| Title : Highly fatal fast-channel syndrome caused by AChR epsilon subunit mutation at the agonist binding site - Shen_2012_Neurology_79_449 |
| Author(s) : Shen XM , Brengman JM , Edvardson S , Sine SM , Engel AG |
| Ref : Neurology , 79 :449 , 2012 |
| Abstract : |
| PubMedSearch : Shen_2012_Neurology_79_449 |
| PubMedID: 22592360 |
| Title : Myasthenic syndrome AChRalpha C-loop mutant disrupts initiation of channel gating - Shen_2012_J.Clin.Invest_122_2613 |
| Author(s) : Shen XM , Brengman JM , Sine SM , Engel AG |
| Ref : J Clinical Investigation , 122 :2613 , 2012 |
| Abstract : |
| PubMedSearch : Shen_2012_J.Clin.Invest_122_2613 |
| PubMedID: 22728938 |
| Title : Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating - Shen_2003_J.Clin.Invest_111_497 |
| Author(s) : Shen XM , Ohno K , Tsujino A , Brengman JM , Gingold M , Sine SM , Engel AG |
| Ref : J Clinical Investigation , 111 :497 , 2003 |
| Abstract : |
| PubMedSearch : Shen_2003_J.Clin.Invest_111_497 |
| PubMedID: 12588888 |
| Title : Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome - Wang_2000_J.Gen.Physiol_116_449 |
| Author(s) : Wang HL , Ohno K , Milone M , Brengman JM , Evoli A , Batocchi AP , Middleton LT , Christodoulou K , Engel AG , Sine SM |
| Ref : Journal of General Physiology , 116 :449 , 2000 |
| Abstract : |
| PubMedSearch : Wang_2000_J.Gen.Physiol_116_449 |
| PubMedID: 10962020 |
| Title : The spectrum of mutations causing end-plate acetylcholinesterase deficiency - Ohno_2000_Ann.Neurol_47_162 |
| Author(s) : Ohno K , Engel AG , Brengman JM , Shen XM , Heidenreich F , Vincent A , Milone M , Tan E , Demirci M , Walsh P , Nakano S , Akiguchi I |
| Ref : Annals of Neurology , 47 :162 , 2000 |
| Abstract : |
| PubMedSearch : Ohno_2000_Ann.Neurol_47_162 |
| PubMedID: 10665486 |
| Title : Mutation causing congenital myasthenia reveals acetylcholine receptor beta\/delta subunit interaction essential for assembly - Quiram_1999_J.Clin.Invest_104_1403 |
| Author(s) : Quiram PA , Ohno K , Milone M , Patterson MC , Pruitt NJ , Brengman JM , Sine SM , Engel AG |
| Ref : J Clinical Investigation , 104 :1403 , 1999 |
| Abstract : |
| PubMedSearch : Quiram_1999_J.Clin.Invest_104_1403 |
| PubMedID: 10562302 |
| Title : Congenital End-Plate Acetylcholinesterase Deficiency Caused by a Nonsense Mutation and an A-->G Splice-Donor-Site Mutation at Position +3 of the Collagenlike-Tail-Subunit Gene (COLQ): How Does G at Position +3 Result in Aberrant Splicing? - Ohno_1999_Am.J.Hum.Genet_65_635 |
| Author(s) : Ohno K , Brengman JM , Felice KJ , Cornblath DR , Engel AG |
| Ref : American Journal of Human Genetics , 65 :635 , 1999 |
| Abstract : |
| PubMedSearch : Ohno_1999_Am.J.Hum.Genet_65_635 |
| PubMedID: 10441569 |
| Title : Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit - Milone_1998_Neuron_20_575 |
| Author(s) : Milone M , Wang HL , Ohno K , Prince R , Fukudome T , Shen XM , Brengman JM , Griggs RC , Sine SM , Engel AG |
| Ref : Neuron , 20 :575 , 1998 |
| Abstract : |
| PubMedSearch : Milone_1998_Neuron_20_575 |
| PubMedID: 9539130 |
| Title : Congenital myasthenic syndromes due to heteroallelic nonsense\/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations - Ohno_1997_Hum.Mol.Genet_6_753 |
| Author(s) : Ohno K , Quiram PA , Milone M , Wang HL , Harper MC , Pruitt JN, 2nd , Brengman JM , Pao L , Fischbeck KH , Crawford TO , Sine SM , Engel AG |
| Ref : Hum Mol Genet , 6 :753 , 1997 |
| Abstract : |
| PubMedSearch : Ohno_1997_Hum.Mol.Genet_6_753 |
| PubMedID: 9158150 |
| Title : New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome - Engel_1996_Hum.Mol.Genet_5_1217 |
| Author(s) : Engel AG , Ohno K , Milone M , Wang HL , Nakano S , Bouzat C , Pruitt JN, 2nd , Hutchinson DO , Brengman JM , Bren N , Sieb JP , Sine SM |
| Ref : Hum Mol Genet , 5 :1217 , 1996 |
| Abstract : |
| PubMedSearch : Engel_1996_Hum.Mol.Genet_5_1217 |
| PubMedID: 8872460 |
| Title : Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit - Ohno_1996_Neuron_17_157 |
| Author(s) : Ohno K , Wang HL , Milone M , Bren N , Brengman JM , Nakano S , Quiram P , Pruitt JN , Sine SM , Engel AG |
| Ref : Neuron , 17 :157 , 1996 |
| Abstract : |
| PubMedSearch : Ohno_1996_Neuron_17_157 |
| PubMedID: 8755487 |
| Title : Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit - Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| Author(s) : Ohno K , Hutchinson DO , Milone M , Brengman JM , Bouzat C , Sine SM , Engel AG |
| Ref : Proc Natl Acad Sci U S A , 92 :758 , 1995 |
| Abstract : |
| PubMedSearch : Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| PubMedID: 7531341 |
| Title : The spectrum of congenital end-plate acetylcholinesterase deficiency - |
| Author(s) : Hutchinson DO , Engel AG , Walls TJ , Nakano S , Camp S , Taylor P , Harper CM , Brengman JM |
| Ref : Annals of the New York Academy of Sciences , 681 :469 , 1993 |
| PubMedID: 8395162 |