPSN
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| E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
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| Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG.
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| Hum Mol Genet 12(7):739-48. 2003
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| 6 | CMSP, RAPSN
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| Identification of pathogenic mutations in the human rapsyn gene.
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| Dunne V, Maselli RA.
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| J Hum Genet 48(4):204-7. Epub 2003 Mar 05. 2003
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| 7 | RAPSN, CMSP
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| Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
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| Muller JS, Mildner G, Muller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmuller H, Abicht A.
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| Neurology 60(11):1805-10. 2003
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| 8 | RAPSN, CMSP
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| Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
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| Burke G, Cossins J, Maxwell S, Owens G, Vincent A, Robb S, Nicolle M, Hilton-Jones D, Newsom-Davis J, Palace J, Beeson D.
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| Neurology 61(6):826-8. 2003
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| 9 | CMSP, RAPSN
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| Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
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| Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M.
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| Am J Hum Genet 70(4):875-85. 2002
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