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| Title : Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter - Rodriguez_2021_Neuromuscul.Disord_31_21 |
| Author(s) : Rodriguez Cruz PM , Hughes I , Manzur A , Munot P , Ramdas S , Wright R , Breen C , Pitt M , Pagnamenta AT , Taylor JC , Palace J , Beeson D |
| Ref : Neuromuscular Disorders , 31 :21 , 2021 |
| Abstract : Rodriguez_2021_Neuromuscul.Disord_31_21 |
| ESTHER : Rodriguez_2021_Neuromuscul.Disord_31_21 |
| PubMedSearch : Rodriguez_2021_Neuromuscul.Disord_31_21 |
| PubMedID: 33250374 |
| Title : beta2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure - Vanhaesebrouck_2019_Brain_142_3713 |
| Author(s) : Vanhaesebrouck AE , Webster R , Maxwell S , Rodriguez Cruz PM , Cossins J , Wickens J , Liu WW , Cetin H , Cheung J , Ramjattan H , Palace J , Beeson D |
| Ref : Brain , 142 :3713 , 2019 |
| Abstract : Vanhaesebrouck_2019_Brain_142_3713 |
| ESTHER : Vanhaesebrouck_2019_Brain_142_3713 |
| PubMedSearch : Vanhaesebrouck_2019_Brain_142_3713 |
| PubMedID: 31633155 |
| 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 : Logan_2015_Am.J.Hum.Genet_97_878 |
| ESTHER : Logan_2015_Am.J.Hum.Genet_97_878 |
| 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 : Rodriguez_2014_Neuromuscul.Disord_24_1103 |
| ESTHER : Rodriguez_2014_Neuromuscul.Disord_24_1103 |
| PubMedSearch : Rodriguez_2014_Neuromuscul.Disord_24_1103 |
| PubMedID: 25127990 |