SCOPUS 정보 검색 플랫폼

Proceedings of the National Academy of Sciences of the United States of America

Volumn 98, Issue 4, 2001, Pages 2017-2022

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

(10) Ohno, Kinji a Tsujino, Akira a Brengman, Joan M a Harper, C Michel a Bajzer, Zeljko b Udd, Bjarne c Beyring, Roger c Robb, Stephanie d Kirkham, Fenella J e Engel, Andrew G a

a Neuromuscular Research Laboratory (United States)

b MAYO GRADUATE SCHOOL (United States)

c VAASA CENTRAL HOSPITAL (Finland)

d GUY S HOSPITAL (United Kingdom)

e UNIVERSITY COLLEGE LONDON (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE ACETYLTRANSFERASE; GENE PRODUCT;

APNEA; ARTICLE; CATALYSIS; CELL STRAIN COS1; CLINICAL ARTICLE; DISEASE ASSOCIATION; EATON LAMBERT SYNDROME; ELECTROMYOGRAPHY; ENDPLATE POTENTIAL; ENZYME SYNTHESIS; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; NEUROMUSCULAR SYNAPSE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; AMINO ACID SEQUENCE; ANIMALS; APNEA; BUNGAROTOXINS; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; CHOLINE O-ACETYLTRANSFERASE; COS CELLS; ESCHERICHIA COLI; FEMALE; HUMANS; KINETICS; MALE; MICE; MOLECULAR SEQUENCE DATA; MOTOR ENDPLATE; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; RATS; SEQUENCE HOMOLOGY, AMINO ACID; SPINAL CORD; SWINE;

CAENORHABDITIS ELEGANS;

EID: 0035852681 PISSN: 00278424 EISSN: None Source Type: Journal
DOI: 10.1073/pnas.98.4.2017 Document Type: Article

Times cited : (242)

References (41)

1
- 0005071524
- Myasthenia Gravis and Myasthenic Disorders, ed. Engel, A.G. (Oxford Univ. Press. New York)
- (1999) , pp. 251-297
- Engel, A.G.¹ Ohno, K.² Sine, S.M.³

2
- 0000053006
- (1960) Pediatrics , vol.26 , pp. 101-108
- Greer, M.¹ Schotland, M.²

3
- 0016776047
- (1975) J. Pediatr. (Berlin) , vol.87 , pp. 428-429
- Conomy, J.P.¹ Levisohn, M.² Fanaroff, A.³

4
- 0017853723
- (1978) Arch. Neurol. (Chicago) , vol.35 , pp. 97-103
- Fenichel, G.M.¹

5
- 0018906837
- (1980) Arch. Neurol. (Chicago) , vol.37 , pp. 117-119
- Robertson, W.C.¹ Chun, R.W.M.² Kornguth, S.E.³

6
- 0018856512
- (1980) Dev. Med. Child. Neurol. , vol.22 , pp. 371-374
- Smit, L.M.¹ Barth, P.G.²

7
- 0021959696
- (1985) South. Med. J. , vol.78 , pp. 201-202
- Baptist, E.C.¹ Landes, R.V.² Sturman, J.K.³

8
- 0021959058
- (1985) Arch. Neurol. (Chicago) , vol.42 , pp. 143-144
- Gíeron, M.A.¹ Korthals, J.K.²

9
- 0023139468
- (1987) Neurology , vol.37 , pp. 206-214
- Mora, M.¹ Lambert, E.H.² Engel, A.G.³

10
- 0028304120
- (1994) Childs Nerv. Syst. , vol.10 , pp. 347-349
- Zammarchi, E.¹ Donati, M.A.² Masi, S.³ Sarti, A.⁴ Castelli, S.⁵

11
- 0032783055
- (1999) Neuromuscul. Disord. , vol.9 , pp. 129-130
- Deymeer, F.¹ Serdaroglu, P.² Özdemir, C.³

12
- 0023078761
- (1987) Electroencephalogr. Clin. Neurophysiol. Suppl. , vol.39 , pp. 91-102
- Engel, A.G.¹ Lambert, E.H.²

13
- 0027501444
- (1993) Muscle Nerve , vol.16 , pp. 1284-1292
- Engel, A.G.¹ Nagel, A.² Walls, T.J.³ Harper, C.M.⁴ Waisburg, H.A.⁵

14
- 0031300727
- (1997) J. Mol. Neurosci. , vol.9 , pp. 223-236
- Hahm, S.H.¹ Chen, L.² Patel, C.³ Erickson, J.⁴ Bonner, T.I.⁵ Weihe, E.⁶ Schafer, M.K.⁷ Eiden, L.E.⁸

15
- 0028917015
- (1995) J. Neurosci. Res. , vol.40 , pp. 427-438
- Chireux, M.A.¹ Le Van Thai, A.² Weber, M.J.³

16
- 0026553301
- (1992) Genomics , vol.12 , pp. 412-416
- Touissaint, J.L.¹ Geoffroy, V.² Schmitt, M.³ Werner, A.⁴ Garnier, J.M.⁵ Simoni, P.⁶ Kempf, J.⁷

17
- 0027049178
- (1992) Brain Res. Mol. Brain Res. , vol.16 , pp. 287-294
- Oda, Y.¹ Nakanishi, J.² Deguchi, T.³

18
- 0032006074
- (1998) Curr. Opin. Cell Biol. , vol.10 , pp. 87-92
- Nixon, R.A.¹

19
- 0033230363
- (1999) J. Cell Biol. , vol.147 , pp. 507-517
- Ray, K.¹ Perez, S.E.² Yang, Z.³ Xu, J.⁴ Ritchings, B.W.⁵ Steller, H.⁶ Goldstein, L.S.B.⁷

20
- 0028821376
- (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 758-762
- Ohno, K.¹ Hutchinson, D.O.² Milone, M.³ Brengman, J.M.⁴ Bouzat, C.⁵ Sine, S.M.⁶ Engel, A.G.⁷

21
- 0023028241
- (1986) Mol. Cell. Biol. , vol.6 , pp. 3173-3179
- Selden, R.F.¹ Burke-Howie, K.² Rowe, M.E.³ Goodman, H.M.⁴ Moore, D.D.⁵

22
- 0016468979
- (1975) J. Neurochem. , vol.24 , pp. 407-409
- Fonnum, F.¹

23
- 0017647567
- (1977) J. Biol. Chem. , vol.252 , pp. 4796-4802
- Hersh, L.B.¹ Peer, M.²

24
- 0034004554
- (2000) Nat. Neurosci. , vol.3 , pp. 120-125
- Okuda, T.¹ Haga, T.² Kanai, Y.³ Endou, H.⁴ Ishihara, T.⁵ Katsura, I.⁶

25
- 0034610075
- (2000) Biochem. Biophys. Res. Commun. , vol.276 , pp. 862-867
- Apparsundaram, S.¹ Ferguson, S.M.² George A.L., Jr.³ Blakely, R.D.⁴

26
- 0028048214
- (1994) J. Biol. Chem. , vol.269 , pp. 21929-21932
- Erickson, J.D.¹ Varoqui, H.² Eiden, L.E.³ Schafer, M.K.⁴ Modi, W.⁵ Diebler, M.⁶ Weihe, E.⁷ Rand, J.⁸ Bonner, T.I.⁹ Usdin, T.B.¹⁰

27
- 0032104055
- (1998) Curr. Opin. Neurobiol. , vol.8 , pp. 405-412
- Reimer, R.J.¹ Fon, A.E.² Edwards, R.H.³

28
- 0026520264
- (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 4387-4391
- Hahn, M.¹ Hahn, S.L.² Stone, D.M.³ Joh, T.H.⁴

29
- 0025058235
- (1990) Brain Res. Mol. Brain Res. , vol.7 , pp. 151-159
- Ishii, K.¹ Oda, Y.² Ichikawa, T.³ Deguchi, T.⁴

30
- 0024405218
- (1990) J. Neurosci. Res. , vol.23 , pp. 266-273
- Brice, A.¹ Raynaud, B.² Ansiceau, S.³ Coppola, T.⁴ Weber, M.J.⁵ Mallet, J.⁶

31
- 0023478706
- (1987) Proc. Natl. Acad. Sci. USA , vol.84 , pp. 9280-9284
- Berrard, S.¹ Brice, A.² Lottspeich, F.³ Braun, A.⁴ Barde, Y.A.⁵ Mallet, J.⁶

32
- 0021383455
- (1984) Genetics , vol.106 , pp. 227-248
- Rand, J.B.¹ Russell, R.L.²

33
- 0021963294
- (1985) J. Neurosci. , vol.5 , pp. 903-910
- Salvaterra, P.M.¹ McCaman, R.E.²

34
- 0005953303
- (2000) Soc. Neurosci. Abstr. , vol.26 , pp. 1089
- Brandon, E.P.¹ Lin, W.² D'Amour, K.A.³ Pizzo, D.P.⁴ Thode, S.⁵ Dominguez, B.⁶ Thal, L.J.⁷ Lee, K.-F.⁸ Gage, F.H.⁹

35
- 0027156457
- (1993) J. Neurochem. , vol.61 , pp. 247-253
- Carbini, L.A.¹ Hersh, L.B.²

36
- 0028883982
- (1995) J. Biol. Chem. , vol.270 , pp. 29111-29116
- Wu, D.¹ Hersh, L.B.²

37
- 0032544596
- (1998) J. Biol. Chem. , vol.273 , pp. 24465-24469
- Cronin, C.N.¹

38
- 0033362102
- (1999) Am. J. Hum. Genet. , vol.65 , pp. 635-644
- Ohno, K.¹ Brengman, J.M.² Felice, K.J.³ Cornblath, D.R.⁴ Engel, A.G.⁵

39
- 0031745813
- (1998) J. Neurochem. , vol.70 , pp. 2227-2240
- Eiden, L.E.¹

40
- 0033516560
- (1999) J. Biol. Chem. , vol.274 , pp. 19417-19421
- Resendes, M.C.¹ Dobransky, T.² Ferguson, S.S.³ Rylett, R.J.⁴

41
- 0031046230
- (1997) Brain Res. Mol. Brain Res. , vol.44 , pp. 323-333
- Misawa, H.¹ Matsuura, J.² Oda, Y.³ Takahashi, R.⁴ Deguchi, T.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.