| Title : Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 - Cossins_2013_Brain_136_944 |
| Author(s) : Cossins J , Belaya K , Hicks D , Salih MA , Finlayson S , Carboni N , Liu WW , Maxwell S , Zoltowska K , Farsani GT , Laval S , Seidhamed MZ , Donnelly P , Bentley D , McGowan SJ , Muller J , Palace J , Lochmuller H , Beeson D |
| Ref : Brain , 136 :944 , 2013 |
| Abstract : |
| PubMedSearch : Cossins_2013_Brain_136_944 |
| PubMedID: 23404334 |
| Title : Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates - Belaya_2012_Am.J.Hum.Genet_91_193 |
| Author(s) : Belaya K , Finlayson S , Slater CR , Cossins J , Liu WW , Maxwell S , McGowan SJ , Maslau S , Twigg SR , Walls TJ , Pascual Pascual SI , Palace J , Beeson D |
| Ref : American Journal of Human Genetics , 91 :193 , 2012 |
| Abstract : |
| PubMedSearch : Belaya_2012_Am.J.Hum.Genet_91_193 |
| PubMedID: 22742743 |
| Title : Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome - Belaya_2012_Ann.N.Y.Acad.Sci_1275_29 |
| Author(s) : Belaya K , Finlayson S , Cossins J , Liu WW , Maxwell S , Palace J , Beeson D |
| Ref : Annals of the New York Academy of Sciences , 1275 :29 , 2012 |
| Abstract : |
| PubMedSearch : Belaya_2012_Ann.N.Y.Acad.Sci_1275_29 |
| PubMedID: 23278575 |