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| 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 : Belaya_2012_Am.J.Hum.Genet_91_193 |
| ESTHER : Belaya_2012_Am.J.Hum.Genet_91_193 |
| PubMedSearch : Belaya_2012_Am.J.Hum.Genet_91_193 |
| PubMedID: 22742743 |
| Title : Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia' - Slater_2006_Brain_129_2061 |
| Author(s) : Slater CR , Fawcett PR , Walls TJ , Lyons PR , Bailey SJ , Beeson D , Young C , Gardner-Medwin D |
| Ref : Brain , 129 :2061 , 2006 |
| Abstract : Slater_2006_Brain_129_2061 |
| ESTHER : Slater_2006_Brain_129_2061 |
| PubMedSearch : Slater_2006_Brain_129_2061 |
| PubMedID: 16870884 |
| Title : Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor - Engel_1993_Muscle.Nerve_16_1284 |
| Author(s) : Engel AG , Nagel A , Walls TJ , Harper CM , Waisburg HA |
| Ref : Muscle & Nerve , 16 :1284 , 1993 |
| Abstract : Engel_1993_Muscle.Nerve_16_1284 |
| ESTHER : Engel_1993_Muscle.Nerve_16_1284 |
| PubMedSearch : Engel_1993_Muscle.Nerve_16_1284 |
| PubMedID: 8232383 |
| Title : The spectrum of congenital end-plate acetylcholinesterase deficiency - |
| Author(s) : Hutchinson DO , Engel AG , Walls TJ , Nakano S , Camp S , Taylor P , Harper CM , Brengman JM |
| Ref : Annals of the New York Academy of Sciences , 681 :469 , 1993 |
| PubMedID: 8395162 |
| Title : Congenital endplate acetylcholinesterase deficiency - Hutchinson_1993_Brain_116_633 |
| Author(s) : Hutchinson DO , Walls TJ , Nakano S , Camp S , Taylor P , Harper CM , Groover RV , Peterson HA , Jamieson DG , Engel AG |
| Ref : Brain , 116 :633 , 1993 |
| Abstract : Hutchinson_1993_Brain_116_633 |
| ESTHER : Hutchinson_1993_Brain_116_633 |
| PubMedSearch : Hutchinson_1993_Brain_116_633 |
| PubMedID: 8390325 |
| Title : Structure and function of neuromuscular junctions in the vastus lateralis of man. A motor point biopsy study of two groups of patients - Slater_1992_Brain_115 ( Pt 2)_451 |
| Author(s) : Slater CR , Lyons PR , Walls TJ , Fawcett PR , Young C |
| Ref : Brain , 115 ( Pt 2) :451 , 1992 |
| Abstract : Slater_1992_Brain_115 ( Pt 2)_451 |
| ESTHER : Slater_1992_Brain_115 ( Pt 2)_451 |
| PubMedSearch : Slater_1992_Brain_115 ( Pt 2)_451 |
| PubMedID: 1351415 |
| Title : Newly recognized congenital myasthenic syndromes: I. Congenital paucity of synaptic vesicles and reduced quantal release. II. High-conductance fast-channel syndrome. III. Abnormal acetylcholine receptor (AChR) interaction with acetylcholine. IV. AChR deficiency and short channel-open time - |
| Author(s) : Engel AG , Walls TJ , Nagel A , Uchitel O |
| Ref : Prog Brain Res , 84 :125 , 1990 |
| PubMedID: 2267290 |