| 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 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 |
| Title : Congenital endplate acetylcholinesterase deficiency - Hutchinson_1993_Brain_116_633 |
| Author(s) : Hutchinson DO , Walls TJ , Nakano S , Camp S , Taylor P , Harper CM , Groover RV , Peterson HA , Jamieson DG , Engel AG |
| Ref : Brain , 116 :633 , 1993 |
| Abstract : |
| PubMedSearch : Hutchinson_1993_Brain_116_633 |
| PubMedID: 8390325 |
| Title : Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor - |
| Author(s) : Engel AG , Hutchinson DO , Nakano S , Murphy L , Griggs RC , Gu Y , Hall ZW , Lindstrom JM |
| Ref : Annals of the New York Academy of Sciences , 681 :496 , 1993 |
| PubMedID: 8357190 |