-
1
-
-
0001509765
-
Myasthenic syndromes
-
Engel A G Franzini-Armstrong C, eds. New York: McGraw-Hill
-
Engel A G. Myasthenic syndromes. In: Engel A G Franzini-Armstrong C, eds. Myology. Basic and clinical New York: McGraw-Hill, 1994:1798-1835.
-
(1994)
Myology. Basic and Clinical
, pp. 1798-1835
-
-
Engel, A.G.1
-
3
-
-
0028889207
-
Inborn diseases of neuromuscular transmission: Congenital myasthenic syndromes
-
Sieb J P. Inborn diseases of neuromuscular transmission: congenital myasthenic syndromes (in German). Nervenarzt 1995; 66: 105-110.
-
(1995)
Nervenarzt
, vol.66
, pp. 105-110
-
-
Sieb, J.P.1
-
4
-
-
0027200547
-
The investigation of congenital myasthenic syndromes
-
Engel A G. The investigation of congenital myasthenic syndromes. Ann N Y Acad Sci 1993; 681: 425-434.
-
(1993)
Ann N Y Acad Sci
, vol.681
, pp. 425-434
-
-
Engel, A.G.1
-
5
-
-
0028821376
-
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ∈ subunit
-
Ohno K, Hutchinson D O, Milone M, et al. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ∈ subunit. Proc Natl Acad Sci USA 1995; 92: 758-762.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 758-762
-
-
Ohno, K.1
Hutchinson, D.O.2
Milone, M.3
-
6
-
-
0007519462
-
Congenital myasthenic syndrome with acetylcholine receptor (AChR) deficiency and increased quantal release
-
Sieb J P, Hutchinson D O, Nakano S, Groover R V, Engel A G. Congenital myasthenic syndrome with acetylcholine receptor (AChR) deficiency and increased quantal release (abstract). Neurology 1993; 43: A180
-
(1993)
Neurology
, vol.43
-
-
Sieb, J.P.1
Hutchinson, D.O.2
Nakano, S.3
Groover R. V4
Engel, A.G.5
-
7
-
-
0013887972
-
Familial limb-girdle myasthenia
-
McQuillen M P. Familial limb-girdle myasthenia. Brain 1966; 89: 121-132.
-
(1966)
Brain
, vol.89
, pp. 121-132
-
-
McQuillen, M.P.1
-
9
-
-
0000742333
-
Familial myasthenia with "tubular aggregates" treated with prednisone
-
Johns T R, Campa J F, Adelman L S. Familial myasthenia with "tubular aggregates" treated with prednisone (abstract). Neurology 1973; 23: 426.
-
(1973)
Neurology
, vol.23
, pp. 426
-
-
Johns, T.R.1
Campa, J.F.2
Adelman, L.S.3
-
10
-
-
0018074575
-
Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features
-
Dobkin B H, Verity A. Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features. Neurology 1978; 28: 1135-1140.
-
(1978)
Neurology
, vol.28
, pp. 1135-1140
-
-
Dobkin, B.H.1
Verity, A.2
-
13
-
-
0020047892
-
A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel
-
Engel A G, Lambert E H, Mulder D M, et al. A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann Neurol 1982; 11: 553-569.
-
(1982)
Ann Neurol
, vol.11
, pp. 553-569
-
-
Engel, A.G.1
Lambert, E.H.2
Mulder, D.M.3
-
14
-
-
0019837541
-
Alterations in the number and affinity of junctional acetylcholine receptors in a myopathy with tubular aggregates. A newly recognized receptor defect
-
Morgan-Hughes J A, Lecky B R F, Landon D N, Murray N M F. Alterations in the number and affinity of junctional acetylcholine receptors in a myopathy with tubular aggregates. A newly recognized receptor defect. Brain 1981; 104: 279-295.
-
(1981)
Brain
, vol.104
, pp. 279-295
-
-
Morgan-Hughes, J.A.1
Lecky, B.R.F.2
Landon, D.N.3
Murray, N.M.F.4
-
16
-
-
0023805851
-
Histochemical features of tubular aggregates in diseased human skeletal muscle fibres
-
Meijer A E F H. Histochemical features of tubular aggregates in diseased human skeletal muscle fibres. J Neurol Sci 1988; 86: 73-82.
-
(1988)
J Neurol Sci
, vol.86
, pp. 73-82
-
-
Meijer, A.E.F.H.1
-
17
-
-
0022312519
-
Tubular aggregates: Sarcoplasmic reticulum origin, calcium storage ability, and functional implications
-
Salviati G, Pierobon-Bormioli S, Betto R, et al. Tubular aggregates: sarcoplasmic reticulum origin, calcium storage ability, and functional implications. Muscle Nerve 1985; 8: 299-306.
-
(1985)
Muscle Nerve
, vol.8
, pp. 299-306
-
-
Salviati, G.1
Pierobon-Bormioli, S.2
Betto, R.3
-
18
-
-
0025044119
-
Newly recognized congenital myasthenic syndromes: I. Congenital paucity of synaptic vesicles and reduced quantal release II. High-conductance fast-channel syndrome III. Abnormal acetylcholine receptor (AChR) interaction with acetylcholine IV. AChR deficiency and short channel-open time
-
Engel A G, Walls T J, Nagel A, Uchitel O. Newly recognized congenital myasthenic syndromes: I. congenital paucity of synaptic vesicles and reduced quantal release II. high-conductance fast-channel syndrome III. abnormal acetylcholine receptor (AChR) interaction with acetylcholine IV. AChR deficiency and short channel-open time. Prog Brain Res 1990; 84: 125-137.
-
(1990)
Prog Brain Res
, vol.84
, pp. 125-137
-
-
Engel, A.G.1
Walls, T.J.2
Nagel, A.3
Uchitel, O.4
|