Full name : Engel Andrew G
First name : Andrew G
Mail : Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Zip Code :
City :
Country : USA
Email : age@mayo.edu
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| Title : Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review - Ohno_2023_Int.J.Mol.Sci_24_ |
| Author(s) : Ohno K , Ohkawara B , Shen XM , Selcen D , Engel AG |
| Ref : Int J Mol Sci , 24 : , 2023 |
| Abstract : Ohno_2023_Int.J.Mol.Sci_24_ |
| ESTHER : Ohno_2023_Int.J.Mol.Sci_24_ |
| PubMedSearch : Ohno_2023_Int.J.Mol.Sci_24_ |
| PubMedID: 36835142 |
| Gene_locus related to this paper: human-PREPL |
| Title : Congenital Myasthenic Syndromes in 2018 - Engel_2018_Curr.Neurol.Neurosci.Rep_18_46 |
| Author(s) : Engel AG |
| Ref : Curr Neurol Neurosci Rep , 18 :46 , 2018 |
| Abstract : Engel_2018_Curr.Neurol.Neurosci.Rep_18_46 |
| ESTHER : Engel_2018_Curr.Neurol.Neurosci.Rep_18_46 |
| PubMedSearch : Engel_2018_Curr.Neurol.Neurosci.Rep_18_46 |
| PubMedID: 29892917 |
| Title : Genetic basis and phenotypic features of congenital myasthenic syndromes - Engel_2018_Handb.Clin.Neurol_148_565 |
| Author(s) : Engel AG |
| Ref : Handb Clin Neurol , 148 :565 , 2018 |
| Abstract : Engel_2018_Handb.Clin.Neurol_148_565 |
| ESTHER : Engel_2018_Handb.Clin.Neurol_148_565 |
| PubMedSearch : Engel_2018_Handb.Clin.Neurol_148_565 |
| PubMedID: 29478601 |
| Title : The unfolding landscape of the congenital myasthenic syndromes - Engel_2018_Ann.N.Y.Acad.Sci_1413_25 |
| Author(s) : Engel AG , Shen XM , Selcen D |
| Ref : Annals of the New York Academy of Sciences , 1413 :25 , 2018 |
| Abstract : Engel_2018_Ann.N.Y.Acad.Sci_1413_25 |
| ESTHER : Engel_2018_Ann.N.Y.Acad.Sci_1413_25 |
| PubMedSearch : Engel_2018_Ann.N.Y.Acad.Sci_1413_25 |
| PubMedID: 29355968 |
| Title : Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights - Yis_2017_J.Child.Neurol__883073817705252 |
| Author(s) : Yis U , Becker K , Kurul SH , Uyanik G , Bayram E , Haliloglu G , Polat AI , Ayanoglu M , Okur D , Tosun AF , Serdaroglu G , Yilmaz S , Topaloglu H , Anlar B , Cirak S , Engel AG |
| Ref : Journal of Child Neurology , :883073817705252 , 2017 |
| Abstract : Yis_2017_J.Child.Neurol__883073817705252 |
| ESTHER : Yis_2017_J.Child.Neurol__883073817705252 |
| PubMedSearch : Yis_2017_J.Child.Neurol__883073817705252 |
| PubMedID: 28464723 |
| Title : Collagen Q and anti-MuSK autoantibody competitively suppress agrin\/LRP4\/MuSK signaling - Otsuka_2015_Sci.Rep_5_13928 |
| Author(s) : Otsuka K , Ito M , Ohkawara B , Masuda A , Kawakami Y , Sahashi K , Nishida H , Mabuchi N , Takano A , Engel AG , Ohno K |
| Ref : Sci Rep , 5 :13928 , 2015 |
| Abstract : Otsuka_2015_Sci.Rep_5_13928 |
| ESTHER : Otsuka_2015_Sci.Rep_5_13928 |
| PubMedSearch : Otsuka_2015_Sci.Rep_5_13928 |
| PubMedID: 26355076 |
| Title : SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome - Rahman_2015_Sci.Rep_5_13208 |
| Author(s) : Rahman MA , Azuma Y , Nasrin F , Takeda J , Nazim M , Ahsan KB , Masuda A , Engel AG , Ohno K |
| Ref : Sci Rep , 5 :13208 , 2015 |
| Abstract : Rahman_2015_Sci.Rep_5_13208 |
| ESTHER : Rahman_2015_Sci.Rep_5_13208 |
| PubMedSearch : Rahman_2015_Sci.Rep_5_13208 |
| PubMedID: 26282582 |
| Title : Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia - Selcen_2015_JAMA.Neurol_72_889 |
| Author(s) : Selcen D , Ohkawara B , Shen XM , McEvoy K , Ohno K , Engel AG |
| Ref : JAMA Neurol , 72 :889 , 2015 |
| Abstract : Selcen_2015_JAMA.Neurol_72_889 |
| ESTHER : Selcen_2015_JAMA.Neurol_72_889 |
| PubMedSearch : Selcen_2015_JAMA.Neurol_72_889 |
| PubMedID: 26052878 |
| Title : PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome - Regal_2014_Neurology_82_1254 |
| Author(s) : Regal L , Shen XM , Selcen D , Verhille C , Meulemans S , Creemers JW , Engel AG |
| Ref : Neurology , 82 :1254 , 2014 |
| Abstract : Regal_2014_Neurology_82_1254 |
| ESTHER : Regal_2014_Neurology_82_1254 |
| PubMedSearch : Regal_2014_Neurology_82_1254 |
| PubMedID: 24610330 |
| Gene_locus related to this paper: human-PREPL |
| Title : Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis - Ohno_2013_Chem.Biol.Interact_203_335 |
| Author(s) : Ohno K , Ito M , Kawakami Y , Krejci E , Engel AG |
| Ref : Chemico-Biological Interactions , 203 :335 , 2013 |
| Abstract : Ohno_2013_Chem.Biol.Interact_203_335 |
| ESTHER : Ohno_2013_Chem.Biol.Interact_203_335 |
| PubMedSearch : Ohno_2013_Chem.Biol.Interact_203_335 |
| PubMedID: 22981737 |
| Title : Current status of the congenital myasthenic syndromes - Engel_2012_Neuromuscul.Disord_22_99 |
| Author(s) : Engel AG |
| Ref : Neuromuscular Disorders , 22 :99 , 2012 |
| Abstract : Engel_2012_Neuromuscul.Disord_22_99 |
| ESTHER : Engel_2012_Neuromuscul.Disord_22_99 |
| PubMedSearch : Engel_2012_Neuromuscul.Disord_22_99 |
| PubMedID: 22104196 |
| Title : Congenital myasthenic syndromes in 2012 - Engel_2012_Curr.Neurol.Neurosci.Rep_12_92 |
| Author(s) : Engel AG |
| Ref : Curr Neurol Neurosci Rep , 12 :92 , 2012 |
| Abstract : Engel_2012_Curr.Neurol.Neurosci.Rep_12_92 |
| ESTHER : Engel_2012_Curr.Neurol.Neurosci.Rep_12_92 |
| PubMedSearch : Engel_2012_Curr.Neurol.Neurosci.Rep_12_92 |
| PubMedID: 21997714 |
| Title : Highly fatal fast-channel syndrome caused by AChR epsilon subunit mutation at the agonist binding site - Shen_2012_Neurology_79_449 |
| Author(s) : Shen XM , Brengman JM , Edvardson S , Sine SM , Engel AG |
| Ref : Neurology , 79 :449 , 2012 |
| Abstract : Shen_2012_Neurology_79_449 |
| ESTHER : Shen_2012_Neurology_79_449 |
| PubMedSearch : Shen_2012_Neurology_79_449 |
| PubMedID: 22592360 |
| Title : Myasthenic syndrome AChRalpha C-loop mutant disrupts initiation of channel gating - Shen_2012_J.Clin.Invest_122_2613 |
| Author(s) : Shen XM , Brengman JM , Sine SM , Engel AG |
| Ref : J Clinical Investigation , 122 :2613 , 2012 |
| Abstract : Shen_2012_J.Clin.Invest_122_2613 |
| ESTHER : Shen_2012_J.Clin.Invest_122_2613 |
| PubMedSearch : Shen_2012_J.Clin.Invest_122_2613 |
| PubMedID: 22728938 |
| Title : Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol - Chan_2012_Pediatr.Neurol_47_137 |
| Author(s) : Chan SH , Wong VC , Engel AG |
| Ref : Pediatr Neurol , 47 :137 , 2012 |
| Abstract : Chan_2012_Pediatr.Neurol_47_137 |
| ESTHER : Chan_2012_Pediatr.Neurol_47_137 |
| PubMedSearch : Chan_2012_Pediatr.Neurol_47_137 |
| PubMedID: 22759693 |
| Title : Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations - Sadeh_2011_Muscle.Nerve_44_289 |
| Author(s) : Sadeh M , Shen XM , Engel AG |
| Ref : Muscle & Nerve , 44 :289 , 2011 |
| Abstract : Sadeh_2011_Muscle.Nerve_44_289 |
| ESTHER : Sadeh_2011_Muscle.Nerve_44_289 |
| PubMedSearch : Sadeh_2011_Muscle.Nerve_44_289 |
| PubMedID: 21721016 |
| Title : Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia - Liewluck_2011_Muscle.Nerve_44_789 |
| Author(s) : Liewluck T , Selcen D , Engel AG |
| Ref : Muscle & Nerve , 44 :789 , 2011 |
| Abstract : Liewluck_2011_Muscle.Nerve_44_789 |
| ESTHER : Liewluck_2011_Muscle.Nerve_44_789 |
| PubMedSearch : Liewluck_2011_Muscle.Nerve_44_789 |
| PubMedID: 21952943 |
| Title : Anti-MuSK autoantibodies block binding of collagen Q to MuSK - Kawakami_2011_Neurology_77_1819 |
| Author(s) : Kawakami Y , Ito M , Hirayama M , Sahashi K , Ohkawara B , Masuda A , Nishida H , Mabuchi N , Engel AG , Ohno K |
| Ref : Neurology , 77 :1819 , 2011 |
| Abstract : Kawakami_2011_Neurology_77_1819 |
| ESTHER : Kawakami_2011_Neurology_77_1819 |
| PubMedSearch : Kawakami_2011_Neurology_77_1819 |
| PubMedID: 22013178 |
| Title : What have we learned from the congenital myasthenic syndromes - Engel_2010_J.Mol.Neurosci_40_143 |
| Author(s) : Engel AG , Shen XM , Selcen D , Sine SM |
| Ref : Journal of Molecular Neuroscience , 40 :143 , 2010 |
| Abstract : Engel_2010_J.Mol.Neurosci_40_143 |
| ESTHER : Engel_2010_J.Mol.Neurosci_40_143 |
| PubMedSearch : Engel_2010_J.Mol.Neurosci_40_143 |
| PubMedID: 19688192 |
| Title : Recent structural and mechanistic insights into endplate acetylcholine receptors - Sine_2008_Ann.N.Y.Acad.Sci_1132_53 |
| Author(s) : Sine SM , Gao F , Lee WY , Mukhtasimova N , Wang HL , Engel AG |
| Ref : Annals of the New York Academy of Sciences , 1132 :53 , 2008 |
| Abstract : Sine_2008_Ann.N.Y.Acad.Sci_1132_53 |
| ESTHER : Sine_2008_Ann.N.Y.Acad.Sci_1132_53 |
| PubMedSearch : Sine_2008_Ann.N.Y.Acad.Sci_1132_53 |
| PubMedID: 18567853 |
| Title : Further observations in congenital myasthenic syndromes - Engel_2008_Ann.N.Y.Acad.Sci_1132_104 |
| Author(s) : Engel AG , Shen XM , Selcen D , Sine SM |
| Ref : Annals of the New York Academy of Sciences , 1132 :104 , 2008 |
| Abstract : Engel_2008_Ann.N.Y.Acad.Sci_1132_104 |
| ESTHER : Engel_2008_Ann.N.Y.Acad.Sci_1132_104 |
| PubMedSearch : Engel_2008_Ann.N.Y.Acad.Sci_1132_104 |
| PubMedID: 18567859 |
| Title : Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating - Shen_2008_J.Clin.Invest_118_1867 |
| Author(s) : Shen XM , Fukuda T , Ohno K , Sine SM , Engel AG |
| Ref : J Clinical Investigation , 118 :1867 , 2008 |
| Abstract : Shen_2008_J.Clin.Invest_118_1867 |
| ESTHER : Shen_2008_J.Clin.Invest_118_1867 |
| PubMedSearch : Shen_2008_J.Clin.Invest_118_1867 |
| PubMedID: 18398509 |
| Title : The therapy of congenital myasthenic syndromes - Engel_2007_Neurotherapeutics_4_252 |
| Author(s) : Engel AG |
| Ref : Neurotherapeutics , 4 :252 , 2007 |
| Abstract : Engel_2007_Neurotherapeutics_4_252 |
| ESTHER : Engel_2007_Neurotherapeutics_4_252 |
| PubMedSearch : Engel_2007_Neurotherapeutics_4_252 |
| PubMedID: 17395135 |
| Title : Recent advances in Cys-loop receptor structure and function - Sine_2006_Nature_440_448 |
| Author(s) : Sine SM , Engel AG |
| Ref : Nature , 440 :448 , 2006 |
| Abstract : Sine_2006_Nature_440_448 |
| ESTHER : Sine_2006_Nature_440_448 |
| PubMedSearch : Sine_2006_Nature_440_448 |
| PubMedID: 16554804 |
| Title : Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown - Shen_2006_Ann.Neurol_60_128 |
| Author(s) : Shen XM , Deymeer F , Sine SM , Engel AG |
| Ref : Annals of Neurology , 60 :128 , 2006 |
| Abstract : Shen_2006_Ann.Neurol_60_128 |
| ESTHER : Shen_2006_Ann.Neurol_60_128 |
| PubMedSearch : Shen_2006_Ann.Neurol_60_128 |
| PubMedID: 16685696 |
| Title : Current understanding of congenital myasthenic syndromes - Engel_2005_Curr.Opin.Pharmacol_5_308 |
| Author(s) : Engel AG , Sine SM |
| Ref : Curr Opin Pharmacol , 5 :308 , 2005 |
| Abstract : Engel_2005_Curr.Opin.Pharmacol_5_308 |
| ESTHER : Engel_2005_Curr.Opin.Pharmacol_5_308 |
| PubMedSearch : Engel_2005_Curr.Opin.Pharmacol_5_308 |
| PubMedID: 15907919 |
| Title : Congenital endplate acetylcholinesterase deficiency responsive to ephedrine - Bestue-Cardiel_2005_Neurology_65_144 |
| Author(s) : Bestue-Cardiel M , Saenz de Cabezon-Alvarez A , Capablo-Liesa JL , Lopez-Pison J , Pena-Segura JL , Martin-Martinez J , Engel AG |
| Ref : Neurology , 65 :144 , 2005 |
| Abstract : Bestue-Cardiel_2005_Neurology_65_144 |
| ESTHER : Bestue-Cardiel_2005_Neurology_65_144 |
| PubMedSearch : Bestue-Cardiel_2005_Neurology_65_144 |
| PubMedID: 16009904 |
| Title : Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker - Shen_2005_Brain_128_345 |
| Author(s) : Shen XM , Ohno K , Sine SM , Engel AG |
| Ref : Brain , 128 :345 , 2005 |
| Abstract : Shen_2005_Brain_128_345 |
| ESTHER : Shen_2005_Brain_128_345 |
| PubMedSearch : Shen_2005_Brain_128_345 |
| PubMedID: 15615813 |
| Title : C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse - Kimbell_2004_J.Biol.Chem_279_10997 |
| Author(s) : Kimbell LM , Ohno K , Engel AG , Rotundo RL |
| Ref : Journal of Biological Chemistry , 279 :10997 , 2004 |
| Abstract : Kimbell_2004_J.Biol.Chem_279_10997 |
| ESTHER : Kimbell_2004_J.Biol.Chem_279_10997 |
| PubMedSearch : Kimbell_2004_J.Biol.Chem_279_10997 |
| PubMedID: 14702351 |
| Title : Structural abnormalities at neuromuscular synapses lacking multiple syntrophin isoforms - Adams_2004_J.Neurosci_24_10302 |
| Author(s) : Adams ME , Kramarcy N , Fukuda T , Engel AG , Sealock R , Froehner SC |
| Ref : Journal of Neuroscience , 24 :10302 , 2004 |
| Abstract : Adams_2004_J.Neurosci_24_10302 |
| ESTHER : Adams_2004_J.Neurosci_24_10302 |
| PubMedSearch : Adams_2004_J.Neurosci_24_10302 |
| PubMedID: 15548643 |
| Title : Are MuSK antibodies the primary cause of myasthenic symptoms? - Selcen_2004_Neurology_62_1945 |
| Author(s) : Selcen D , Fukuda T , Shen XM , Engel AG |
| Ref : Neurology , 62 :1945 , 2004 |
| Abstract : Selcen_2004_Neurology_62_1945 |
| ESTHER : Selcen_2004_Neurology_62_1945 |
| PubMedSearch : Selcen_2004_Neurology_62_1945 |
| PubMedID: 15184594 |
| Title : Poster (88) Analysis of human collagenic tailed acetylcholinesterase binding to the frog neuromuscular junction and to perlecan - |
| Author(s) : Kimbell L , Ohno K , Engel AG , Rotundo RL |
| Ref : In: Cholinesterases in the Second Millennium: Biomolecular and Pathological Aspects , (Inestrosa NC, Campos EO) P. Universidad Catolica de Chile-FONDAP Biomedicina :367 , 2004 |
| PubMedID: |
| Title : Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine - Banwell_2004_Neuromuscul.Disord_14_202 |
| Author(s) : Banwell BL , Ohno K , Sieb JP , Engel AG |
| Ref : Neuromuscular Disorders , 14 :202 , 2004 |
| Abstract : Banwell_2004_Neuromuscul.Disord_14_202 |
| ESTHER : Banwell_2004_Neuromuscul.Disord_14_202 |
| PubMedSearch : Banwell_2004_Neuromuscul.Disord_14_202 |
| PubMedID: 15036330 |
| Title : Mechanistic diversity underlying fast channel congenital myasthenic syndromes - Sine_2003_Ann.N.Y.Acad.Sci_998_128 |
| Author(s) : Sine SM , Wang HL , Ohno K , Shen XM , Lee WY , Engel AG |
| Ref : Annals of the New York Academy of Sciences , 998 :128 , 2003 |
| Abstract : Sine_2003_Ann.N.Y.Acad.Sci_998_128 |
| ESTHER : Sine_2003_Ann.N.Y.Acad.Sci_998_128 |
| PubMedSearch : Sine_2003_Ann.N.Y.Acad.Sci_998_128 |
| PubMedID: 14592870 |
| Title : Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction - Engel_2003_Ann.N.Y.Acad.Sci_998_138 |
| Author(s) : Engel AG , Ohno K , Shen XM , Sine SM |
| Ref : Annals of the New York Academy of Sciences , 998 :138 , 2003 |
| Abstract : Engel_2003_Ann.N.Y.Acad.Sci_998_138 |
| ESTHER : Engel_2003_Ann.N.Y.Acad.Sci_998_138 |
| PubMedSearch : Engel_2003_Ann.N.Y.Acad.Sci_998_138 |
| PubMedID: 14592871 |
| Title : Congenital myasthenic syndromes: A diverse array of molecular targets - Engel_2003_J.Neurocytol_32_1017 |
| Author(s) : Engel AG , Ohno K , Sine SM |
| Ref : Journal of Neurocytology , 32 :1017 , 2003 |
| Abstract : Engel_2003_J.Neurocytol_32_1017 |
| ESTHER : Engel_2003_J.Neurocytol_32_1017 |
| PubMedSearch : Engel_2003_J.Neurocytol_32_1017 |
| PubMedID: 15034283 |
| Title : Congenital myasthenic syndromes: progress over the past decade - Engel_2003_Muscle.Nerve_27_4 |
| Author(s) : Engel AG , Ohno K , Sine SM |
| Ref : Muscle & Nerve , 27 :4 , 2003 |
| Abstract : Engel_2003_Muscle.Nerve_27_4 |
| ESTHER : Engel_2003_Muscle.Nerve_27_4 |
| PubMedSearch : Engel_2003_Muscle.Nerve_27_4 |
| PubMedID: 12508290 |
| Title : Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating - Shen_2003_J.Clin.Invest_111_497 |
| Author(s) : Shen XM , Ohno K , Tsujino A , Brengman JM , Gingold M , Sine SM , Engel AG |
| Ref : J Clinical Investigation , 111 :497 , 2003 |
| Abstract : Shen_2003_J.Clin.Invest_111_497 |
| ESTHER : Shen_2003_J.Clin.Invest_111_497 |
| PubMedSearch : Shen_2003_J.Clin.Invest_111_497 |
| PubMedID: 12588888 |
| Title : Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating - Sine_2002_J.Gen.Physiol_120_483 |
| Author(s) : Sine SM , Shen XM , Wang HL , Ohno K , Lee WY , Tsujino A , Brengmann J , Bren N , Vajsar J , Engel AG |
| Ref : Journal of General Physiology , 120 :483 , 2002 |
| Abstract : Sine_2002_J.Gen.Physiol_120_483 |
| ESTHER : Sine_2002_J.Gen.Physiol_120_483 |
| PubMedSearch : Sine_2002_J.Gen.Physiol_120_483 |
| PubMedID: 12356851 |
| Title : Three novel COLQ mutations and variation of phenotypic expressivity due to G240X - Shapira_2002_Neurology_58_603 |
| Author(s) : Shapira YA , Sadeh ME , Bergtraum MP , Tsujino A , Ohno K , Shen XM , Brengman J , Edwardson S , Matoth I , Engel AG |
| Ref : Neurology , 58 :603 , 2002 |
| Abstract : Shapira_2002_Neurology_58_603 |
| ESTHER : Shapira_2002_Neurology_58_603 |
| PubMedSearch : Shapira_2002_Neurology_58_603 |
| PubMedID: 11865139 |
| Title : Congenital myasthenic syndromes: genetic defects of the neuromuscular junction - Ohno_2002_Curr.Neurol.Neurosci.Rep_2_78 |
| Author(s) : Ohno K , Engel AG |
| Ref : Curr Neurol Neurosci Rep , 2 :78 , 2002 |
| Abstract : Ohno_2002_Curr.Neurol.Neurosci.Rep_2_78 |
| ESTHER : Ohno_2002_Curr.Neurol.Neurosci.Rep_2_78 |
| PubMedSearch : Ohno_2002_Curr.Neurol.Neurosci.Rep_2_78 |
| PubMedID: 11898587 |
| Title : The spectrum of congenital myasthenic syndromes - Engel_2002_Mol.Neurobiol_26_347 |
| Author(s) : Engel AG , Ohno K , Sine SM |
| Ref : Molecular Neurobiology , 26 :347 , 2002 |
| Abstract : Engel_2002_Mol.Neurobiol_26_347 |
| ESTHER : Engel_2002_Mol.Neurobiol_26_347 |
| PubMedSearch : Engel_2002_Mol.Neurobiol_26_347 |
| PubMedID: 12428764 |
| Title : Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome - Wang_2000_J.Gen.Physiol_116_449 |
| Author(s) : Wang HL , Ohno K , Milone M , Brengman JM , Evoli A , Batocchi AP , Middleton LT , Christodoulou K , Engel AG , Sine SM |
| Ref : Journal of General Physiology , 116 :449 , 2000 |
| Abstract : Wang_2000_J.Gen.Physiol_116_449 |
| ESTHER : Wang_2000_J.Gen.Physiol_116_449 |
| PubMedSearch : Wang_2000_J.Gen.Physiol_116_449 |
| PubMedID: 10962020 |
| Title : The spectrum of mutations causing end-plate acetylcholinesterase deficiency - Ohno_2000_Ann.Neurol_47_162 |
| Author(s) : Ohno K , Engel AG , Brengman JM , Shen XM , Heidenreich F , Vincent A , Milone M , Tan E , Demirci M , Walsh P , Nakano S , Akiguchi I |
| Ref : Annals of Neurology , 47 :162 , 2000 |
| Abstract : Ohno_2000_Ann.Neurol_47_162 |
| ESTHER : Ohno_2000_Ann.Neurol_47_162 |
| PubMedSearch : Ohno_2000_Ann.Neurol_47_162 |
| PubMedID: 10665486 |
| Title : Congenital myasthenic syndromes: recent advances - Engel_1999_Arch.Neurol_56_163 |
| Author(s) : Engel AG , Ohno K , Sine SM |
| Ref : Archives of Neurology , 56 :163 , 1999 |
| Abstract : Engel_1999_Arch.Neurol_56_163 |
| ESTHER : Engel_1999_Arch.Neurol_56_163 |
| PubMedSearch : Engel_1999_Arch.Neurol_56_163 |
| PubMedID: 10025421 |
| Title : Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating - Wang_1999_Nat.Neurosci_2_226 |
| Author(s) : Wang HL , Milone M , Ohno K , Shen XM , Tsujino A , Batocchi AP , Tonali P , Brengman J , Engel AG , Sine SM |
| Ref : Nat Neurosci , 2 :226 , 1999 |
| Abstract : Wang_1999_Nat.Neurosci_2_226 |
| ESTHER : Wang_1999_Nat.Neurosci_2_226 |
| PubMedSearch : Wang_1999_Nat.Neurosci_2_226 |
| PubMedID: 10195214 |
| Title : Mutation causing congenital myasthenia reveals acetylcholine receptor beta\/delta subunit interaction essential for assembly - Quiram_1999_J.Clin.Invest_104_1403 |
| Author(s) : Quiram PA , Ohno K , Milone M , Patterson MC , Pruitt NJ , Brengman JM , Sine SM , Engel AG |
| Ref : J Clinical Investigation , 104 :1403 , 1999 |
| Abstract : Quiram_1999_J.Clin.Invest_104_1403 |
| ESTHER : Quiram_1999_J.Clin.Invest_104_1403 |
| PubMedSearch : Quiram_1999_J.Clin.Invest_104_1403 |
| PubMedID: 10562302 |
| Title : Congenital End-Plate Acetylcholinesterase Deficiency Caused by a Nonsense Mutation and an A-->G Splice-Donor-Site Mutation at Position +3 of the Collagenlike-Tail-Subunit Gene (COLQ): How Does G at Position +3 Result in Aberrant Splicing? - Ohno_1999_Am.J.Hum.Genet_65_635 |
| Author(s) : Ohno K , Brengman JM , Felice KJ , Cornblath DR , Engel AG |
| Ref : American Journal of Human Genetics , 65 :635 , 1999 |
| Abstract : Ohno_1999_Am.J.Hum.Genet_65_635 |
| ESTHER : Ohno_1999_Am.J.Hum.Genet_65_635 |
| PubMedSearch : Ohno_1999_Am.J.Hum.Genet_65_635 |
| PubMedID: 10441569 |
| Title : Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit - Milone_1998_Neuron_20_575 |
| Author(s) : Milone M , Wang HL , Ohno K , Prince R , Fukudome T , Shen XM , Brengman JM , Griggs RC , Sine SM , Engel AG |
| Ref : Neuron , 20 :575 , 1998 |
| Abstract : Milone_1998_Neuron_20_575 |
| ESTHER : Milone_1998_Neuron_20_575 |
| PubMedSearch : Milone_1998_Neuron_20_575 |
| PubMedID: 9539130 |
| Title : Congenital myasthenic syndromes: experiments of nature - Engel_1998_J.Physiol.Paris_92_113 |
| Author(s) : Engel AG , Ohno K , Sine SM |
| Ref : Journal de Physiologie (Paris) , 92 :113 , 1998 |
| Abstract : Engel_1998_J.Physiol.Paris_92_113 |
| ESTHER : Engel_1998_J.Physiol.Paris_92_113 |
| PubMedSearch : Engel_1998_J.Physiol.Paris_92_113 |
| PubMedID: 9782453 |
| Title : Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme - Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
| Author(s) : Ohno K , Brengman J , Tsujino A , Engel AG |
| Ref : Proceedings of the National Academy of Sciences of the United States of America , 95 :9654 , 1998 |
| Abstract : Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
| ESTHER : Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
| PubMedSearch : Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
| PubMedID: 9689136 |
| Title : Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation - Wang_1997_J.Gen.Physiol_109_757 |
| Author(s) : Wang HL , Auerbach A , Bren N , Ohno K , Engel AG , Sine SM |
| Ref : Journal of General Physiology , 109 :757 , 1997 |
| Abstract : Wang_1997_J.Gen.Physiol_109_757 |
| ESTHER : Wang_1997_J.Gen.Physiol_109_757 |
| PubMedSearch : Wang_1997_J.Gen.Physiol_109_757 |
| PubMedID: 9222901 |
| Title : Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit - Milone_1997_J.Neurosci_17_5651 |
| Author(s) : Milone M , Wang HL , Ohno K , Fukudome T , Pruitt JN , Bren N , Sine SM , Engel AG |
| Ref : Journal of Neuroscience , 17 :5651 , 1997 |
| Abstract : Milone_1997_J.Neurosci_17_5651 |
| ESTHER : Milone_1997_J.Neurosci_17_5651 |
| PubMedSearch : Milone_1997_J.Neurosci_17_5651 |
| PubMedID: 9221765 |
| Title : Congenital myasthenic syndromes due to heteroallelic nonsense\/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations - Ohno_1997_Hum.Mol.Genet_6_753 |
| Author(s) : Ohno K , Quiram PA , Milone M , Wang HL , Harper MC , Pruitt JN, 2nd , Brengman JM , Pao L , Fischbeck KH , Crawford TO , Sine SM , Engel AG |
| Ref : Hum Mol Genet , 6 :753 , 1997 |
| Abstract : Ohno_1997_Hum.Mol.Genet_6_753 |
| ESTHER : Ohno_1997_Hum.Mol.Genet_6_753 |
| PubMedSearch : Ohno_1997_Hum.Mol.Genet_6_753 |
| PubMedID: 9158150 |
| Title : Treatment of congenital endplate acetylcholinesterase deficiency by neuromuscular blockade - |
| Author(s) : Breningstall GN , Kurachek SC , Fugate JH , Engel AG |
| Ref : Journal of Child Neurology , 11 :345 , 1996 |
| PubMedID: 8807428 |
| Title : Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmission - Sieb_1996_Brain.Res_712_179 |
| Author(s) : Sieb JP , Milone M , Engel AG |
| Ref : Brain Research , 712 :179 , 1996 |
| Abstract : Sieb_1996_Brain.Res_712_179 |
| ESTHER : Sieb_1996_Brain.Res_712_179 |
| PubMedSearch : Sieb_1996_Brain.Res_712_179 |
| PubMedID: 8814892 |
| Title : End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit - Engel_1996_Ann.Neurol_40_810 |
| Author(s) : Engel AG , Ohno K , Bouzat C , Sine SM , Griggs RC |
| Ref : Annals of Neurology , 40 :810 , 1996 |
| Abstract : Engel_1996_Ann.Neurol_40_810 |
| ESTHER : Engel_1996_Ann.Neurol_40_810 |
| PubMedSearch : Engel_1996_Ann.Neurol_40_810 |
| PubMedID: 8957026 |
| Title : New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome - Engel_1996_Hum.Mol.Genet_5_1217 |
| Author(s) : Engel AG , Ohno K , Milone M , Wang HL , Nakano S , Bouzat C , Pruitt JN, 2nd , Hutchinson DO , Brengman JM , Bren N , Sieb JP , Sine SM |
| Ref : Hum Mol Genet , 5 :1217 , 1996 |
| Abstract : Engel_1996_Hum.Mol.Genet_5_1217 |
| ESTHER : Engel_1996_Hum.Mol.Genet_5_1217 |
| PubMedSearch : Engel_1996_Hum.Mol.Genet_5_1217 |
| PubMedID: 8872460 |
| Title : Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit - Ohno_1996_Neuron_17_157 |
| Author(s) : Ohno K , Wang HL , Milone M , Bren N , Brengman JM , Nakano S , Quiram P , Pruitt JN , Sine SM , Engel AG |
| Ref : Neuron , 17 :157 , 1996 |
| Abstract : Ohno_1996_Neuron_17_157 |
| ESTHER : Ohno_1996_Neuron_17_157 |
| PubMedSearch : Ohno_1996_Neuron_17_157 |
| PubMedID: 8755487 |
| Title : Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity - Sine_1995_Neuron_15_229 |
| Author(s) : Sine SM , Ohno K , Bouzat C , Auerbach A , Milone M , Pruitt JN , Engel AG |
| Ref : Neuron , 15 :229 , 1995 |
| Abstract : Sine_1995_Neuron_15_229 |
| ESTHER : Sine_1995_Neuron_15_229 |
| PubMedSearch : Sine_1995_Neuron_15_229 |
| PubMedID: 7619526 |
| Title : Mutations in the Catalytic Subunit of Acetylcholinesterase do not Appear Responsible for Congenital Myasthenic Syndrome Associated with End-Plate Acetylcholinesterase Deficiency - |
| Author(s) : Camp S , Engel AG , Getman DK , Bon S , Massoulie J , Taylor P |
| Ref : In Enzyme of the Cholinesterase Family - Proceedings of Fifth International Meeting on Cholinesterases , (Quinn, D.M., Balasubramanian, A.S., Doctor, B.P., Taylor, P., Eds) Plenum Publishing Corp. :51 , 1995 |
| PubMedID: |
| Title : Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit - Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| Author(s) : Ohno K , Hutchinson DO , Milone M , Brengman JM , Bouzat C , Sine SM , Engel AG |
| Ref : Proc Natl Acad Sci U S A , 92 :758 , 1995 |
| Abstract : Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| ESTHER : Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| PubMedSearch : Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| PubMedID: 7531341 |
| Title : Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits - Camp_1995_J.Clin.Invest_95_333 |
| Author(s) : Camp S , Bon S , Li Y , Getman DK , Engel AG , Massoulie J , Taylor P |
| Ref : Journal of Clinical Investigation , 95 :333 , 1995 |
| Abstract : Camp_1995_J.Clin.Invest_95_333 |
| ESTHER : Camp_1995_J.Clin.Invest_95_333 |
| PubMedSearch : Camp_1995_J.Clin.Invest_95_333 |
| PubMedID: 7814634 |
| 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 : Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor - |
| Author(s) : Engel AG , Hutchinson DO , Nakano S , Murphy L , Griggs RC , Gu Y , Hall ZW , Lindstrom JM |
| Ref : Annals of the New York Academy of Sciences , 681 :496 , 1993 |
| PubMedID: 8357190 |
| 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 : Future prospects of cholinergic research on neuromuscular transmission - |
| Author(s) : Thesleff S , Heilbronn E , Molenaar PC , Engel AG |
| Ref : Prog Brain Res , 84 :171 , 1990 |
| PubMedID: 2176298 |
| 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 |
| Title : Acetylcholinesterase of human erythrocytes and neuromuscular junctions: homologies revealed by monoclonal antibodies - Fambrough_1982_Proc.Natl.Acad.Sci.U.S.A_79_1078 |
| Author(s) : Fambrough DM , Engel AG , Rosenberry TL |
| Ref : Proceedings of the National Academy of Sciences of the United States of America , 79 :1078 , 1982 |
| Abstract : Fambrough_1982_Proc.Natl.Acad.Sci.U.S.A_79_1078 |
| ESTHER : Fambrough_1982_Proc.Natl.Acad.Sci.U.S.A_79_1078 |
| PubMedSearch : Fambrough_1982_Proc.Natl.Acad.Sci.U.S.A_79_1078 |
| PubMedID: 6175961 |
| Title : Passively transferred experimental autoimmune myasthenia gravis. Sequential and quantitative study of the motor end-plate fine structure and ultrastructural localization of immune complexes (IgG and C3), and of the acetylcholine receptor - Engel_1979_Neurology_29_179 |
| Author(s) : Engel AG , Sakakibara H , Sahashi K , Lindstrom JM , Lambert EH , Lennon VA |
| Ref : Neurology , 29 :179 , 1979 |
| Abstract : Engel_1979_Neurology_29_179 |
| ESTHER : Engel_1979_Neurology_29_179 |
| PubMedSearch : Engel_1979_Neurology_29_179 |
| PubMedID: 571062 |
| Title : Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model - Engel_1977_Neurology_27_307 |
| Author(s) : Engel AG , Lindstrom JM , Lambert EH , Lennon VA |
| Ref : Neurology , 27 :307 , 1977 |
| Abstract : Engel_1977_Neurology_27_307 |
| ESTHER : Engel_1977_Neurology_27_307 |
| PubMedSearch : Engel_1977_Neurology_27_307 |
| PubMedID: 557772 |
| Title : Experimental autoimmune myasthenia gravis: a sequential and quantitative study of the neuromuscular junction ultrastructure and electrophysiologic correlations - Engel_1976_J.Neuropathol.Exp.Neurol_35_569 |
| Author(s) : Engel AG , Tsujihata M , Lambert EH , Lindstrom JM , Lennon VA |
| Ref : J Neuropathol Experimental Neurology , 35 :569 , 1976 |
| Abstract : Engel_1976_J.Neuropathol.Exp.Neurol_35_569 |
| ESTHER : Engel_1976_J.Neuropathol.Exp.Neurol_35_569 |
| PubMedSearch : Engel_1976_J.Neuropathol.Exp.Neurol_35_569 |
| PubMedID: 956872 |
| Title : The motor end plate in myasthenia gravis and in experimental autoimmune myasthenia gravis. A quantitative ultrastructural study - Engel_1976_Ann.N.Y.Acad.Sci_274_60 |
| Author(s) : Engel AG , Tsujihata M , Lindstrom JM , Lennon VA |
| Ref : Annals of the New York Academy of Sciences , 274 :60 , 1976 |
| Abstract : Engel_1976_Ann.N.Y.Acad.Sci_274_60 |
| ESTHER : Engel_1976_Ann.N.Y.Acad.Sci_274_60 |
| PubMedSearch : Engel_1976_Ann.N.Y.Acad.Sci_274_60 |
| PubMedID: 1066997 |
| Title : Pathological mechanisms in experimental autoimmune myasthenia gravis. II. Passive transfer of experimental autoimmune myasthenia gravis in rats with anti-acetylcholine recepotr antibodies - Lindstrom_1976_J.Exp.Med_144_739 |
| Author(s) : Lindstrom JM , Engel AG , Seybold ME , Lennon VA , Lambert EH |
| Ref : J Exp Med , 144 :739 , 1976 |
| Abstract : Lindstrom_1976_J.Exp.Med_144_739 |
| ESTHER : Lindstrom_1976_J.Exp.Med_144_739 |
| PubMedSearch : Lindstrom_1976_J.Exp.Med_144_739 |
| PubMedID: 182897 |