6 results for author:"Harper C.M." in Literature citations
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| Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. Milone M., Shen X.M., Selcen D., Ohno K., Brengman J., Iannaccone S.T., Harper C.M., Engel A.G. Neurology 73:228-235(2009) · Mapped (1) |
| Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Selcen D., Milone M., Shen X.M., Harper C.M., Stans A.A., Wieben E.D., Engel A.G. Ann. Neurol. 64:71-87(2008) · Mapped (3) |
| Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Tsujino A., Maertens C., Ohno K., Shen X.-M., Fukuda T., Harper C.M., Cannon S.C., Engel A.G. Proc. Natl. Acad. Sci. U.S.A. 100:7377-7382(2003) · UniProtKB (1) · Mapped (2) |
| Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Ohno K., Engel A.G., Shen X.-M., Selcen D., Brengman J., Harper C.M., Tsujino A., Milone M. Am. J. Hum. Genet. 70:875-885(2002) · UniProtKB (1) |
| Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Ohno K., Tsujino A., Brengman J.M., Harper C.M., Bajzer Z., Udd B., Beyring R., Robb S., Kirkham F.J., Engel A.G. Proc. Natl. Acad. Sci. U.S.A. 98:2017-2022(2001) · UniProtKB (1) · Mapped (2) |
| Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Harper C.M., Engel A.G. Ann. Neurol. 43:480-484(1998) |