Full name : Ohno Kinji
First name : Kinji
Mail : Nagoya University Graduate School of Medicine\; Neurogenetics\; 65 Tsurumai\; Showa-ku\; Nagoya\; 4668550
Zip Code :
City :
Country : Japan
Email : ohnok@med.nagoya-u.ac.jp
Phone : +81527442446
Fax :
Website : \/\/profs.provost.nagoya-u.ac.jp\/view\/html\/100001410_en.html
Directory :
Comment
| 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 : |
| PubMedSearch : Ohno_2023_Int.J.Mol.Sci_24_ |
| PubMedID: 36835142 |
| Gene_locus related to this paper: human-PREPL |
| Title : Expression of alcohol acyltransferase is a potential determinant of fruit volatile ester variations in Capsicum - Koeda_2023_Plant.Cell.Rep__ |
| Author(s) : Koeda S , Noda T , Hachisu S , Kubo A , Tanaka Y , Yamamoto H , Ozaki S , Kinoshita M , Ohno K , Tomi K , Kamiyoshihara Y |
| Ref : Plant Cell Rep , : , 2023 |
| Abstract : |
| PubMedSearch : Koeda_2023_Plant.Cell.Rep__ |
| PubMedID: 37642676 |
| Title : Transcriptome profile of subsynaptic myonuclei at the neuromuscular junction in embryogenesis - Ohkawara_2023_J.Neurochem__ |
| Author(s) : Ohkawara B , Kurokawa M , Kanai A , Imamura K , Chen G , Zhang R , Masuda A , Higashi K , Mori H , Suzuki Y , Kurokawa K , Ohno K |
| Ref : Journal of Neurochemistry , : , 2023 |
| Abstract : |
| PubMedSearch : Ohkawara_2023_J.Neurochem__ |
| PubMedID: 37994470 |
| Title : Gene Expression Profile at the Motor Endplate of the Neuromuscular Junction of Fast-Twitch Muscle - Huang_2020_Front.Mol.Neurosci_13_154 |
| Author(s) : Huang K , Li J , Ito M , Takeda JI , Ohkawara B , Ogi T , Masuda A , Ohno K |
| Ref : Front Mol Neurosci , 13 :154 , 2020 |
| Abstract : |
| PubMedSearch : Huang_2020_Front.Mol.Neurosci_13_154 |
| PubMedID: 33117128 |
| Title : Protein-anchoring therapy to target extracellular matrix proteins to their physiological destinations - Ito_2018_Matrix.Biol_68-69_628 |
| Author(s) : Ito M , Ohno K |
| Ref : Matrix Biol , 68-69 :628 , 2018 |
| Abstract : |
| PubMedSearch : Ito_2018_Matrix.Biol_68-69_628 |
| PubMedID: 29475025 |
| Title : Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoforms - |
| Author(s) : Nazim M , Masuda A , Rahman MA , Nasrin F , Takeda JI , Ohe K , Ohkawara B , Ito M , Ohno K |
| Ref : Nucleic Acids Research , 45 :1455 , 2017 |
| PubMedID: 28180311 |
| Title : Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders - Ohno_2017_Expert.Opin.Ther.Targets_21_949 |
| Author(s) : Ohno K , Ohkawara B , Ito M |
| Ref : Expert Opin Ther Targets , 21 :949 , 2017 |
| Abstract : |
| PubMedSearch : Ohno_2017_Expert.Opin.Ther.Targets_21_949 |
| PubMedID: 28825343 |
| Title : [Studies on therapeutic strategies for congenital myasthenic syndromes.] - Ohno_2017_Clin.Calcium_27_421 |
| Author(s) : Ohno K |
| Ref : Clin Calcium , 27 :421 , 2017 |
| Abstract : |
| PubMedSearch : Ohno_2017_Clin.Calcium_27_421 |
| PubMedID: 28232657 |
| Title : Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction - Ohno_2017_J.Neurochem_142 Suppl 2_64 |
| Author(s) : Ohno K , Rahman MA , Nazim M , Nasrin F , Lin Y , Takeda JI , Masuda A |
| Ref : Journal of Neurochemistry , 142 Suppl 2 :64 , 2017 |
| Abstract : |
| PubMedSearch : Ohno_2017_J.Neurochem_142 Suppl 2_64 |
| PubMedID: 28072465 |
| Title : Effects of donepezil and serotonin reuptake inhibitor on acute regression during adolescence in Down syndrome - Tamasaki_2016_Brain.Dev_38_113 |
| Author(s) : Tamasaki A , Saito Y , Ueda R , Ohno K , Yokoyama K , Satake T , Sakuma H , Takahashi Y , Kondoh T , Maegaki Y |
| Ref : Brain Dev , 38 :113 , 2016 |
| Abstract : |
| PubMedSearch : Tamasaki_2016_Brain.Dev_38_113 |
| PubMedID: 26143664 |
| Title : Roles of collagen Q in MuSK antibody-positive myasthenia gravis - Ohno_2016_Chem.Biol.Interact_259_266 |
| Author(s) : Ohno K , Otsuka K , Ito M |
| Ref : Chemico-Biological Interactions , 259 :266 , 2016 |
| Abstract : |
| PubMedSearch : Ohno_2016_Chem.Biol.Interact_259_266 |
| PubMedID: 27119269 |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Selcen_2015_JAMA.Neurol_72_889 |
| PubMedID: 26052878 |
| Title : Collagen Q is a Key Player for Developing Rational Therapy for Congenital Myasthenia and for Dissecting the Mechanisms of Anti-MuSK Myasthenia Gravis - Ohno_2014_J.Mol.Neurosci_53_359 |
| Author(s) : Ohno K , Ito M , Kawakami Y , Ohtsuka K |
| Ref : Journal of Molecular Neuroscience , 53 :359 , 2014 |
| Abstract : |
| PubMedSearch : Ohno_2014_J.Mol.Neurosci_53_359 |
| PubMedID: 24234034 |
| 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 : |
| PubMedSearch : Ohno_2013_Chem.Biol.Interact_203_335 |
| PubMedID: 22981737 |
| Title : Structural bases of Wolman disease and cholesteryl ester storage disease - Saito_2012_Mol.Genet.Metab_105_244 |
| Author(s) : Saito S , Ohno K , Suzuki T , Sakuraba H |
| Ref : Mol Genet Metab , 105 :244 , 2012 |
| Abstract : |
| PubMedSearch : Saito_2012_Mol.Genet.Metab_105_244 |
| PubMedID: 22138108 |
| Gene_locus related to this paper: human-LIPA |
| Title : Congenital myasthenic syndromes - Ohno_2012_Rinsho.Shinkeigaku_52_1159 |
| Author(s) : Ohno K |
| Ref : Rinsho Shinkeigaku , 52 :1159 , 2012 |
| Abstract : |
| PubMedSearch : Ohno_2012_Rinsho.Shinkeigaku_52_1159 |
| PubMedID: 23196549 |
| Title : Anti-MuSK antibodies in myasthenia gravis block binding of collagen Q to MuSK - Ohno_2012_Rinsho.Shinkeigaku_52_1306 |
| Author(s) : Ohno K |
| Ref : Rinsho Shinkeigaku , 52 :1306 , 2012 |
| Abstract : |
| PubMedSearch : Ohno_2012_Rinsho.Shinkeigaku_52_1306 |
| PubMedID: 23196600 |
| Title : Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction - Ito_2012_Mol.Ther_20_1384 |
| Author(s) : Ito M , Suzuki Y , Okada T , Fukudome T , Yoshimura T , Masuda A , Takeda S , Krejci E , Ohno K |
| Ref : Mol Ther , 20 :1384 , 2012 |
| Abstract : |
| PubMedSearch : Ito_2012_Mol.Ther_20_1384 |
| PubMedID: 22371845 |
| 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 : |
| PubMedSearch : Kawakami_2011_Neurology_77_1819 |
| PubMedID: 22013178 |
| Title : [Genetic defects and disorders at the neuromuscular junction] - Ohno_2011_Brain.Nerve_63_669 |
| Author(s) : Ohno K |
| Ref : Brain Nerve , 63 :669 , 2011 |
| Abstract : |
| PubMedSearch : Ohno_2011_Brain.Nerve_63_669 |
| PubMedID: 21747136 |
| Title : Structural basis of neuronal ceroid lipofuscinosis 1 - Ohno_2010_Brain.Dev_32_524 |
| Author(s) : Ohno K , Saito S , Sugawara K , Suzuki T , Togawa T , Sakuraba H |
| Ref : Brain Dev , 32 :524 , 2010 |
| Abstract : |
| PubMedSearch : Ohno_2010_Brain.Dev_32_524 |
| PubMedID: 19793631 |
| Gene_locus related to this paper: human-PPT1 |
| Title : [Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse] - Ohno_2009_Nihon.Shinkei.Seishin.Yakurigaku.Zasshi_29_145 |
| Author(s) : Ohno K , Ito M , Masuda A |
| Ref : Nihon Shinkei Seishin Yakurigaku Zasshi , 29 :145 , 2009 |
| Abstract : |
| PubMedSearch : Ohno_2009_Nihon.Shinkei.Seishin.Yakurigaku.Zasshi_29_145 |
| PubMedID: 19764481 |
| Title : Viral vector-mediated [corrected] expression of human collagen Q in cultured cells - Ito_2008_Chem.Biol.Interact_175_346 |
| Author(s) : Ito M , Masuda A , Jinno S , Katagiri T , Krejci E , Ohno K |
| Ref : Chemico-Biological Interactions , 175 :346 , 2008 |
| Abstract : |
| PubMedSearch : Ito_2008_Chem.Biol.Interact_175_346 |
| PubMedID: 18374322 |
| 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 : |
| PubMedSearch : Shen_2008_J.Clin.Invest_118_1867 |
| PubMedID: 18398509 |
| Title : Synaptic scaffolding molecule (S-SCAM) membrane-associated guanylate kinase with inverted organization (MAGI)-2 is associated with cell adhesion molecules at inhibitory synapses in rat hippocampal neurons - Sumita_2007_J.Neurochem_100_154 |
| Author(s) : Sumita K , Sato Y , Iida J , Kawata A , Hamano M , Hirabayashi S , Ohno K , Peles E , Hata Y |
| Ref : Journal of Neurochemistry , 100 :154 , 2007 |
| Abstract : |
| PubMedSearch : Sumita_2007_J.Neurochem_100_154 |
| PubMedID: 17059560 |
| 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 : |
| PubMedSearch : Shen_2005_Brain_128_345 |
| PubMedID: 15615813 |
| 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 : |
| PubMedSearch : Banwell_2004_Neuromuscul.Disord_14_202 |
| PubMedID: 15036330 |
| 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 : |
| PubMedSearch : Kimbell_2004_J.Biol.Chem_279_10997 |
| PubMedID: 14702351 |
| 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 : 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 : |
| PubMedSearch : Sine_2003_Ann.N.Y.Acad.Sci_998_128 |
| PubMedID: 14592870 |
| 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 : |
| PubMedSearch : Engel_2003_Muscle.Nerve_27_4 |
| PubMedID: 12508290 |
| 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 : |
| 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 : |
| PubMedSearch : Engel_2003_J.Neurocytol_32_1017 |
| PubMedID: 15034283 |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Shapira_2002_Neurology_58_603 |
| PubMedID: 11865139 |
| 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 : |
| PubMedSearch : Engel_2002_Mol.Neurobiol_26_347 |
| PubMedID: 12428764 |
| 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 : |
| PubMedSearch : Ohno_2002_Curr.Neurol.Neurosci.Rep_2_78 |
| PubMedID: 11898587 |
| 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 : |
| 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 : |
| PubMedSearch : Ohno_2000_Ann.Neurol_47_162 |
| PubMedID: 10665486 |
| 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 : |
| PubMedSearch : Ohno_1999_Am.J.Hum.Genet_65_635 |
| PubMedID: 10441569 |
| 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 : |
| 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 : |
| PubMedSearch : Quiram_1999_J.Clin.Invest_104_1403 |
| PubMedID: 10562302 |
| 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 : |
| PubMedSearch : Engel_1999_Arch.Neurol_56_163 |
| PubMedID: 10025421 |
| 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 : |
| PubMedSearch : Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
| PubMedID: 9689136 |
| 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 : |
| 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 : |
| PubMedSearch : Engel_1998_J.Physiol.Paris_92_113 |
| PubMedID: 9782453 |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Ohno_1997_Hum.Mol.Genet_6_753 |
| PubMedID: 9158150 |
| 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 : |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Sine_1995_Neuron_15_229 |
| PubMedID: 7619526 |
| 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 : |
| PubMedSearch : Ohno_1995_Proc.Natl.Acad.Sci.U.S.A_92_758 |
| PubMedID: 7531341 |