-
1
-
-
0020047892
-
A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel
-
ENGEL, A. G., E. H. LAMBERT, D. M. MULDER et al. 1982. A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann. Neurol. 11(6): 553-569.
-
(1982)
Ann. Neurol.
, vol.11
, Issue.6
, pp. 553-569
-
-
Engel, A.G.1
Lambert, E.H.2
Mulder, D.M.3
-
2
-
-
0023192223
-
The slow channel syndrome: Two new cases
-
OOSTERHUIS, H. J., J. NEWSOM-DAVIS, J. H. WOKKE et al. 1987. The slow channel syndrome: two new cases. Brain 110: 1061-1079.
-
(1987)
Brain
, vol.110
, pp. 1061-1079
-
-
Oosterhuis, H.J.1
Newsom-Davis, J.2
Wokke, J.H.3
-
3
-
-
0001509765
-
Myasthenic syndromes
-
McGraw-Hill. New York
-
ENGEL, A. G. 1994. Myasthenic syndromes. In Myology. Second edition. Vol. 2, p. 1798-1835. McGraw-Hill. New York.
-
(1994)
Myology. Second Edition
, vol.2
, pp. 1798-1835
-
-
Engel, A.G.1
-
4
-
-
0028821376
-
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the e subunit
-
OHNO, K., D. HUTCHINSON, M. MILONE et al. 1995. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the e subunit. Proc. Natl. Acad. Sci. U.S.A. 92: 758-762.
-
(1995)
Proc. Natl. Acad. Sci. U.S.A.
, vol.92
, pp. 758-762
-
-
Ohno, K.1
Hutchinson, D.2
Milone, M.3
-
5
-
-
0029077770
-
A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome
-
GOMEZ, C. M. & J. T. GAMMACK. 1995. A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. Neurology 45(5): 982-985.
-
(1995)
Neurology
, vol.45
, Issue.5
, pp. 982-985
-
-
Gomez, C.M.1
Gammack, J.T.2
-
6
-
-
0029900298
-
A β subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome
-
GOMEZ, C. M., R. MASELLI, J. LASALDE et al. 1996. A β subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. Ann. Neurol. 39(6): 717-723.
-
(1996)
Ann. Neurol.
, vol.39
, Issue.6
, pp. 717-723
-
-
Gomez, C.M.1
Maselli, R.2
Lasalde, J.3
-
7
-
-
15844362560
-
Identification of neuromuscular junction acetylcholine receptor mutations in the slow-channel congenital myasthenic syndrome
-
OHNO, K., M. MILONE, H-L. WANG et al. 1996. Identification of neuromuscular junction acetylcholine receptor mutations in the slow-channel congenital myasthenic syndrome. Neurology 46: A214.
-
(1996)
Neurology
, vol.46
-
-
Ohno, K.1
Milone, M.2
Wang, H.-L.3
-
8
-
-
10144229353
-
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
-
ENGEL, A. G., K. OHNO, M. MILONE et al. 1996. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum. Mol. Genet. 5(9): 1217-1227.
-
(1996)
Hum. Mol. Genet.
, vol.5
, Issue.9
, pp. 1217-1227
-
-
Engel, A.G.1
Ohno, K.2
Milone, M.3
-
9
-
-
0030757151
-
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, M., H-L. WANG, K. OHNO et al. 1997. 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. J. Neurosci. 17(15): 5651-5665.
-
(1997)
J. Neurosci.
, vol.17
, Issue.15
, pp. 5651-5665
-
-
Milone, M.1
Wang, H.-L.2
Ohno, K.3
-
10
-
-
0030987817
-
Mutations in different functional domains of the human muscle acetylcholine receptor a subunit in patients with the slow-channel congenital myasthenic syndrome
-
(a) CROXEN, R., C. NEWLAND, D. BEESON et al. 1997. Mutations in different functional domains of the human muscle acetylcholine receptor a subunit in patients with the slow-channel congenital myasthenic syndrome. Hum. Mol. Genet. 6(5): 767-774;
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.5
, pp. 767-774
-
-
Croxen, R.1
Newland, C.2
Beeson, D.3
-
11
-
-
0029087136
-
Mutation of the acetylcholine receptor a subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
-
(b) SINE, S. M., K. OHNO, C. BOUZAT et al. 1995. Mutation of the acetylcholine receptor a subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 15: 229-239.
-
(1995)
Neuron
, vol.15
, pp. 229-239
-
-
Sine, S.M.1
Ohno, K.2
Bouzat, C.3
-
12
-
-
4243804515
-
In vitro and in vivo properties of an acetylcholine receptor (AChR) mutation in a family with the slow-channel syndrome (SCS)
-
GOMEZ, C. M., S. TAMAMIZU, J. LASALDE et al. 1996. In vitro and in vivo properties of an acetylcholine receptor (AChR) mutation in a family with the slow-channel syndrome (SCS). Neurology 46(2): A310.
-
(1996)
Neurology
, vol.46
, Issue.2
-
-
Gomez, C.M.1
Tamamizu, S.2
Lasalde, J.3
-
13
-
-
0030905263
-
Slow-channel transgenic mice: A model of postsynaptic organellar degeneration at the neuromuscular junction
-
GOMEZ, C. M., R. MASELLI, J. E. GUNDECK et al. 1997. Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction. J. Neurosci. 17(11): 4170-4179.
-
(1997)
J. Neurosci.
, vol.17
, Issue.11
, pp. 4170-4179
-
-
Gomez, C.M.1
Maselli, R.2
Gundeck, J.E.3
-
14
-
-
0030031636
-
A transgenic mouse model of the slow-channel syndrome
-
GOMEZ, C. M., B. B. BHATTACHARYYA, P. CHARNET et al. 1996. A transgenic mouse model of the slow-channel syndrome. Muscle Nerve 19: 79-87.
-
(1996)
Muscle Nerve
, vol.19
, pp. 79-87
-
-
Gomez, C.M.1
Bhattacharyya, B.B.2
Charnet, P.3
-
15
-
-
0024320433
-
Muscle creatine kinase sequence elements regulating skeletal and cardiac muscle expression in transgenic mice
-
JOHNSON, J. E., B. J. WOLD & S. D. HAUSCHKA. 1989. Muscle creatine kinase sequence elements regulating skeletal and cardiac muscle expression in transgenic mice. Mol. Cell. Biol. 9(8): 3393-3399.
-
(1989)
Mol. Cell. Biol.
, vol.9
, Issue.8
, pp. 3393-3399
-
-
Johnson, J.E.1
Wold, B.J.2
Hauschka, S.D.3
-
17
-
-
0023850178
-
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
-
SAIKI, R. K., D. H. GELFAND, S. STOFFEL et al. 1988. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239(4839): 487-491.
-
(1988)
Science
, vol.239
, Issue.4839
, pp. 487-491
-
-
Saiki, R.K.1
Gelfand, D.H.2
Stoffel, S.3
-
18
-
-
0025149502
-
Nucleotide sequence of the epsilon-subunit of the mouse muscle nicotinic acetylcholine receptor
-
GARDNER, P. D. 1990. Nucleotide sequence of the epsilon-subunit of the mouse muscle nicotinic acetylcholine receptor. Nucleic Acids Res. 18(22): 100.
-
(1990)
Nucleic Acids Res.
, vol.18
, Issue.22
, pp. 100
-
-
Gardner, P.D.1
-
19
-
-
0020435972
-
Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells
-
GORMAN, C. M., L. F. MOFFAT & B. H. HOWARD. 1982. Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells. Mol. Cell. Biol. 2: 1044-1051.
-
(1982)
Mol. Cell. Biol.
, vol.2
, pp. 1044-1051
-
-
Gorman, C.M.1
Moffat, L.F.2
Howard, B.H.3
-
20
-
-
0016824042
-
Voltage dependence of agonist effectiveness at the frog neuromuscular junction: Resolution of a paradox
-
DIONNE, V E. & C. F. STEVENS. 1975. Voltage dependence of agonist effectiveness at the frog neuromuscular junction: resolution of a paradox. J. Physiol. 251: 245-270.
-
(1975)
J. Physiol.
, vol.251
, pp. 245-270
-
-
Dionne, V.E.1
Stevens, C.F.2
-
21
-
-
0018333038
-
Voltage clamping of unparalysed cut diaphragm for the study of transmitter release
-
GLAMINOVIC, M. I. 1979. Voltage clamping of unparalysed cut diaphragm for the study of transmitter release. J. Physiol. 290: 467-480.
-
(1979)
J. Physiol.
, vol.290
, pp. 467-480
-
-
Glaminovic, M.I.1
-
22
-
-
0030698239
-
Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of synaptic currents
-
BHATTACHARYYA, B. B., J. DAY, J. E. GUNDECK, S. LEONARD, R. WOLLMANN & C. GOMEZ. 1997. Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of synaptic currents. Synapse 27(4): 367-377.
-
(1997)
Synapse
, vol.27
, Issue.4
, pp. 367-377
-
-
Bhattacharyya, B.B.1
Day, J.2
Gundeck, J.E.3
Leonard, S.4
Wollmann, R.5
Gomez, C.6
-
24
-
-
0022313034
-
Measurement of junctional acetylcholine receptors in myasthenia gravis: Clinical correlates
-
PESTRONK, A., D. B. DRACHMAN & S. G. SELF. 1985. Measurement of junctional acetylcholine receptors in myasthenia gravis: clinical correlates. Muscle Nerve 8(3): 245-251.
-
(1985)
Muscle Nerve
, vol.8
, Issue.3
, pp. 245-251
-
-
Pestronk, A.1
Drachman, D.B.2
Self, S.G.3
-
25
-
-
0019732133
-
A study of desensitization of acetylcholine receptors using nerve-released transmitter in the frog
-
MAGLEDY, K. L. & B. S. PALLOTTA. 1981. A study of desensitization of acetylcholine receptors using nerve-released transmitter in the frog. J. Physiol. 316: 225-250.
-
(1981)
J. Physiol.
, vol.316
, pp. 225-250
-
-
Magledy, K.L.1
Pallotta, B.S.2
-
26
-
-
8244225989
-
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, K., P. A. QUIRAM, M. MILONE et al. 1997. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene-identification and functional characterization of six new mutations. Hum. Mol. Genet. 6(5): 753-766.
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.5
, pp. 753-766
-
-
Ohno, K.1
Quiram, P.A.2
Milone, M.3
-
27
-
-
0030906795
-
Mutation in the ml domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation
-
WANG, H-L., A. AUERBACH, N. BREN, K. OHNO, A. G. ENGEL & S. M. SINE. 1997. Mutation in the ml domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation. J. Gen. Physiol. 109(6): 757-766.
-
(1997)
J. Gen. Physiol.
, vol.109
, Issue.6
, pp. 757-766
-
-
Wang, H.-L.1
Auerbach, A.2
Bren, N.3
Ohno, K.4
Engel, A.G.5
Sine, S.M.6
-
28
-
-
0028128855
-
Calcium-dependent regulation of rat and chick muscle nicotinic acetylcholine receptor (nAChR) gene expression
-
WALKE, W., J. STAPLE, L. ADAMS, M. GNEGY, K. CHAHINE & D. GOLDMAN. 1994. Calcium-dependent regulation of rat and chick muscle nicotinic acetylcholine receptor (nAChR) gene expression. J. Biol. Chem. 269(30): 19447-19456.
-
(1994)
J. Biol. Chem.
, vol.269
, Issue.30
, pp. 19447-19456
-
-
Walke, W.1
Staple, J.2
Adams, L.3
Gnegy, M.4
Chahine, K.5
Goldman, D.6
-
29
-
-
0016914842
-
End-plate potentials in experimental autoimmune myasthenia gravis in rats
-
LAMBERT, E. H., J. M. LINDSTROM & V. A. LENNON. 1976. End-plate potentials in experimental autoimmune myasthenia gravis in rats. Ann. N.Y. Acad. Sci. 274: 300-318.
-
(1976)
Ann. N.Y. Acad. Sci.
, vol.274
, pp. 300-318
-
-
Lambert, E.H.1
Lindstrom, J.M.2
Lennon, V.A.3
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