Title : Three novel COLQ mutations and variation of phenotypic expressivity due to G240X - Shapira_2002_Neurology_58_603 |
Author(s) : Shapira YA , Sadeh ME , Bergtraum MP , Tsujino A , Ohno K , Shen XM , Brengman J , Edwardson S , Matoth I , Engel AG |
Ref : Neurology , 58 :603 , 2002 |
Abstract : Shapira_2002_Neurology_58_603 |
ESTHER : Shapira_2002_Neurology_58_603 |
PubMedSearch : Shapira_2002_Neurology_58_603 |
PubMedID: 11865139 |
Title : Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating - Wang_1999_Nat.Neurosci_2_226 |
Author(s) : Wang HL , Milone M , Ohno K , Shen XM , Tsujino A , Batocchi AP , Tonali P , Brengman J , Engel AG , Sine SM |
Ref : Nat Neurosci , 2 :226 , 1999 |
Abstract : Wang_1999_Nat.Neurosci_2_226 |
ESTHER : Wang_1999_Nat.Neurosci_2_226 |
PubMedSearch : Wang_1999_Nat.Neurosci_2_226 |
PubMedID: 10195214 |
Title : Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme - Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
Author(s) : Ohno K , Brengman J , Tsujino A , Engel AG |
Ref : Proceedings of the National Academy of Sciences of the United States of America , 95 :9654 , 1998 |
Abstract : Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
ESTHER : Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
PubMedSearch : Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
PubMedID: 9689136 |