| Title : Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII alpha1 Chain - Logan_2015_Am.J.Hum.Genet_97_878 |
| Author(s) : Logan CV , Cossins J , Rodriguez Cruz PM , Parry DA , Maxwell S , Martinez-Martinez P , Riepsaame J , Abdelhamed ZA , Lake AV , Moran M , Robb S , Chow G , Sewry C , Hopkins PM , Sheridan E , Jayawant S , Palace J , Johnson CA , Beeson D |
| Ref : American Journal of Human Genetics , 97 :878 , 2015 |
| Abstract : |
| PubMedSearch : Logan_2015_Am.J.Hum.Genet_97_878 |
| PubMedID: 26626625 |
| Title : Congenital myopathies with secondary neuromuscular transmission defects\; A case report and review of the literature - Rodriguez_2014_Neuromuscul.Disord_24_1103 |
| Author(s) : Rodriguez Cruz PM , Sewry C , Beeson D , Jayawant S , Squier W , McWilliam R , Palace J |
| Ref : Neuromuscular Disorders , 24 :1103 , 2014 |
| Abstract : |
| PubMedSearch : Rodriguez_2014_Neuromuscul.Disord_24_1103 |
| PubMedID: 25127990 |
| Title : Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7 - Lashley_2010_Neurology_74_1517 |
| Author(s) : Lashley D , Palace J , Jayawant S , Robb S , Beeson D |
| Ref : Neurology , 74 :1517 , 2010 |
| Abstract : |
| PubMedSearch : Lashley_2010_Neurology_74_1517 |
| PubMedID: 20458068 |
| Title : Clinical features of the DOK7 neuromuscular junction synaptopathy - Palace_2007_Brain_130_1507 |
| Author(s) : Palace J , Lashley D , Newsom-Davis J , Cossins J , Maxwell S , Kennett R , Jayawant S , Yamanashi Y , Beeson D |
| Ref : Brain , 130 :1507 , 2007 |
| Abstract : |
| PubMedSearch : Palace_2007_Brain_130_1507 |
| PubMedID: 17452375 |
| Title : Childhood myasthenia: clinical subtypes and practical management - Parr_2007_Dev.Med.Child.Neurol_49_629 |
| Author(s) : Parr JR , Jayawant S |
| Ref : Dev Med Child Neurol , 49 :629 , 2007 |
| Abstract : |
| PubMedSearch : Parr_2007_Dev.Med.Child.Neurol_49_629 |
| PubMedID: 17635211 |