Title : Collagen Q--a potential target for autoantibodies in myasthenia gravis - Zoltowska_2015_J.Neurol.Sci_348_241 |
Author(s) : Zoltowska Katarzyna M , Belaya K , Leite M , Patrick W , Vincent A , Beeson D |
Ref : Journal of Neurology Sci , 348 :241 , 2015 |
Abstract : |
PubMedSearch : Zoltowska_2015_J.Neurol.Sci_348_241 |
PubMedID: 25577314 |
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 : 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 |
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 |