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Kinji Ohno

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TOP 3
Duygu Selcen; V C Juel; L D Hobson-Webb; E C Smith; D E Stickler; A V Bite; Kinji Ohno; Andrew G Engel
Myasthenic syndrome caused by plectinopathy.
Xin-Ming Shen; Taku Fukuda; Kinji Ohno; Steven M Sine; Andrew G Engel
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
Kinji Ohno; Akira Tsujino; Xin-Ming Shen; Margherita Milone; Andrew G Engel
Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.

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All Publications

2011: Duygu Selcen; V C Juel; L D Hobson-Webb; E C Smith; D E Stickler; A V Bite; Kinji Ohno; Andrew G Engel
Myasthenic syndrome caused by plectinopathy.
Neurology 2011;76(4):327-36.
2008: Xin-Ming Shen; Taku Fukuda; Kinji Ohno; Steven M Sine; Andrew G Engel
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
The Journal of clinical investigation 2008;118(5):1867-76.
2005: Kinji Ohno; Akira Tsujino; Xin-Ming Shen; Margherita Milone; Andrew G Engel
Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.
Journal of medical genetics 2005;42(8):e53.
2005: Xin-Ming Shen; Kinji Ohno; Steven M Sine; Andrew G Engel
Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.
Brain : a journal of neurology 2005;128(Pt 2):345-55.
2004: Duygu Selcen; Kinji Ohno; Andrew G Engel
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Brain : a journal of neurology 2004;127(Pt 2):439-51.
2004: Kinji Ohno; Andrew G Engel
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
Journal of medical genetics 2004;41(1):e8.
2003: Kinji Ohno; Margherita Milone; Xin-Ming Shen; Andrew G Engel
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.
Human molecular genetics 2003;12(23):3055-66.
2003: Steven M Sine; Hai-Long Wang; Kinji Ohno; Xin-Ming Shen; Won Yong Lee; Andrew G Engel
Mechanistic diversity underlying fast channel congenital myasthenic syndromes.
Annals of the New York Academy of Sciences 2003;998():128-37.
2003: Akira Tsujino; Chantal Maertens; Kinji Ohno; Xin-Ming Shen; Taku Fukuda; C Michel Harper; Stephen C Cannon; Andrew G Engel
Myasthenic syndrome caused by mutation of the SCN4A sodium channel.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(12):7377-82.
2003: Andrew G Engel; Kinji Ohno; Steven M Sine
Congenital myasthenic syndromes: A diverse array of molecular targets.
Journal of neurocytology 2003;32(5-8):1017-37.
2003: Andrew G Engel; Kinji Ohno; Steven M Sine
Sleuthing molecular targets for neurological diseases at the neuromuscular junction.
Nature reviews. Neuroscience 2003;4(5):339-52.
2003: Kinji Ohno; Menachem Sadeh; Ilan Blatt; Joan M Brengman; Andrew G Engel
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
Human molecular genetics 2003;12(7):739-48.
2003: Xin-Ming Shen; Kinji Ohno; Akira Tsujino; Joan M Brengman; Monique Gingold; Steven M Sine; Andrew G Engel
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.
The Journal of clinical investigation 2003;111(4):497-505.
2003: Kinji Ohno; Andrew G Engel
Congenital myasthenic syndromes.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(5):227-8.
2003: Andrew G Engel; Kinji Ohno; Steven M Sine
Congenital myasthenic syndromes: progress over the past decade.
Muscle & nerve 2003;27(1):4-25.
2002: Xin-Ming Shen; Kinji Ohno; T Fukudome; Akira Tsujino; Joan M Brengman; D C De Vivo; R J Packer; Andrew G Engel
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.
Neurology 2002;59(12):1881-8.
2002: Andrew G Engel; Kinji Ohno; Steven M Sine
The spectrum of congenital myasthenic syndromes.
Molecular neurobiology 2002;26(2-3):347-67.
2002: Steven M Sine; Xin-Ming Shen; Hai-Long Wang; Kinji Ohno; Won-Yong Lee; Akira Tsujino; Joan Brengmann; Nina Bren; Jiri Vajsar; Andrew G Engel
Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.
The Journal of general physiology 2002;120(4):483-96.
2002: R F Byring; Helena Pihko; Akira Tsujino; Xin-Ming Shen; B Gustafsson; Peter Hackman; Kinji Ohno; Andrew G Engel; Bjarne Udd
Congenital myasthenic syndrome associated with episodic apnea and sudden infant death.
Neuromuscular disorders : NMD 2002;12(6):548-53.
2002: Kinji Ohno; Andrew G Engel; Xin-Ming Shen; Duygu Selcen; Joan M Brengman; C Michel Harper; Akira Tsujino; Margherita Milone
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
American journal of human genetics 2002;70(4):875-85.
2002: Yehuda A Shapira; Menachem Sadeh; M P Bergtraum; Akira Tsujino; Kinji Ohno; Xin-Ming Shen; Joan M Brengman; S Edwardson; Israel Matoth; Andrew G Engel
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.
Neurology 2002;58(4):603-9.
2002: Andrew G Engel; Kinji Ohno
Congenital myasthenic syndromes.
Advances in neurology 2002;88():203-15.
2002: Kinji Ohno; Andrew G Engel
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.
Current neurology and neuroscience reports 2002;2(1):78-88.
2001: Kinji Ohno; Akira Tsujino; Joan M Brengman; C Michel Harper; Z Bajzer; Bjarne Udd; R Beyring; S Robb; F J Kirkham; Andrew G Engel
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(4):2017-22.
2000: Hai-Long Wang; Kinji Ohno; Margherita Milone; Joan M Brengman; Amelia Evoli; Anna Paola Batocchi; Lefkos T Middleton; Kyproula Christodoulou; Andrew G Engel; Steven M Sine
Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.
The Journal of general physiology 2000;116(3):449-62.
2000: Kinji Ohno; Andrew G Engel; Joan M Brengman; Xin-Ming Shen; F Heidenreich; A Vincent; Margherita Milone; E Tan; Mehmet Demirci; P Walsh; S Nakano; I Akiguchi
The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
Annals of neurology 2000;47(2):162-70.
1999: PA Quiram; Kinji Ohno; Margherita Milone; M C Patterson; N J Pruitt; Joan M Brengman; Steven M Sine; Andrew G Engel
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.
The Journal of clinical investigation 1999;104(10):1403-10.
1999: Lefkos T Middleton; Kinji Ohno; Kyproula Christodoulou; Joan M Brengman; Margherita Milone; Vassos Neocleous; P Serdaroğlu; Feza Deymeer; Coskun Ozdemir; A Mubaidin; K Horany; A Al-Shehab; Ioannis Mavromatis; I Mylonas; M Tsingis; E Zamba; M Pantzaris; K Kyriallis; Andrew G Engel
Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.
Neurology 1999;53(5):1076-82.
1999: Kinji Ohno; Joan M Brengman; K J Felice; David R Cornblath; Andrew G Engel
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?
American journal of human genetics 1999;65(3):635-44.
1999: Kinji Ohno; Banu Anlar; Andrew G Engel
Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene.
Neuromuscular disorders : NMD 1999;9(3):131-5.
1999: Hai-Long Wang; Margherita Milone; Kinji Ohno; Xin-Ming Shen; Akira Tsujino; Anna Paola Batocchi; P Tonali; Joan M Brengman; Andrew G Engel; Steven M Sine
Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.
Nature neuroscience 1999;2(3):226-33.
1998: Kinji Ohno; Joan M Brengman; Akira Tsujino; Andrew G Engel
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(16):9654-9.
1998: Kinji Ohno; Banu Anlar; Emire Ozdirim; Joan M Brengman; J L DeBleecker; Andrew G Engel
Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.
Annals of neurology 1998;44(2):234-41.
1998: T Fukudome; Kinji Ohno; Joan M Brengman; Andrew G Engel
Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor.
Neuroreport 1998;9(8):1907-11.
1998: T Fukudome; Kinji Ohno; Joan M Brengman; Andrew G Engel
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome.
Annals of the New York Academy of Sciences 1998;841():199-202.
1998: Kinji Ohno; Banu Anlar; Emire Ozdirim; Joan M Brengman; Andrew G Engel
Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes.
Annals of the New York Academy of Sciences 1998;841():189-94.
1998: Margherita Milone; Kinji Ohno; T Fukudome; Xin-Ming Shen; Joan M Brengman; R C Griggs; Andrew G Engel
Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.
Annals of the New York Academy of Sciences 1998;841():184-8.
1998: Andrew G Engel; Kinji Ohno; Margherita Milone; Steven M Sine
Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies.
Annals of the New York Academy of Sciences 1998;841():140-56.
1998: Andrew G Engel; Kinji Ohno; S M Sine
Congenital myasthenic syndromes: experiments of nature.
Journal of physiology, Paris 1998;92(2):113-7.
1998: Margherita Milone; Hai-Long Wang; Kinji Ohno; R Prince; T Fukudome; Xin-Ming Shen; Joan M Brengman; R C Griggs; Steven M Sine; Andrew G Engel
Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit.
Neuron 1998;20(3):575-88.
1997: Kinji Ohno; Andrew G Engel
[New insights into congenital myasthenic syndromes].
Nō to shinkei = Brain and nerve 1997;49(12):1102-13.
1997: Margherita Milone; Hai-Long Wang; Kinji Ohno; T Fukudome; Jerry N Pruitt; Nina Bren; Steven M Sine; Andrew G Engel
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.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1997;17(15):5651-65.
1997: Hai-Long Wang; A Auerbach; Nina Bren; Kinji Ohno; Andrew G Engel; Steven M Sine
Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation.
The Journal of general physiology 1997;109(6):757-66.
1997: Kinji Ohno; PA Quiram; Margherita Milone; Hai-Long Wang; M C Harper; Jerry N Pruitt; Joan M Brengman; L Pao; Kenneth H Fischbeck; Thomas Crawford; Steven M Sine; Andrew G Engel
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.
Human molecular genetics 1997;6(5):753-66.
1996: Andrew G Engel; Kinji Ohno; C Bouzat; Steven M Sine; R C Griggs
End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.
Annals of neurology 1996;40(5):810-7.
1996: Andrew G Engel; Kinji Ohno; Margherita Milone; Hai-Long Wang; S Nakano; C Bouzat; Jerry N Pruitt; D O Hutchinson; Joan M Brengman; Nina Bren; J P Sieb; Steven M Sine
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
Human molecular genetics 1996;5(9):1217-27.
1996: Kinji Ohno; Hai-Long Wang; Margherita Milone; Nina Bren; Joan M Brengman; S Nakano; PA Quiram; Jerry N Pruitt; Steven M Sine; Andrew G Engel
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.
Neuron 1996;17(1):157-70.
1995: Steven M Sine; Kinji Ohno; C Bouzat; A Auerbach; Margherita Milone; Jerry N Pruitt; Andrew G Engel
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
Neuron 1995;15(1):229-39.
1995: Kinji Ohno; D O Hutchinson; Margherita Milone; Joan M Brengman; C Bouzat; Steven M Sine; Andrew G Engel
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(3):758-62.