congenital myasthenic syndrome

Literature (5)

Literature for DOID 3635: congenital myasthenic syndrome

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Mutation of single murine acetylcholine receptor subunits reveals differential contribution of P121 to acetylcholine binding and channel opening., Peter C,Korngreen A,Witzemann V, Pflugers Arch. June 1, 2005; 450(3):1432-2013.
Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction., Gomez CM,Maselli R,Gundeck JE,Chao M,Day JW,Tamamizu S,Lasalde JA,McNamee M,Wollmann RL, J Neurosci. June 1, 1997; 17(11):1529-2401.
A transgenic mouse model of the slow-channel syndrome., Gomez CM,Bhattacharyya BB,Charnet P,Day JW,Labarca C,Wollmann RL,Lambert EH, Muscle Nerve. January 1, 1996; 19(1):1097-4598.
Potential role of caveolin-1-positive domains in the regulation of the acetylcholine receptor's activatable pool: implications in the pathogenesis of a novel congenital myasthenic syndrome., Báez-Pagán CA,Martínez-Ortiz Y,Otero-Cruz JD,Salgado-Villanueva IK,Velázquez G,Ortiz-Acevedo A,Quesada O,Silva WI,Lasalde-Dominicci JA, Channels (Austin). January 1, 2008; 2(3):1933-6969.
Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome., Walogorsky M,Mongeon R,Wen H,Mandel G,Brehm P, J Neurosci. June 6, 2012; 32(23):1529-2401.

Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction., Gomez CM,Maselli R,Gundeck JE,Chao M,Day JW,Tamamizu S,Lasalde JA,McNamee M,Wollmann RL, J Neurosci. June 1, 1997; 17(11):1529-2401.

A transgenic mouse model of the slow-channel syndrome., Gomez CM,Bhattacharyya BB,Charnet P,Day JW,Labarca C,Wollmann RL,Lambert EH, Muscle Nerve. January 1, 1996; 19(1):1097-4598.

Potential role of caveolin-1-positive domains in the regulation of the acetylcholine receptor's activatable pool: implications in the pathogenesis of a novel congenital myasthenic syndrome., Báez-Pagán CA,Martínez-Ortiz Y,Otero-Cruz JD,Salgado-Villanueva IK,Velázquez G,Ortiz-Acevedo A,Quesada O,Silva WI,Lasalde-Dominicci JA, Channels (Austin). January 1, 2008; 2(3):1933-6969.

Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome., Walogorsky M,Mongeon R,Wen H,Mandel G,Brehm P, J Neurosci. June 6, 2012; 32(23):1529-2401.