-
1
-
-
0005102975
-
Congenital myasthenic syndrome with a single nucleotide deletion at the intron/exon boundary in exon 12 of the gene encoding the acetylcholine receptor ε subunit
-
[1] Croxen R., Beeson D., Vincent A., et al., Congenital myasthenic syndrome with a single nucleotide deletion at the intron/exon boundary in exon 12 of the gene encoding the acetylcholine receptor ε subunit, (abstract), Ann. Neurol. 40 (1996)513.
-
(1996)
Ann. Neurol.
, vol.40
, pp. 513
-
-
Croxen, R.1
Beeson, D.2
Vincent, A.3
-
2
-
-
0030987817
-
Mutations in different functional domains of the human muscle acetylcholine receptor α subunit in patients with the slow-channel congenital myasthenic syndrome
-
[2] Croxen R., Newland C., Beeson D., Oosterhuis H., Chauplanaz G., Vincent A., Newsom-Davis J., Mutations in different functional domains of the human muscle acetylcholine receptor α subunit in patients with the slow-channel congenital myasthenic syndrome, Hum. Mol. Genet. 6 (1997) 767-773.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 767-773
-
-
Croxen, R.1
Newland, C.2
Beeson, D.3
Oosterhuis, H.4
Chauplanaz, G.5
Vincent, A.6
Newsom-Davis, J.7
-
3
-
-
0001509765
-
Myasthenic syndromes
-
Engel A.G., Franzini-Armstrong C., (Eds.), 2 edn., McGraw-Hill, New York
-
[3] Engel A.G., Myasthenic syndromes, in: Engel A.G., Franzini-Armstrong C., (Eds.), 2 edn., Myology: Basic and Clinical, McGraw-Hill, New York, 1994, pp. 1798-1835.
-
(1994)
Myology: Basic and Clinical
, pp. 1798-1835
-
-
Engel, A.G.1
-
4
-
-
0029807971
-
End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit
-
[4] Engel A.G., Ohno K., Bouzat C., Sine S.M., Griggs R.G., End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit, Ann. Neurol. 40 (1996) 810-817.
-
(1996)
Ann. Neurol.
, vol.40
, pp. 810-817
-
-
Engel, A.G.1
Ohno, K.2
Bouzat, C.3
Sine, S.M.4
Griggs, R.G.5
-
5
-
-
10144229353
-
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
-
[5] Engel A.G., Ohno K., Milone M., Wang H.-L., Nakano S., Bouzat C., Pruitt J.N., Hutchinson D.O., Brengman J.M., Bren N., Sieb J.P., Sine S.M., New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome, Hum. Mol. Genet. 5 (1996) 1217-1227.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1217-1227
-
-
Engel, A.G.1
Ohno, K.2
Milone, M.3
Wang, H.-L.4
Nakano, S.5
Bouzat, C.6
Pruitt, J.N.7
Hutchinson, D.O.8
Brengman, J.M.9
Bren, N.10
Sieb, J.P.11
Sine, S.M.12
-
6
-
-
0032103142
-
Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor
-
[6] Fukudome T., Ohno K., Brengman J.M., Engel A.G., Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor, NeuroReport 9 (1998) 1907-1911.
-
(1998)
NeuroReport
, vol.9
, pp. 1907-1911
-
-
Fukudome, T.1
Ohno, K.2
Brengman, J.M.3
Engel, A.G.4
-
7
-
-
0029900298
-
A beta-subunit mutation in the acetylcholine receptor gate causes severe slow-channel syndrome
-
[7] Gomez C.M., Maselli R., Gammack J., Lasalde J., Tamamizu S., Cornblath D.R., Lehar M., McNamee M., Kuncl R., A beta-subunit mutation in the acetylcholine receptor gate causes severe slow-channel syndrome, Ann. Neurol. 39 (1996) 712-723.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 712-723
-
-
Gomez, C.M.1
Maselli, R.2
Gammack, J.3
Lasalde, J.4
Tamamizu, S.5
Cornblath, D.R.6
Lehar, M.7
McNamee, M.8
Kuncl, R.9
-
8
-
-
0031749640
-
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome
-
[8] Harper C.M., Engel A.G., Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome, Ann. Neurol. 43 (1998) 480-484.
-
(1998)
Ann. Neurol.
, vol.43
, pp. 480-484
-
-
Harper, C.M.1
Engel, A.G.2
-
9
-
-
0005269088
-
Congenital myasthenic syndromes linked to chromosome 17p are caused by defects in acetylcholine receptor ε subunit gene
-
[9] Middleton L., Ohno K., Christodoulou K., et al., Congenital myasthenic syndromes linked to chromosome 17p are caused by defects in acetylcholine receptor ε subunit gene (abstract), Neurology 50 (1998) A432.
-
(1998)
Neurology
, vol.50
-
-
Middleton, L.1
Ohno, K.2
Christodoulou, K.3
-
10
-
-
0028019282
-
Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate
-
[10] Milone M., Hutchinson D.O., Engel A.G., Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate, Muscle Nerve 17 (1994) 1364-1369.
-
(1994)
Muscle Nerve
, vol.17
, pp. 1364-1369
-
-
Milone, M.1
Hutchinson, D.O.2
Engel, A.G.3
-
11
-
-
0002782382
-
Low-affinity fast-channel congenital myasthenic syndrome caused by new missense mutations in the acetylcholine receptor α subunit
-
[11] Milone M., Ohno K., Brengman J.M. et al., Low-affinity fast-channel congenital myasthenic syndrome caused by new missense mutations in the acetylcholine receptor α subunit (abstract), Neurology 50 (1998) A432-A433.
-
(1998)
Neurology
, vol.50
-
-
Milone, M.1
Ohno, K.2
Brengman, J.M.3
-
12
-
-
0001254949
-
Congenital myasthenic syndrome due to frameshifting acetylcholine receptor epsilon subunit mutation
-
[12] Milone M., Ohno K., Pruitt J.N., Brengman J.M., Sine S.M., Engel A.G., Congenital myasthenic syndrome due to frameshifting acetylcholine receptor epsilon subunit mutation, Soc. Neurosci. Abstr. 22 (1996) 1942-1942.
-
(1996)
Soc. Neurosci. Abstr.
, vol.22
, pp. 1942-1942
-
-
Milone, M.1
Ohno, K.2
Pruitt, J.N.3
Brengman, J.M.4
Sine, S.M.5
Engel, A.G.6
-
13
-
-
0030757151
-
Slow-channel syndrome caused by enhanced activation, desensitization, and agonist binding affinity due to mutation in the M2 domain of the acetylcholine receptor alpha subunit
-
[13] Milone M., Wang H.-L., Ohno K., Fukudome K., Pruitt J.N., Bren N., Sine S.M., Engel A.G., Slow-channel syndrome caused by enhanced activation, desensitization, and agonist binding affinity due to mutation in the M2 domain of the acetylcholine receptor alpha subunit, J. Neurosci. 17 (1997) 5651-5665.
-
(1997)
J. Neurosci.
, vol.17
, pp. 5651-5665
-
-
Milone, M.1
Wang, H.-L.2
Ohno, K.3
Fukudome, K.4
Pruitt, J.N.5
Bren, N.6
Sine, S.M.7
Engel, A.G.8
-
14
-
-
0032031997
-
Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor ε subunit
-
[14] Milone M., Wang H.-L., Ohno K., Prince R.J., Shen X.-M., Brengman J.M., Griggs R.C., Engel A.G., Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor ε subunit, Neuron 20 (1998) 575-588.
-
(1998)
Neuron
, vol.20
, pp. 575-588
-
-
Milone, M.1
Wang, H.-L.2
Ohno, K.3
Prince, R.J.4
Shen, X.-M.5
Brengman, J.M.6
Griggs, R.C.7
Engel, A.G.8
-
15
-
-
0031829201
-
Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor
-
in press
-
[15] Ohno K., Anlar B., Özdirim E., Brengman J.M., De Bleecker J., Engel A.G., Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor, Ann. Neurol. (1998), in press.
-
(1998)
Ann. Neurol.
-
-
Ohno, K.1
Anlar, B.2
Özdirim, E.3
Brengman, J.M.4
De Bleecker, J.5
Engel, A.G.6
-
16
-
-
0001669899
-
A congenital myasthenic syndrome with severe acetylcholine receptor deficiency caused by heteroalielic frameshifting mutations in the epsilon subunit
-
[16] Ohno K., Engel A.G., Milone M., et al., A congenital myasthenic syndrome with severe acetylcholine receptor deficiency caused by heteroalielic frameshifting mutations in the epsilon subunit (abstract), Neurology 45 (1995) (suppl. 4) A283.
-
(1995)
Neurology
, vol.45
, Issue.SUPPL. 4
-
-
Ohno, K.1
Engel, A.G.2
Milone, M.3
-
17
-
-
0000920817
-
Mutational analysis in a congenital myasthenic syndrome reveals a novel acetylcholine receptor epsilon subunit mutation
-
[17] Ohno K., Fukudome T., Nakano S., Milone M., Feasby T.E., Tyce G.M., Engel A.G., Mutational analysis in a congenital myasthenic syndrome reveals a novel acetylcholine receptor epsilon subunit mutation. Soc. Neurosci. Abstr. 22 (1996) 234-234.
-
(1996)
Soc. Neurosci. Abstr.
, vol.22
, pp. 234-234
-
-
Ohno, K.1
Fukudome, T.2
Nakano, S.3
Milone, M.4
Feasby, T.E.5
Tyce, G.M.6
Engel, A.G.7
-
18
-
-
0028821376
-
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit
-
[18] Ohno K., Hutchinson D.O., Milone M., Brengman J.M., Bouzat C., Sine S.M., Engel A.G., Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit, Proc. Natl. Acad. Sci. USA. 92 (1995) 758-762.
-
(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
-
19
-
-
0011967698
-
Molecular genetic basis of a slow channel syndrome
-
[19] Ohno K., Hutchinson D.O., Milone M., et al., Molecular genetic basis of a slow channel syndrome, (abstract), Muscle Nerve 18 (1995) 463.
-
(1995)
Muscle Nerve
, vol.18
, pp. 463
-
-
Ohno, K.1
Hutchinson, D.O.2
Milone, M.3
-
20
-
-
0002782382
-
Slow-channel congenital myasthenic syndrome caused by a novel mutation in the acetylcholine receptor ε subunit
-
[20] Ohno K., Milone M., Brengman J.M., et al., Slow-channel congenital myasthenic syndrome caused by a novel mutation in the acetylcholine receptor ε subunit (abstract), Neurology 50 (1998) A432.
-
(1998)
Neurology
, vol.50
-
-
Ohno, K.1
Milone, M.2
Brengman, J.M.3
-
21
-
-
8244225989
-
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: Identification and functional characterization of six new mutations
-
[21] Ohno K., Quiram P., Milone M., Wang H.-L., Harper C.M., Pruitt J.N., Brengman J.M., Pao L., Fischbeck K.H., Crawford T.O., Sine S.M., Engel A.G., Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: identification and functional characterization of six new mutations. Hum. Mol. Genet. 6 (1997) 753-766.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 753-766
-
-
Ohno, K.1
Quiram, P.2
Milone, M.3
Wang, H.-L.4
Harper, C.M.5
Pruitt, J.N.6
Brengman, J.M.7
Pao, L.8
Fischbeck, K.H.9
Crawford, T.O.10
Sine, S.M.11
Engel, A.G.12
-
22
-
-
15844429136
-
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit
-
[22] Ohno K., Wang H.-L., Milone M., Bren N., Brengman J.M., Nakano S., Quiram P., Pruitt J.N., Sine S.M., Engel A.G., Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit, Neuron 17 (1996) 157-170.
-
(1996)
Neuron
, vol.17
, pp. 157-170
-
-
Ohno, K.1
Wang, H.-L.2
Milone, M.3
Bren, N.4
Brengman, J.M.5
Nakano, S.6
Quiram, P.7
Pruitt, J.N.8
Sine, S.M.9
Engel, A.G.10
-
23
-
-
0029087136
-
Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
-
[23] Sine S.M., Ohno K., Bouzat C., Auerbach A., Milone M., Pruitt J.N., Engel A.G., Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 15 (1995) 229-239.
-
(1995)
Neuron
, vol.15
, pp. 229-239
-
-
Sine, S.M.1
Ohno, K.2
Bouzat, C.3
Auerbach, A.4
Milone, M.5
Pruitt, J.N.6
Engel, A.G.7
-
24
-
-
0027376417
-
Congenital myasthenic syndromes. II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor
-
[24] Uchitel O., Engel A.G., Walls T.J., Nagel A., Alassi Z.M., Bril V., Congenital myasthenic syndromes. II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor, Muscle Nerve 16 (1993) 1293-1301.
-
(1993)
Muscle Nerve
, vol.16
, pp. 1293-1301
-
-
Uchitel, O.1
Engel, A.G.2
Walls, T.J.3
Nagel, A.4
Alassi, Z.M.5
Bril, V.6
-
25
-
-
0030906795
-
Mutation in the M1 domain of the acetylcholine receptor alphα subunit decreases the rate of agonist dissociation
-
[25] Wang H.-L., Auerbach A., Bren N., Ohno K., Engel A.G., Sine S.M., Mutation in the M1 domain of the acetylcholine receptor alphα subunit decreases the rate of agonist dissociation, J. Gen. Physiol. 109 (1997) 757-766.
-
(1997)
J. Gen. Physiol.
, vol.109
, pp. 757-766
-
-
Wang, H.-L.1
Auerbach, A.2
Bren, N.3
Ohno, K.4
Engel, A.G.5
Sine, S.M.6
|